Centre for Human Genetics Bangalore Course-Syllabus final version with... · 2020-01-09 ·...

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Syllabus: MSc in Human Disease Genetics 15 th July 2016 1 Centre for Human Genetics Bangalore Master’s Program in Human Disease Genetics Credit Matrix Semester Theory Course Credits (L) Tutorial Credits (T) Practicals (P) (Includes Research Credits: Term Paper and Dissertation) Total Credits 1 11 2 6 19 2 8 3 7 18 3 5 - 6 4 - 5 8 18 - 19 4 8 - 9 4 8 20 - 21 Total Credits 76 Theory courses consist of lectures to be attended, tutorials are discussion sessions and the ‘practicals’ consist of experiments performed in a laboratory also called ‘lab’ modules. Most theory courses are compulsory and are called hard core (HC) courses. The soft core (SC) courses offer you a choice from a range available each semester. In addition we offer Open Elective (OE) courses consisting of a choice of courses in subjects unrelated to the subject area of the Master’s programme.

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Page 1: Centre for Human Genetics Bangalore Course-Syllabus final version with... · 2020-01-09 · Identifying Human Disease Genes: Positional cloning illustrated using as examples, Duchenne

Syllabus: MSc in Human Disease Genetics 15th July 2016

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Centre for Human Genetics

Bangalore

Master’s Program in Human Disease Genetics

Credit Matrix

Semester Theory

Course

Credits

(L)

Tutorial

Credits

(T)

Practicals (P)

(Includes Research Credits:

Term Paper and Dissertation)

Total

Credits

1 11 2 6 19

2 8 3 7 18

3 5 - 6 4 - 5 8 18 - 19

4 8 - 9 4 8 20 - 21

Total Credits 76

Theory courses consist of lectures to be attended, tutorials are discussion sessions and the ‘practicals’ consist

of experiments performed in a laboratory also called ‘lab’ modules. Most theory courses are compulsory and

are called hard core (HC) courses. The soft core (SC) courses offer you a choice from a range available each

semester. In addition we offer Open Elective (OE) courses consisting of a choice of courses in subjects

unrelated to the subject area of the Master’s programme.

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Semester 1: August to December

Paper Code Title of Course

(Course coordinator)

HC/SC

/OE

Credits

L T P Total

HDG01 Fundamentals of Genetics

(Gurudatta Baraka)

HC 2 0 0 2

HDG02 Biochemistry

(Sudha Srinivasan)

HC 2 0 0 2

HDG03 Cell Biology and cytogenetics

(Prathibha Ranganathan and

Jayarama S K)

HC 2 0 0 2

HDG04 Human Embryology and Anatomy

(Carmen Coelho)

HC 2 0 0 2

HDG05 Statistical Methods*

(Carmen Coelho)

SC 2 1 0 3

HDG06 History of Genetics* SC 2 1 0 3

HDG07 Scientific writing and presentation (Carmen Coelho)

HC 1 1 0 2

HDGP1 Lab Module I – Genetics

(Gurudatta Baraka)

HC 0 0 3 3

HDGP2 Lab Module II – Cytogenetics

(Jayarama S K)

HC 0 0 3 3

Total Credits 11 2 6 19

Hours /

week

11 4 12 27

Assignments this semester 5

* One soft-core course (for 3 credits) to be taken this semester.

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Semester 2: January to May

Paper Code Title of Course

(Course coordinator)

HC/SC/

OE

Credits

L T P Total

HDG08 Molecular Biology

(Nishtha Pandey)

HC 2 1 0 3

HDG09 Biotechniques

(Prathibha Ranganathan)

HC 2 0 0 2

HDG10 Principles of Development*

(Carmen Coelho)

SC 2 1 0 3

HDG11 Bioinformatics*

(Kshitish Acharya)

SC 2 1 0 3

HDG12 Therapeutics: Pharmacogenomics

and vaccines*

SC 2 1 0 3

HDGP3 Lab Module III - Biochemistry &

Molecular Biology (Prameela

Kantheti)

HC 0 0 4 4

HDGP4 Lab Module IV – Cell Biology

(Prathibha Ranganathan)

HC 0 0 3 3

Total Credits 8 3 7 18

Hours / week 8 6 14 28

Assignments this semester 4

* Two soft-core courses (amounting to 6 credits) to be taken this semester.

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Semester 3: August to December

Paper Code Title of Course

(Course coordinator)

HC/S

C/OE

Credits

L T P Total

HDG13 Human Molecular Genetics

(Nishtha Pandey)

HC 2 1 0 3

HDG14 Biochemical Genetics

(Sudha Srinivasan)

HC 1 1 0 2

HDG15 Advanced Bioinformatics* SC 1 1 0 2

HDG16 Population Genetics and Evolution*

(Vidyanand Nanjundiah)

SC 1 1 0 2

HDG17 Cancer Biology*

(Prathibha Ranganathan)

SC 1 0 0 1

HDGS1 Model Organisms (Seminar series)*

(Carmen Coelho)

SC 0 1 0 1

HDGS2 Developmental disorders (Seminar

series)

HC 1 0 0 1

HDGT1 Term Paper (Carmen Coelho) HC 0 0 1 1

HDGP5 Lab Module V - Molecular Diagnostics

(Swathi Shetty)

HC 0 0 4 4

HDGP6 Dissertation HC 0 1 3 4

Total Credits 5-

6

4 - 5 8 18 - 19

Hours / week 5-

6

8 - 10 10 24 - 25 +

dissertatio

n

Assignments this semester 5 or 6

* Soft-core courses amounting to 3 to 4 credits to be taken this semester.

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Semester 4: January to May

Paper Code Title of Course

(Course coordinator)

HC/S

C/OE

Credits

L T P Total

HDG18 Human Genome Organization*

(Gurudatta Baraka)

SC 1 0 0 1

HDG19 Genetic Counselling and

Epidemiology

(Meenakshi Bhat)

HC 2 1 0 3

HDG20 Ethics in Clinical and Biomedical

Research*

(Meenakshi Bhat)

SC 2 1 0 3

HDG21 Intellectual Property and Patents* SC 2 1 0 3

HDG22 Humanities courses OE 4 4

HDGP7 Dissertation HC 0 2 8 10

Total Credits 8 – 9 4 8 20 – 21

Hours / week 8 - 9 8 0 16 – 17 +

dissertation

Assignments this semester 2 or 3 + OE

* Soft-core courses (3 or 4 credits) to be taken this semester to complete the programme credit

requirement of 76 credits.

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Syllabus SEMESTER 1

HDG01. FUNDAMENTALS OF GENETICS (Lecture CREDITS-2)

Unit I 2 Hrs

Heredity and Variation: Definition, history, terminology and significance of study of

genetics for mankind.

Unit II 3 Hrs

Mendelian Inheritance in Humans: Dominance and recessivity, the example of ABO

blood groups in humans, qualitative and quantitative traits, patterns of inheritance;

the contributions of Gregor Johann Mendel: his experimental approach, hypotheses,

the publication and reception of his work.

Unit III 3 Hrs

Chromosomal Basis of Inheritance: Historical experiments, the relationship

between Mendel’s laws and chromosome transmission in mitosis and meiosis,

transmission of genes located on human sex chromosomes.

Unit IV 4 Hrs

Gene Interaction, Inheritance of Complex Traits, Extra-chromosomal

Inheritance: Modified dihybrid ratios; concept of penetrance (illustrated by

Huntington’s disease), expressivity and pleiotropy; maternal inheritance in humans

(mitochondrial inheritance, Leigh syndrome); mosaicism and chimerism.

Unit V 4 Hrs

Mapping of Genetic Loci in Humans: Linkage, crossover and map distance, 2 test of linkage,

mapping function, genetic polymorphisms, chromosomal mapping.

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Unit VI 4 Hrs

Human Pedigree analysis: Test-cross, back-cross in other systems; pedigree analysis

in humans.

Unit VII 4 Hrs

Identification of Genetic Material and the Concept of a Gene: Classical

experiments: those by Griffith; Avery, MacLeod and McCarty; Hershey and Chase;

Beadle and Tatum; Benzer’s deletion mapping and complementation; McClintock’s

jumping genes.

Unit VIII 4 Hrs

Identifying Human Disease Genes: Positional cloning illustrated using as examples,

Duchenne muscular dystrophy, cystic fibrosis and Huntington’s disease.

Unit IX 4 Hrs

Introduction to Microbial Genetics: Bacterial transformation and conjugation,

bacteriophage genetics and transduction, bacterial and viral gene maps.

HDG02. BIOCHEMISTRY (Lecture CREDITS-2)

Unit I 1 Hr

Water, pH and buffers: Chemical properties of water, acids, bases, the pH scale,

buffers.

Unit I I 8 Hrs

Molecules of life: Structure and functions of amino acids, peptides, proteins,

carbohydrates, nucleic acids, lipids, vitamins and minerals.

Unit III 2 Hrs

Enzymes: Properties, classification and kinetics.

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Unit IV 1 Hr

Bioenergetics: Generation and utilization of ATP etc. in cells.

Unit V 6 Hrs

Metabolism of biomolecules: Synthesis and degradation of carbohydrates, lipids,

nucleic acids and amino acids; urea cycle.

Unit VI 3 Hrs

Liver in metabolism: Functions of liver; intermediary metabolism; metabolism of

xenobiotics, including drugs.

Unit VII 1 Hr

Cancer metabolism: Warburg effect.

Unit VIII 5 Hrs

Blood: Haematopoiesis; physical and chemical properties of blood; coagulation

cascade; chemistry of haemoglobin and related molecules; structure of

immunoglobulins; biochemical basis of inherited haematological disorders such as

haemoglobinopathies and coagulation disorders.

Unit IX 5 Hrs

Hormones: The overview of the endocrine system (chemical nature of hormones,

biosynthesis and degradation of hormones, mechanism of action of hormones,

regulation of biosynthesis and secretion hormones); classical endocrine glands and

the hormones secreted by them; functions of various hormones.

HDG03 CELL BIOLOGY AND CYTOGENETICS (Lecture CREDITs-2)

PART 1 – CELL BIOLOGY

Unit I 4 Hrs

Cell Theory and Introduction to Cell Biology: History and breakthroughs in cell

biology; properties and behaviour of cells; structure of biological membranes, lipids

and lipid modification, membrane proteins; cell organelles and functions.

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Unit II 3 Hrs

Cell Division: Mitosis and meiosis, cell cycle, cell cycle controls, phases of cell cycle.

Unit III 2 Hrs

Nuclear Architecture and Organization: Nuclear membrane, nuclear transport,

nuclear organizer region, kinetochore and centrosome.

Unit IV 2 Hrs

Protein and Small Molecule Trafficking: Receptor-mediated endocytosis; intra-

cellular transport, lysosomes, organelle biogenesis; extra-cellular transport:

biogenesis of membrane proteins, protein modification, glycosylation; pumps,

channels and transporters.

Unit V 3 Hrs

Cell Adhesion and Tissue Formation: Organization of cells into tissues and

specialized cell types; extra cellular matrix, cell motility and cytoskeleton; stem cells

and cancer.

Unit VI 1 Hr

Principles of Cell Signalling: Receptors as a basis of signal transduction.

Unit VII 1 Hr

Cell Proliferation, Senescence and Programmed Cell Death

PART 2 – CYTOGENETICS

Unit I 1 Hr

Introduction to Cytogenetics and Clinical Cytogenetics

Unit II 2 Hrs

Introduction to Cytogenetic Techniques: Conventional banding patterns of

chromosomes; specialized banding techniques – C banding, silver staining; nucleolus

organizer region (NOR), sister chromatid exchange (SCE), etc.

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Unit III 2 Hrs

Application of Cytogenetics in Medical Genetics: Chromosome abnormalities and

human genetic diseases: structural and numerical abnormalities; Chromosome

Breakage Studies and their Applications

Unit IV 1 Hr

International System for Human Cytogenetic Nomenclature (ISCN) and Quality

Assurance

Unit V 2 Hrs

Introduction to Cancer Cytogenetics: Application of cytogenetics in cancer

diagnosis, analysis and interpretation of results, quality assurance.

Unit VII 1 Hr

Introduction to Molecular Cytogenetics

Unit VIII 1 Hr

Clinical Applications of Fluorescence in situ Hybridization (FISH)

Unit IX 1 Hr

Application of FISH in Prenatal Diagnosis

Unit X 2 Hrs

Application of FISH in Cancer Diagnosis

Unit XI 2 Hrs

Advanced Molecular Cytogenetic Techniques: Primer in situ labeling (PRINS),

comparative genome hybridization (CGH), spectral karyotyping (SKY), multicolor FISH

(mFISH), multicolor banding (mBAND), Fluorescent in situ hybridization on stretched

DNA known as Fiber FISH, etc.: principles, procedures and applications.

Unit XII 1 Hr

Quality Assurance: International System for Human Cytogenetic Nomenclature

(ISCN), FISH nomenclature, Analysis and Interpretation of Results

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HDG04 HUMAN EMBRYOLOGY and ANATOMY (Lecture CREDITS-2)

PART 1 - HUMAN ANATOMY and PHYSIOLOGY

Unit I 1Hr

Tissue Organization: Overview of tissue organization and organ systems in humans

Unit II 3Hrs

Epithelial Tissue: Structure of epithelia and tissue specific variations.

Muscular Tissue: Structure and classification of muscles, structure of the neuro-

muscular junction.

Connective Tissue: Cartilage, bone, joints; classification and growth of bones.

Integumentary system: Skin and Hair.

Secretory organs: Various kinds of exocrine and endocrine secretory organs.

Unit III 2Hrs

Digestive System: Anatomy and physiology.

Unit IV 2Hrs

Nervous System: Anatomy of the central nervous system and the peripheral nervous

system; an overview of the autonomic nervous system.

Unit V 2Hrs

Vascular and Respiratory System: arterial and venous systems; gross anatomy of

the heart and major blood vessels; blood cells and the physiology of blood; anatomy

and physiology of the respiratory tract.

Unit VI 2Hrs

Excretory System: Anatomy and physiology.

Unit VII 2Hrs

Reproductive System: Anatomy and physiology.

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Unit VIII 2Hrs

Endocrine System: Anatomy and physiology.

PART 2 - HUMAN EMBRYOLOGY

Unit I 2Hrs

Gametogenesis, Fertilization and Assisted Reproductive technologies.

Unit II 3Hrs

Early Embryogenesis: cleavage, the germinal stage, gastrulation, formation of the

germ layers, the embryonic period, body axis specification and pattern formation.

Cell fate and Cell Lineage: Commitment, specification, determination and

differentiation

Development of the Placenta.

Unit III 1 Hr

Development of the Bronchial Apparatus, Face, Nose and Palate.

Unit IV 10Hrs

Development of organ systems:

Gastrointestinal tract.

Respiratory system and Cardio-vascular system.

Urinary system.

Reproductive system.

Nervous system.

Special sense organs.

HDG05. STATISTICAL METHODS

(Lecture CREDITS-2)(TUTORIAL-1)

Unit I 4 Hrs

General Introduction and Probability: Descriptive statistics versus inferential

statistics; measures of central tendency: mean, median, mode; measures of spread:

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variance, standard deviation, coefficient of variation; studying grouped data, graphic

methods; introduction to and definition of probability; conditional probability; Bayes’

rule and screening tests, Bayesian inference; ROC curves; prevalence and incidence.

Unit II 3 Hrs

Distributions: Introduction; random variables and their properties; permutations

and combinations; The Binomial distribution: expectation (mean) and variance; The

Poisson distribution: expectation and variance, computation of Poisson probabilities.

Unit I II 3 Hrs

Estimation: Introduction; the relationship between population and sample; random-

number tables, randomized studies; estimation of the mean of a distribution;

estimation of the variance of a distribution; estimation for the Binomial distribution;

estimation for the Poisson distribution.

Unit IV 4 Hrs

Hypothesis Testing: One-sample inference, one-sample test for the mean of a normal

distribution: one-sided alternatives; one-sample test for the mean of a normal

distribution: two-sided alternatives; the relationship between hypothesis testing and

confidence intervals; Bayesian inference; one-sample χ2 test for the variance of a

normal distribution, one-sample inference for the binomial distribution, one-sample

inference for the Poisson distribution; two-sample inference; the paired t-test; interval

estimation for the comparison of means from two paired samples; two-sample t-test

for independent samples with equal and unequal variances, interval estimation for the

comparison of means from two independent samples (equal variance case); testing for

the equality of two variances.

Unit V 4 Hrs

Categorical Data: Two-sample test for binomial proportions, Fisher’s exact test; two-

sample test for binomial proportions for matched-pair data (McNemar’s test);

estimation of sample size and power for comparing two binomial proportions, R×C

contingency tables; chi-square goodness-of-fit test, the kappa statistic.

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Unit VI 2 Hrs

Nonparametric Methods: the sign test, the Wilcoxon signed-rank test, the Wilcoxon

rank-sum test.

Unit VII 4 Hrs

Regression and Correlation Methods: General concepts; fitting regression lines,

assessing the goodness of fit including the method of least squares; inferences to be

made from the parameters of regression lines; interval estimation for linear

regression; the correlation coefficient, inferences from correlation coefficients;

multiple regression, partial and multiple correlation, rank correlation, interval

estimation for rank correlation coefficients.

Unit VIII 4 Hrs

Multisample Inference: Introduction to the one-way analysis of variance (ANOVA):

fixed effects model, hypothesis testing; comparisons of specific groups, using one-way

and two-way ANOVA; The Kruskal-Wallis test; the random effects models in one-way

ANOVA, the intra-class correlation coefficient; mixed models.

Unit IX (part of tutorial) 4 Hrs

An introduction to Data Analysis using ‘R’: an introduction to handling data using

computers; general programming skills used in visualizing raw data, interpreting data

and inferring relationships between data and models; use of the R language to load

data, create basic summaries and graphics for homework or reports.

HDG07. SCIENTIFIC WRITING AND PRESENTATION

(Lecture CREDITS-1)(TUTORIAL-1)

This course will consist of lectures, written exercises and seminar presentation

workshops aimed at setting an appropriate standard in writing and presentation

skills. The lectures will include lessons in English grammar, composition and

argument mapping. The exercises will include critiquing written scientific material,

composing abstracts, titles and introductions to scientific papers along with exercises

on simple seminar presentations using everyday themes as subject material.

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HDGP1. LAB MODULE I - GENETICS (CREDITS-3)

1. Introductory Genetics; Drosophila genetics

Life cycle of Drosophila, husbandry and handling

Observation and identification of genetic markers of Drosophila

Basics of genetic crosses

2. Examination of phenotypes from monohybrid and dihybrid crosses in

Drosophila.

3. Homozygosity test, back-cross, test-cross; complementation groups; X-linked

inheritance (segregation analysis).

4. Creating a genetic map using Drosophila markers.

5. P-elements and transgenesis.

6. Mapping of P-elements to chromosomes.

7. Genetic tool kit in Drosophila to understand gene function.

8. Reverse genetics

9. RNAi using Drosophila

HDGP2. LAB MODULE II - CYTOGENETICS (CREDITS -3)

PART 1 - BASIC CYTOGENETICS

1. Use of patient tissue samples: blood/percutaneous umbilical blood sampling

(PUBS)/amniotic fluid/chorionic villus specimen (CVS)/products of conception

(POC)/Skin/bone marrow (BM)/solid tumor, etc.

2. Microscopy – Principles

3. Karyotyping – conventional and software based (Karyotype workstation)

4. Conventional cytogenetic techniques: G-banding, C-Banding, nucleolus

organizer region (NOR) staining: principles, procedures and applications.

5. Specialized techniques – Chromosome breakage and Sister-chromatid

Exchange (SCE).

6. Conventional Cytogenetics, for example, peripheral blood (PB) cytogenetics,

prenatal cytogenetics, cancer cytogenetics: case study analysis and inference.

7. Analysis and interpretation of results.

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PART 2 - MOLECULAR CYTOGENETICS

1. Specimen culture; preparation of slides and probes for fluorescence in situ

hybridization (FISH).

2. Fluorescence Microscopy – Principles

3. FISH, signal detection and analysis.

4. Methods in spectral (Color) image capture and analysis.

5. Advanced FISH techniques – spectral karyotyping (SKY) or multiplex

fluorescent in situ hybridization (mFISH).

6. Analysis and interpretation of results.

7. Quality assurance.

SEMESTER 2

HDG08. MOLECULAR BIOLOGY

(Lecture CREDITS-2) (TUTORIAL-1)

Unit I 2 Hrs

Biomolecules and Central Dogma of Molecular Biology: Molecular organization of

genes and chromosomes; the genetic-code and the central dogma connecting DNA to

RNA to Protein; structures of these macromolecules.

Unit II 4 Hrs

DNA Replication: Prokaryotic and Eukaryotic replication: mechanisms and molecular

machinery.

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Unit III 5 Hrs

DNA Recombination: Models suggesting how recombination might occur: the

Holliday model, the Messelson-Radding heteroduplex model and the double-strand-

break repair model; gene conversion.

Unit IV 5 Hrs

Transcription: Prokaryotic and Eukaryotic transcription: mechanisms and molecular

machinery.

Unit V 4 Hrs

Post-transcriptional Processing and Nuclear Transport: processing of mRNA: 5'-

capping, 3'-polyadenylation, splicing; processing of tRNA and rRNA; RNA editing.

Unit VI 4 Hrs

Translation: Prokaryotic and eukaryotic translation: mechanisms and molecular

machinery.

Unit VII 4 Hrs

Post-translational Processing of Proteins: Polypeptide cleavage, chemical

modifications and ribozymes.

Unit VIII 1 Hr

Gene Regulation: Elements of gene regulation: promoters, enhancers, silencers,

repressors; hox gene regulation during development.

Unit IX 2 Hrs

Mutations and Human Diseases: Mutagens, intrinsic mechanisms of DNA damage

and repair mechanisms; coding and non-coding mutations, types of amino-acid

substitution, substitution rates, mutation-rate differences between the sexes;

sequence repeats and their pathogenic effects; transposons and retro-transposons.

Unit X 1 Hr

Mitochondrial DNA: Genome organization and codon usage; mitochondrial mutations

and associated diseases.

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HDG09. BIOTECHNIQUES (Lecture CREDITS-2)

Unit I

Genotyping and Sequencing: DNA polymorphisms and genotyping: restriction site

polymorphisms (RSP), minisatellites, microsatellites, single nucleotide polymorphisms

(SNP), restriction fragment length polymorphisms (RFLP), DNA-fingerprinting;

sequencing: Sanger, Maxim-Gilbert, pyro, de novo; polymerase chain reaction (PCR):

principle, modifications and applications; next-generation sequencing.

Unit II

Nucleotide Hybridization, Principles and its Application: Introduction to probe

preparation, hybridization, autoradiography, fluorescent detection; types of

hybridization assays: dot, Southern, northern, colony blots, plaque lift, array

hybridization, fluorescence in situ hybridization.

Unit III

Identification of Genes and their Structure: Open reading frame (ORF) analysis: zoo

blot, exon-trapping, rapid amplification of complementary DNA ends (RACE),

transcription start site mapping, exon-intron boundary identification, database

homology search.

Unit IV

Analysis of gene expression: Detection of gene expression: reverse transcriptase-

quantitative (real time) PCR (RT-qPCR), in situ hybridization; detection of protein

expression: immunocyto/histo-chemistry, western blotting, protein tagging and

reporter gene expression analysis including Luciferase, Green fluorescent protein

(GFP), beta-D Galactosidase (LacZ), Chloramphenicol acetyltransferase (CAT)

expression.

Unit V

Gene Manipulation: Mutagenesis methods: chemical, radiation, site-directed,

insertion mutagenesis; transgenic model systems.

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Unit VI

Study of Proteins and Protein Complexes: Introduction and expression of cloned

genes in bacterial and mammalian systems: transformation, transfection, inducible

systems; protein purification, antibody production and immunoprecipitation; mapping

of protein-binding sites on DNA: gel-retardation assay, DNase-I footprinting; protein-

protein interaction study: far-western, co-immunoprecipitation and fluorescence

resonance energy transfer (FRET).

Unit VII

Cloning: Principles of cell-based cloning and cloning systems: plasmid, lambda,

cosmid, bacterial artificial chromosomes (BACs), P1 derived artificial chromosomes

(PACs) and yeast artificial chromosomes (YACs); expression systems: bacterial, phage

and eukaryotic cells.

Unit VIII

Introduction to Functional Genomics and Proteomics: Comparative genomics;

transcriptome analysis: serial analysis of gene expression (SAGE), DNA microarrays;

2-dimensional gel electrophoresis (2DGE), mass spectrometry; protein structural

studies: macro-molecular structure, nuclear magnetic resonance (NMR), protein

structure predictions; protein-protein interaction screening: phage display, yeast two-

hybrid system.

HDG10 PRINCIPLES OF DEVELOPMENT (Lecture CREDITS-2)

Unit I 1 Hr

Developmental Biology: Basic Principles and Concepts

Unit II 5 Hrs

Origins of polarity in the embryo: Differences in the origins of polarity between

different kinds of embryos, inheritance in most cases of polarity from the egg;

specification of Dorso-ventral and Anterio-posterior polarity.

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Unit III 5 Hrs

Formation of the germ layers: Early specification of germ layers and the derivatives

of each germ layer in insects and vertebrates; Spemann’s organizer; gastrulation in

invertebrates and vertebrates; morphogenetic movements and cell shape changes

accompanying the formation of each germ layer; induction between germ layers.

Unit V 2 Hrs

Basics of pattern Formation: Formation of protein gradients during development,

pattern formation within simple epithelia and within mesenchymal cells; long range

and short range pattern formation.

Unit IV 6 Hrs

Emergence of the Body Plan: Segmentation in insects and vertebrates; segment

identity specification by Hox genes; left-right asymmetry; the emergence of limbs in

insects and vertebrates.

Unit VI 2Hrs

Specification of Cell Fate: Signaling events accompanying cell fate specification in

certain well characterized contexts, for example, Notch-Delta signalling in neuroblast

specification; the role of lineage, asymmetric and symmetric cell divisions.

Unit VII 4 Hrs

Cell Migration: role of migration during development, epithelial to mesenchymal

transition, directed migration of individual cells; branching of tubular structures.

Unit VIII 5 Hrs

Determination of size: Organ intrinsic and extrinsic (systemic) regulation of organ

size; cell size versus cell number; pathways that regulate growth; the determination of

organ size and shape by morphogens; bone growth in vertebrates

Unit IX 2 Hrs

Germ cell development: Specification and migration of germ cells to form gonads in

invertebrates and vertebrates

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HDG11. BIOINFORMATICS (Lecture CREDITS-2)(TUTORIAL-1)

Unit I 1 Hr

Introduction to Bioinformatics and its Scope: An overview of activities in

bioinformatics with emphasis on the types of information in modern biology and the

need for databases and software.

Unit II 3 Hrs

Operating Systems and Basics of Computer Languages and Commands: Use of

Linux operating system, commonly used open software; introduction to shell, Perl

Unit III 4 Hrs

Databases and Data-mining: General concepts of databases; an overview of database types; common databases, related software and their utilities (Medline, Entrez Gene, dbEST, Unigene, HPRD, PubMed, NEBcutter, Primer3plus, Primer Blast); concepts in primer designing and restriction site analysis and relevant tools.

Unit IV 4 Hrs

Human genome analysis: Relationship between mutations, SNPs, indels, CNVs and

alleles; significance of SNPs; GWAS; SNP databases and analysis using the databases;

NGS analysis for SNP detection; genomic vs. exomic analysis; case studies.

Unit V 4 Hrs

Metagenomics: concepts and case studies; demonstration of data analysis.

Unit VI 6 Hrs

Sequence analysis: Significance of sequence analysis; common methods used in sequence analysis and alignment; basic concepts of sequence similarity, identity and homology, definitions of homologs, orthologs, paralogs; common databases used to retrieve gene, mRNA and protein sequences; phylogenetic analysis with reference to nucleic acids and proteins, and their significance; comparison of operation and applications of BLAST and MSA, and interpretation of results; concepts in DNA and RNA motif analysis, relevant databases and software.

Unit VII 6 Hrs

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Transcriptome Analysis: Commonly used databases for transcriptomic data; micro-

array technology and analysis; RNA-seq analysis; miRNA analysis; ChIP-seq

technology and data analysis.

Unit VIII 4 Hrs

Bioinformatics for Proteins: Review of protein structures and domains; Obtaining

basic data/information on proteins of interest using databases; Use of databases for

protein-structures, gene ontologies, protein-interactions and pathways; concepts in

homology modeling, drug discovery and designing; biosimilars vs. traditional APIs and

concept of clinical trials.

HDGP3 LAB MODULE III: BIOCHEMISTRY & MOLECULAR BIOLOGY (CREDITS -4)

1. Basic Principles and Techniques I: Preparation of solutions: stock and

working solutions, concept of serial dilution; storing of solutions: making

aliquots, freezing, thawing; ways to express concentration of solutions: concept

of molarity; measuring and adjusting pH; appropriate handling of various

chemical compounds.

2. Analysis of proteins in cell lysates: Preparation of cell lysates;

chromatography (column and paper), dialysis, salting out, etc., estimation of

total protein (Lowry/Bradford); analysis of protein of interest by western

blotting.

3. Use of Antibodies in antigen analysis: ELISA.

4. Isolation of nucleic acids: DNA and RNA from E. coli, eukaryotic cells and

tissues; estimation and agarose gel electrophoresis; preparation of plasmid DNA

from bacterial cells, restriction digestion, analysis of products through agarose

gel electrophoresis.

5. Nucleic acid hybridization techniques and analysis: Southern, Northern and

reverse dot blots; probe preparation including labelling and purification.

6. Extraction of chromatin; Micrococcal nuclease and DNase-I digestion of

chromatin and analysis of DNA and proteins of nuclease sensitive and resistant

fractions.

7. Culturing bacteria and analysing phases of growth through a growth curve.

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****************************************************************************************************

HDGP4. LAB MODULE IV - CELL BIOLOGY

(CREDITS-3)

1. Basics of cell culture: Media preparation and filtration; sub-culturing and

reviving frozen stocks.

2. Cell counting, cell viability assay: Trypan blue exclusion.

3. Transfection and gap junction localization: Transfection and estimation of

transfection efficiency using wild-type and mutant Connexin-GFP expressing

constructs.

4. Cell viability assays: MTT assay, IC50 determination

5. Wound healing assay: Scratch test performed using a confluent culture of

Human cells.

6. Basics of light microscopy: Lecture plus demonstration

7. Early development of Drosophila melanogaster: collecting sychronised egg

lays, watching cellularisation and gastrulation in live embryos, staining with

nuclear dyes; using GFP expressing strains that label organelles, cytoskeleton,

mitotic spindles and cell-cell junctions during early development of Drosophila

embryos.

*********************************************************************************************

SEMESTER 3

HDG13. HUMAN MOLECULAR GENETICS (Lecture CREDITS-2) (TUTORIAL–1)

Introduction to Human Genetics 1 Hr

Unit I 3 Hrs

Genetic Disorders and Single Gene Inheritance: Overview of genetic disorders:

consequences and mechanisms; Nomenclature of mutations, importance of the

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position of a Base, databases of known mutations; from genotype to phenotype: loss of

function mutations, gain of function mutations, expanding repeats.

Unit I I 6 Hrs

Genetic Mapping of Monogenic Traits: Linkage analysis: genetic markers,

recombinants and non-recombinants, development of genetic markers; two-point

mapping, multipoint mapping: calculation of logarithm of odds (LOD) scores, Bayesian

calculation of linkage threshold, haplotype analysis and defining critical linked interval

in large pedigrees; autozygosity mapping; principles and strategies of identifying

disease genes, positional cloning and position independent approaches.

Unit I II 6 Hrs

Multifactorial Traits or Complex Disorders: Polygenic theory of quantitative traits;

partitioning of variance; polygenic theory of discontinuous characters; genetic

component assessment: twin and adoption studies; mapping of complex traits by non-

parametric linkage analysis and association studies.

Unit IV 4 Hrs

Identification of Candidate Disease Genes in a Post-Genomic Scenario: Genomic,

transcriptomic and proteomic approaches, genome-wide association studies (GWAS)

illustrated by whole genome/exome sequencing in the study of obesity.

Unit V 4 Hrs

Sex Linked Disorders, Sex Limited, Sex Influenced Traits, Genomic Imprinting

Unit VI 8 Hrs

Gene Action-Tracking Defects in Gene Function: Epigenetics and gene expression

defects with respect to (a) haemoglobinopathies, haemophilia, beta-thalassemia, sickle

cell anaemia (b) cystic fibrosis (c) laminopathies, Hutchinson-Gilford progeria

syndrome (d) glaucoma (e) genetics of epilepsy (f) infertility (g) macromolecular

storage disorders (glycogen and other carbohydrates) (h) Rett syndrome: an example

of genetic disorders in neurodevelopment (i) fragile X syndrome (j) dermatological

disorders (k) hearing impairment (l) genetics of intellectual disability and autism (m)

molecular basis for ataxia telangiectasia - one kinase, multiple function, (above list of

disorders will be reviewed according to availability of teachers).

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HDG14. BIOCHEMICAL GENETICS (Lecture CREDITS-1)(TUTORIAL-1)

Unit I 5 Hrs

Inborn Errors of Metabolism (IEM)

Basic concepts, including history; types of IEM; diagnosis, symptoms; inborn errors in

the metabolism of amino acids, carbohydrates, nucleic acids, lipids, vitamins and

minerals; treatment of IEM.

Unit II 5 Hrs

Lysosomal Storage Disorders (LSD)

Types of LSD, diagnosis, symptoms, disease mechanisms, biomarkers, and treatment.

Unit III 4 Hrs

Endocrine and Metabolic Diseases

Overview of diseases associated with the biosynthesis, degradation and action of

hormones; pathophysiology and treatment of diabetes mellitus; monogenic endocrine

diseases such as multiple endocrine neoplasia and congenital adrenal hypoplasia;

endocrine disruptors.

Unit IV 2 Hrs

Development of Drugs

Principles of pharmacology, including pharmacogenomics; Development of small

molecules and biopharmaceutical agents; cell based assays and preclinical models.

HDG16. POPULATION GENETICS AND EVOLUTION (Lecture CREDITS-1) (TUTORIAL-1)

Unit I

Overview and Evolution of the Physical Universe: Origins of the universe, big bang

theory, formation of the solar system, early earth; rock formation, plate tectonics,

geological time scale.

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Unit II

The origins of life on Earth: emergence of macromolecules, cells, role of RNA;

Precambrian life, brief introduction to Cambrian explosion and terrestrial life.

Unit III

Tree of Life: “Living forms are related”, fossil record, classification and phylogeny,

evolutionary transitions among genera, major transitions during evolution.

Unit IV

Adaptation and Natural Selection: phenotypic variation vs. genetic variation; theory

of Natural Selection; the ‘selfish gene’ concept; individual selection vs. group selection;

parasite-host adaptation; biogeographic evidence for evolution, major patterns of

distribution of species.

Unit V

Genes and evolution: origins of genetic variation, mutation rate, erosion and release

of variation by recombination, effect on fitness; alterations in karyotype; external

sources of genetic variation, hybridization, horizontal gene transfer

Unit VI

Fundamental principles of genetic variation in Populations: Frequencies of alleles

and genotypes, Hardy-Weinberg principle and significance in evolution; genetic

variation in natural populations, geographic variation, genetic distance.

Unit VII

Population structure and Genetic drift: Theory of genetic drift, genetic drift in

natural populations; Inbreeding and its effects on genetic drift; models of gene flow

and genetic drift, genetic hitchhiking; migration, extinction and recolonization; the

‘Neutral theory of molecular evolution’; population structure and gene trees,

haplotype diversity, gene trees and species trees.

Unit VIII

Speciation and macroevolution: Sympatric, allopatric and parapatric speciation;

ontogeny and phylogeny; rates of evolution; developmental principles of evolutionary

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change, developmental constraints, non-adaptive characters and discontinuity of

evolutionary change, evolution of novelty.

Unit IX

Evolution of Sex and sexual selection: evolution in asexual and sexual populations;

mate choice and signal detection; male vs. female reproductive fitness, cost of

reproduction.

Unit X

Evolution of Social behavior: evolution of different forms of social behavior,

evolution of cooperation and apparent altruism.

Unit XI

Evolution of Life Histories: major life history traits and fitness; evolution of

demographic traits, life span and senescence, age schedules of reproduction, number

and size of offspring.

Unit XII

The Evolution of Homo sapiens: Phylogenetic relationships, fossil record, origin of

modern human populations, migration and genetic variation in human populations;

the evolutionary future of humans; evolution of human behavior and cultural

evolution.

Unit XIII

The Implications of our Evolutionary Heritage on our Health: frequency of alleles

that cause disease among different populations, rare deleterious alleles; assortative

mating behavior and allele frequency; consanguinity, genetic drift and genetic diseases

in populations with a reduced number of founders; the occurrence of mutation

hotspots.

Unit XIV

Alternatives to natural selection.

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HDG17. CANCER BIOLOGY (Lecture CREDITS-1)

Unit I 6 Hrs

Basics about the Origins of Cancer: Basic mechanisms regulating normal tissue

homeostasis: regulation of cell-proliferation, growth, differentiation and apoptosis; the

regulation of growth in terms of volume/mass increase; the determination of cell size,

cytoplasmic to nuclear size ratio, the balance between signals that drive cell division

versus increase in cell volume; the role of stem cells in tissue homeostasis; DNA

replication and repair mechanisms; the loss of regulatory mechanisms that result in

cancer.

Unit II 3 Hrs

Genetic Alterations in Cancer: The nature of commonly occurring mutations: gain of

function, loss of function, copy number variation (CNV), chromosomal-translocations

etc.; methods of detecting genetic alterations and their use as diagnostic/prognostic

tools; disease management; mouse models for understanding the role of these gene

products in the development of cancer.

Unit III 5 Hrs

Epigenetic Mechanisms of Carcinogenesis: Epigenetic changes during normal

development and homeostasis, role of the Polycomb group (PcG) and Trithorax (Trx)

proteins in maintaining the balance between stem cell renewal and differentiation;

known alterations that occur in cancer; the basis of epigenetic therapy; insights from

mouse models.

Unit IV 1 Hr

Roles of Viruses in the development of Cancer

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Unit V 1 Hr

Current strategies in Therapeutics and Drug Design

HDGS1. MODEL ORGANISMS (LECTURES AND SEMINARS) (TUTORIAL CREDITS-1)

The course will consist of seminars and discussions led by invited speakers who use

model organisms in their research. This course is aimed at an interactive learning

experience for the students. The course could also consist of workshops conducted,

coordinated or sponsored by the Centre for Human Genetics.

Insights into the mechanisms of human disease obtained from studying the

biology of human diseases using model systems.

The following model systems could be studied, depending on the expertise available:

Unit I 3 Hrs

Planaria: Using a simple micro-organism to study the cell biology of regeneration.

Unit II 2 Hrs

C.elegans: Using orthologous genetic, mutant models to study the biology of metabolic

disorders such as diabetes, ageing and neuronal disorders such as Alzheimer’s disease,

muscular dystrophy, ion-channelopathies.

Unit III 3 Hrs

D. melanogaster: Using orthologous genetic, mutant models to study the biology of

diseases such as Alzheimer’s disease, neurodegenerative disorders, Parkinson’s

disease, triplet repeat expansion diseases, Fragile X syndrome, metabolic disorders

and diabetes.

Unit IV 2 Hrs

Zebrafish: Using vertebrate orthologous genetic, mutant models to study

haematological diseases such as sideroblastic anemia, polycythemia, and porphyria; T-

cell leukaemia models, Melanomas, heart defects resembling human dilated

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cardiomyopathies (DCMs), modeling Duchenne muscular dystrophy, Polycystic kidney

disease (PKD), etc.

Unit V 4 Hrs

Mouse: Studying humanised mouse models containing transplanted human cells or

the human orthologues of specific genes; genetic disorders such as hearing-loss

disorders; treatment of early onset cancers such as acute promyelocytic leukaemia

(APL); role of the protein Leptin in controlling obesity.

Unit VI 2 Hrs

Human Induced Pluripotent Stem Cells: as tools in drug development and modeling

diseases; the ability to create patient and disease specific stem cells.

HDGS2. DEVELOPMENTAL DISORDERS (Lecture CREDITS-1)

This course will consist of guest lectures by established medical practitioners and

scientists and will deal with diseases pertaining to specific organ systems. The topics

covered will include:

Unit I 2 Hrs

The genetics of breast cancer and kidney disorders.

Unit II 2 Hrs

Ophthalmic molecular genetics, focusing on the identification of genes responsible

for eye diseases such as retinoblastoma, corneal dystrophies, congenital cataracts

and retinitis pigmentosa.

Unit III 2 Hrs

Dermatology: skin diseases, such as eczema, epidermolysis bullosa.

Unit IV 1 Hr

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Immunology with specific emphasis on host-pathogen interactions and cohort based

studies to address susceptibility to co-infections.

Unit V 1 Hr

Immuno-endocrinology with emphasis on immuno-modulation during pregnancy.

Unit VI 1 Hr

The development of vaccines such as vaccines against Abrin toxin and Hepatitus C

viruses.

Unit VII 1 Hr

Host-pathogen interactions in the development of tuberculosis as a disease

condition.

Unit VIII 1 Hr

Nephrology with a particular emphasis on critical care nephrology and preventive

nephrology.

Unit IX 1 Hr

Differentiation of embryonic stem cells.

Unit X 2 Hrs

Pathology and therapy of neurodegenerative diseases and the screening of natural

products for any potential therapeutic role.

Unit XI 2 Hrs

Epilepsy and neurodegenerative disorders; brain-banking as an aid in brain research.

HDGT1. TERM PAPER (PRACTICAL-1)

The student will write and present an up to date review of literature on a selected

topic or alternately, a project proposal. This would serve as a platform to enhance the

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student’s skills in reading scientific literature, critical analysis of the literature and

communication skills. Special attention will be given to discouraging plagiarism.

HDGP5. LAB MODULE V- MOLECULAR DIAGNOSTICS (CREDITS -4)

1. Polymerase chain reaction (PCR) and its multiple applications

2. Primer design for PCR and sequencing.

3. DNA gel electrophoresis of PCR amplified products

4. Sanger sequencing of gene exons for mutation detection.

5. Analysis of Sequence-electropherograms and analysis of identified sequence

variations.

6. Quantitative PCR (qPCR) for estimation of gene copy or transcript expression

level.

7. Genotyping with PCR for deletion screening.

8. STR-based Human Identification

9. Detection of Fragile X mutation though capillary electrophoresis.

10. Multiplex Ligation Dependent Probe Amplification (MLPA)

HDGP6. DISSERTATION (PRACTICAL CREDITS-3) (TUTORIAL-1)

Each student will have one supervisor and a research committee of at least three

people including the supervisor.

This course consists of an individual research project to be carried out in one of the

research laboratories in CHG. This will be for the duration of the third and fourth

semesters. During the third semester the students will be expected to master the

literature behind the project and present a proposal of work, including preliminary

results.

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**************************************************************************************

SEMESTER 4

HDG18. HUMAN GENOME ORGANIZATION (Lecture CREDITS-1)

Unit I 2 Hrs

Regulation of Gene Expression (An overview): Transcriptional regulation: RNA

polymerase II promoters, enhancers and insulators; post transcriptional regulation:

alternative splicing, alternative poly-Adenylation, and alternative translation start

sites; nonsense-mediated decay and other mRNA surveillance mechanisms; microRNA,

RNA-interference.

Unit II 2 Hrs

Chromatin Organization and its effects on Gene Expression: Organization of

Euchromatin and Heterochromatin; Long-range gene regulation: DNA-methylation,

Histone modifications, imprinting, allelic exclusion, X-inactivation, multi-tiered

regulation of Homeobox genes; organization of the Y-chromosome; organization of

certain specific loci: immunoglobulin gene loci, T-cell receptor gene loci, Haemoglobin

gene locus; special stage specific chromosomal organization: for example, chromatin

during gametogenesis

Unit III 4 Hrs

Genome: Human genome mapping, structure of genome, genome organization and

variation.

Unit IV 8 Hrs

Analysis of the Human Genome: The genome landscape, gene number in comparison

to other organisms, sequence analysis, human genome mapping.

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HDG19. GENETIC COUNSELLING and EPIDEMIOLOGY (Lecture CREDITS-2)(TUTORIAL-1)

PART 1-GENETIC COUNSELLING

Unit I 1Hr

Introduction to genetic counseling

Unit II 3Hrs

Impact of illness on patients and families: Morbidity and support services, access to

education and economic support, social practices and health cost issues. Incidental detection

of other genetic disorders on pedigree evaluation and NGS testing, manifesting carriers,

later onset genetic disorders including neuro-genetic disorders, e.g., Huntington’s disease,

Myotonic dystrophy and Inherited cancers

Unit III 3Hrs

Congenital anomalies and rare medical disorders, its impact on community health and

health priorities: Incidence of common congenital anomalies and risk factors, pre-

pregnancy evaluation and intervention strategies, newborn screening for rare metabolic

disorders, Consanguinity and its impact on genetic disorders, registries and support groups

for rare medical disorders

Unit IV 3Hrs

Social and cultural issues in rare medical disorders: Evaluation of social attitudes and

customs, caste, consanguinity, economic status and cultural perceptions in the evaluation of

genetic disorders. Impact of disorders of sexual development (DSDs) and genetic

counselling in these disorders, eg., sex reversal, androgen insensitivity disorder and

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Klinefelter and Turner syndrome. Impact of rare disorders on decisions about marriage,

reproduction, prenatal diagnosis and integration in mainstream education and society

Unit V 3Hrs

Predictive counselling for late onset disorders, e.g., Huntington’s disease, breast and

ovarian cancer: Principles about predictive counselling and testing in late onset disorders,

imparting results of predictive testing, counselling and management in follow up sessions,

ethical issues in testing of minors, prenatal diagnosis in late onset disorders, ethical and

social issues

Unit VI 3Hrs

Genetic counseling in Clinics: Time spent in clinics (Clinical rotations) during the

semester.

These rotations will provide an opportunity for students to learn directly about medical

genetic conditions and their impact on individuals and families and interpretation of

medical diagnosis in real life clinical sessions based in a hospital outpatient setting. They

will gain practical insight in pedigree evaluation, recent advances in medical genetics,

therapy options, prenatal diagnosis and practical genetic counseling.

PART 2-GENETIC EPIDEMIOLOGY

Unit I 2 Hrs

Epidemiology: the study of the interplay between genetic and environmental factors

that result in human disease

Unit II 4 Hrs

Infectious Diseases: spread and management

Unit III 4 Hrs

Immunogenetics: Auto-immune diseases, HLA typing

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Unit IV 2 Hrs

Human Vaccines

Unit V 2 Hrs

Pharmacogenomics: genetic variations in patients that cause varied responses to a

drug.

Unit VI 2 Hrs

Genomes and Society: Topics related to modern medicine and treatment. Special

emphasis will be placed on the principles of human genomics (including human

genome organization, complex disease and large scale genomic analysis) and how they

relate to the field of translational genomics (connecting human genetics with drug

design); brief discussion on ethical and societal issues concerning personalized

medicine as well as its implications on modern health care.

HDG20. ETHICAL IN CLINICAL AND BIOMEDICAL RESEARCH

(Lecture CREDITS-2) (TUTORIAL-1)

Unit I: Clinical Ethics Unit II: Ethical issues in prenatal diagnosis and newer reproductive technologies

Unit III: Genetic testing in adult onset disorders

Unit IV: Testing of vulnerable populations

Example: children of intellectually incapacitated individuals, consent and confidentiality.

Unit V: Research Ethics

The use of placebos, conflicts of interest and clinical trials, research on animals and

vulnerable populations, research in developing countries

Unit VI: Role and Scope of Institutional review board in scientific research.

Unit VII: Global & Population Ethics: global disparities in health and public health, global

pandemics, population growth, human rights to health and health care, Role of foreign aid

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Unit VIII: Ethics of New Technologies:

Embryonic stem cells, cloning, genetic engineering, synthetic biology

Unit IX: Environmental & Animal Ethics: species preservation, biodiversity loss,

ecosystem services, the use and misuse of animals, ethics

Unit X: Medico-legal Issues: Surrogacy, Organ donation, Paternity testing

Students will also work on a short-term project on Ethics in Biomedical sciences at various

organizations in around Bangalore.

HDGP7. DISSERTATION (PRACTICAL CREDITS-8) (TUTORIAL-2)

Each student will have one supervisor and a research committee of at least three

people including supervisor.

This course is a continuation of the individual research project started in the third

semester in one of the research laboratories in CHG. During the fourth semester, the

students will be expected to complete the project and present their results through a

seminar and written dissertation.

*******************************************************************************************************

References

SEMESTER1

HDG01. Fundamentals of Genetics

1. AH Sturtevant (2001) History of Genetics, Cold Spring Harbor Laboratory Press

2. AJF Griffiths, JH Miller, DT Suzuki, RC Lewontin, and WM Gelbart (2000) An

Introduction to Genetic Analysis, W.H Freeman Publication, 7th Edition

3. DP Snustad and MJ Simmons (2012) Principles of Genetics, John Willey & Sons

Publication, 6th Edition

4. DL Hartl and EW Jones (2008) Genetics: Analysis of Genes and Genomes, Jones and

Bartlett Publication

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5. R Nussbaum, RR McInnes, HF Willard (2007) Thompson and Thompson Genetics in

Medicine, Elseiver Health Sciences, 7th Edition

6. SR Maloy, JE Cronan, D Freifelder(1994) Microbial Genetics, Jones and Bartlett

Publication, 2nd edition

7. Educational resource built around Mendel’s work: http://www.mendelweb.org/

HDG02. Biochemistry

1. DL Nelson and MM Cox (2013) Lehninger, Principles of Biochemistry, WH Freeman

Publication, 6th Edition

2. D Voet and JG Voet (2010) Biochemistry, John Willey & Sons Publication, 4th Edition

3. JM Berg, JL Tymoczko and L Stryer (2010) Biochemistry, WH Freeman Publication, 7th

Edition

4. V Rodwell, D Bender, KM Botham, PJ Kennelly and PA Weil (2015) Harper’s Illustrated

Biochemistry, Mc Graw Hill Publication, 30th Edition

5. Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology. 2nd edition.

Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2009. Available from:

http://www.ncbi.nlm.nih.gov/books/NBK1908/

6. Nussey S, Whitehead S. Endocrinology: An Integrated Approach. Oxford: BIOS Scientific

Publishers; 2001. Chapter 1, Principles of endocrinology. Available from:

http://www.ncbi.nlm.nih.gov/books/NBK20/

7. Robert A. Weinberg, The Biology of Cancer, Garland Science; 2nd edition, 2013

HDG03. Cell and Biology and Cytogenetics

1. JD Watson (2013) Molecular Biology of the Gene, Pearson Publication, 7th Edition

2. B Alberts, A Johnson, J Lewis, M Raff, K Roberts and P Walter (2014) Molecular Biology

of the Cell, Taylor and Francis Publication, 6th Edition

3. H Lodish, A Berk, SL Zipursky, P Matusdaira, D Baltimore and J Darnell (2012) Molecular

Cell Biology, W. H. Freeman and Company, 7th Edition

4. JE Krebs, ES Goldstein and ST Kilpatrick (2012) Lewin’s Gene XI, Jones and Bartlett

Learning Publication, 11th Edition

HDG04. Human Embryology and Anatomy

1. TW Sadler (2011) Langman’s Medical Embryology, Lippincott Williams and Willkins

Publication

2. S Standring (2008) Gray’s Anatomy, Churchill Livingstone Publication, 40th Edition

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3. E Hall (2010) Guyton and Hall, Text book of Medical Physiology, Saunders

Publication, 12th Edition

4. SF Gilbert (2013) Developmental Biology, Sinauer Publication, 10th Edition

5. L Wolpert, C Tickle and AM Arias (2015) Principles of Development, Oxford University

Press, 5th Edition

6. EF Keller (2002) Making Sense of Life: Explaining Biological Development with

Models, Metaphors and Machines, Harvard University Press, 1st Edition

7. Scott F. Gilbert and Anne M. Raunio (1997) Editors, Embryology, Constructing the

Organism, Elsevier Science.

HDG05. Statistical Methods

1. JH Zar (2010) Biostatistical Analysis, Prentice Hall Publication, 5th Edition

HDGP1. Lab Module I-Genetics

1. RJ Greenspan (2004) Fly Pushing: The Theory and Practice of Drosophila Genetics,

Cold Spring Harbor Laboratory Press

2. S Chyb and N. Gompel (2013) Atlas of Drosophila Morphology: Wild Type and

Classical Mutants, Academic Press, Elseiver

3. DS Henderson (2004) Drosophila Cytogenetics Protocols, Humana Press Inc.

4. PA Lawrence (1992) The Making of a Fly: the Genetics of Animal Design, Wiley

Publications

5. C Dahmann (2010) Drosophila: Methods and Protocols (Methods in Molecular

Biology), Humana Press Inc.

6. M Ashburner(2011) Drosophila A Laboratory Handbook, Cold Spring Harbor

Laboratory Press

7. W Sullivian, M Ashburner, RS Hawley (2000) Drosophila Protocols, Cold Spring Harbor

Laboratory Press

HDGP2. Lab Module II-Clinical and molecular cytogenetics

1. JL Hamerton (2013) Human Cytogenetics: Clinical Cytogenetics, Academic Press

2. S Gersen and MB Keagel (2013) The Principles of Clinical Cytogenetics, Springer

Science and Buisness Media Publication

*******************************************************************************************************

SEMESTER2

HDG08. Molecular Biology

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1. JD Watson (2013) Molecular Biology of the Gene, Pearson Publication, 7th Edition

2. B Alberts, A Johnson, J Lewis, M Raff, K Roberts and P Walter (2014) Molecular

Biology of the Cell, Taylor and Francis Publication, 6th Edition

3. H Lodish, A Berk, SL Zipursky, P Matusdaira, D Baltimore and J Darnell (2012)

Molecular Cell Biology, W. H. Freeman and Company, 7th Edition

4. JE Krebs, ES Goldstein and ST Kilpatrick (2012) Lewin’s Gene XI, Jones and Bartlett

Learning Publication, 11th Edition

HDG09. Biotechniques

1. H Lodish, A Berk, SL Zipursky, P Matusdaira, D Baltimore and J Darnell (2012)

Molecular Cell Biology, W. H. Freeman and Company, 7th Edition

2. B Alberts, A Johnson, J Lewis, M Raff, K Roberts and P Walter (2014) Molecular Biology

of the Cell, Taylor and Francis Publication, 6th Edition

3. T Strachan and AP Read (2011) Human Molecular Genetics, Garland Science, Taylor

and Francis Group Publication, 4th Edition

4. J Sambrook and DW Russell (2001) Molecular Cloning: a Laboratory Manual. Cold

Spring Laboratory Press, 6th Edition

5. SB Primrose, R Twyman and B Old (2004) Principles of Gene Manipulation.

University of California Press Publication, 6th Edition

HDG10. Principles of Development

1. SF Gilbert (2013) Developmental Biology, Sinauer Publication, 10th Edition

2. L Wolpert, C Tickle and AM Arias (2015) Principles of Development, Oxford University

Press, 5th Edition

3. Jonathan M W Slack (2012), Essential Developmental Biology, Wiley-Blacwell, 3rd

Edition.

HDG11. Bioinformatics

1. T Lengauer (2001) Bioinformatics-From Genomes to Drugs, Willey VCH Publication,

1st Edition

2. SM Brown (2000) Bioinformatics: A Biologist’s Guide to Computing and the

Internet, Eaton Pub Co Publication, 1st Edition

3. R Blum and C Bresnahan (2015) Linux Command Line and Shell Scripting Bible,

Wiley and Sons Publication, 3rd Edition

4. J Tisdall (2001) Beginning Perl for Bioinformatics, O’Reilly Media Publication, 1st

Edition

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5. S Mitra and T Acharya (2003) Data Mining Soft Multimedia, Soft Computing and

Bioinformatics, John Willey and Sons Publication, 1st Edition

Databases:

1. NCBI Genome Browser and databases: http://www.ncbi.nlm.nih.gov/

2. UCSC Genome Browser: http://genome.ucsc.edu/

3. Ensemble Genome Browser: http://www.ncbi.nlm.nih.gov/

4. Protein Catalog ExPAsy: http://www.expasy.org/

5. Protein Catalog Uniprot: http://www.uniprot.org/

HDGP3. Lab Module III-Biochemistry and Molecular Biology

1. K Willson and J Walker (2010) Principles and Techniques of Practical

Biochemistry, Cambridge University Press, 7th Edition

2. Protocols Online: http://www.protocol-online.org/

3. Sambrook and DM Russell (2001) Molecular Cloning: a Laboratory Manual. Cold

Spring Laboratory Press Publication, 6th Edition

4. FM Ausubel (1990) Current Protocols in Molecular Biology, John Willey and Sons

Publication

5. Protocols Online: http://www.protocol-online.org/

HDGP4. Lab Module IV-Cell Biology

1. JS Bonifacino (2003) Current Protocols in Cell Biology, John Willey & Sons

Publication

2. Protocols Online: http://www.protocol-online.org/

3. PA Lawrence (1992) The Making of a Fly: the Genetics of Animal Design, Wiley

Publications

4. C Dahmann (2010) Drosophila: Methods and Protocols (Methods in Molecular

Biology), Humana Press Inc.

5. M Ashburner(2011) Drosophila A Laboratory Handbook, Cold Spring Harbor

Laboratory Press

6. W Sullivian, M Ashburner, RS Hawley (2000) Drosophila Protocols, Cold Spring

Harbor Laboratory Press

*******************************************************************************************************

SEMESTER 3

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HDG13. Human Molecular Genetics

1. T Strachan and AP Read (2011), Human Molecular Genetics, Garland Science/Taylor

and Francis Group Publication, 4th Edition.

2. For information on Mendelian phenotypes: http://www.omim.org

3. Access to Biomedical Literature: http://www.ncbi.nlm.gov/entrez

HDG14. Biochemical Genetics

1. CR Scriver, A Beaudet, WS Sly, D Valle, B Childs, KW Kinzler and B Vogelstein (2000)

The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill Publication,

8th Edition

2. L Buckingham (2011) Molecular Diagnostics: Fundamentals, Methods and Clinical

Applications, FA Davis Company Publication, 2nd Edition

3. CA Burtis, D Bruns and ER Ashwood (2007) Fundamentals of Molecular

Diagnostics, Saunders, Elsevier Publication

4. P George, GP Patrinos and WJ Ansorge (2010) Molecular Diagnostics, Academic

Press, Elsevier Publication, 2nd Edition

HDG16. Population Genetics and Evolution

1. DL Hartl and AG Clark (2006) Principles of Population Genetics, Sinauer

Associates Publication, 4th Edition

2. LL Cavalli-Sforza and WF Bodmer (2013) The Genetics of Human Population,

Dovers Publication

3. M Jobling, E Hollox, M Hurles, T Kivisild and C Tyler-Smith (2013) Human

Evolutionary Genetics, Garland Science/Taylor and Francis Group Publication,

2nd Edition

HDG17. Cancer Biology

1. RA Weinberg (2012) Biology of Cancer, Garland, Taylor and Francis Group

Publication, 2nd Edition

2. B Alberts, A Johnson, J Lewis, M Raff, K Roberts and P Walter (2008) Molecular

Biology of Cell, Taylor and Francis group Publication, 5th Edition

3. VT DeVita, TS Lawrence and SA Rosenberg (2015) Devita, Hellman, and Rosenberg's

Cancer: Principles & Practice of Oncology, Wolters Kluwer Publication, 10th Edition

HDGS1. Model Organisms (Seminars)

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1. SF Gilbert, AM Raunio, NJ Haver (1997) Embryology: Constructing the

Organism, Sinauer Associates Inc. Publication

2. T Strachan and AP Read (2011) Human Molecular Genetics, Garland Science,

Taylor and Francis Group Publication, 4th Edition

3. A Spradling, B Ganetsky,P Hieter,M Johnston,M Olson,T Orr-Weaver,J Rossant,A

Sanchez, R Waterston (2006) New roles for model genetic organisms in

understanding and treating human disease: report from the 2006 Genetics

Society of America meeting. Genetics. 172: 2025-2032.

4. Online resource -Using Model organisms to study Health and Disease:

http://www.nigms.nih.gov/Education/Pages/modelorg_factsheet.aspx

5. Online resource-Model organisms for Biomedical research:

http://www.nih.gov/science/models/

HDGS2. Diseases of Organ Systems

1. DL Rimoin, RE Pyeritz, B Korf (2013), Emery and Rimoin’s Principles and

Practice of Medical Genetics, Elseivier Science Publication, 6th Edition.

2. Genes and Diseases (NCBI Bookshelf):

http://www.ncbi.nlm.nih.gov/books/NBK22185/

HDGP5. Lab Module V. Molecular Diagnostics

1. JL Hamerton (2013) Human Cytogenetics: Clinical Cytogenetics, Academic Press

2. S Gersen and MB Keagel (2013) The Principles of Clinical Cytogenetics, Springer

Science and Buisness Media Publication

3. RL Nussbaum, RR. McInnes and HF Willard (2007) Thomson and Thomson Genetics

in Medicine, Saunders, Elseivers Publication

4. LB Jorde, JC Carey and MJ Bamshad (2009) Medical Genetics, Elseivers Publication

5. S Heim, F Mitelman (2011) Cancer Cytogenetics: Chromosomal and Molecular

Genetic Aberrations of Tumor Cells, John Willey and Sons Publications

6. L Buckingham (2011) Molecular Diagnostics: Fundamentals, Methods and Clinical

Applications, FA Davis Company Publication, 2nd Edition

7. CA Burtis, D Bruns and ER Ashwood (2007) Fundamentals of Molecular

Diagnostics, Saunders, Elseivers Publication

8. P George, GP Patrinos and WJ Ansorge (2010) Molecular Diagnostics, Academic

Press, Elseiver Publication, 2nd Edition

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SEMESTER4

HDG18. Human Genome Organization

1. TA Brown (2006) Genomes 3, Garland Science Publication, 3rd Edition

2. H Lodish, A Berk, SL Zipursky, P Matusdaira, D Baltimore and J Darnell (2012)

Molecular Cell Biology, W. H. Freeman and Company, 7th Edition

HDG19. Genetic Counseling and Genetic Epidemiology

1. K Park (2011) Park's Textbook of Preventive and Social Medicine, Banarsidas

Bhanot Publication, 21st Edition.

2. J Owen, J Punt and S Stranford (2013) Kuby Immunology, WH Freeman

Publication, 7th Edition.

3. T Strachan and A Read (2011), Human Molecular Genetics, Garland

4. Science/Taylor and Francis Group Publication, 4th Edition.

5. Peter Turnpenny and Sian Ellard (Eds) (2012) Emery’s Elements of Medical

Genetics, Elsevier, 14th Edition.

6. R.J. MKinlay Gardner, Grant R Sutherland, and Lisa G. Shaffer (2011), Chromosome

abnormalities and Genetic counselling, Oxford University Press, 4th Edition.

7. David L. Rimoin, Reed E. Pyeritz and Bruce Korf. (Eds.) (2013) Emery and

Rimoin's Principles and Practice of Medical Genetics, Elsevier, 6th Edition.

8. Peter S Harper (2010), Practical Genetic Counselling Elsevier, 7th Edition.

9. Jean-Marie Saudubray, Georges van den Berghe, John H. Walter, (Eds.)(2012),

Inborn Metabolic Diseases: Diagnosis and Treatment, Springer, 5th Edition.

HDG20. Ethics in Clinical and Biomedical Research

1. T Smith (1999) Ethics in Medical Research: A Handbook of Good Practice,

Cambridge University Press

2. IS Shergill, A Thompson and N Temple (2011) Ethics, Medical Research, and

Medicine: Commercialism versus Environmentalism and Social Justice,

Springer Science and Business Media Publication

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Syllabus for Alternative Courses (Soft Core)

SEMESTER 1

HDG06. HISTORY OF GENETICS

(CREDITS-2)(TUTORIAL-1)

Unit I 2 Hrs

Theories on Inheritance before Mendel: Views of Hippocrates, Darwin and

Aristotle, experiments of Maupertuis, Kolreuter and others.

Unit II 4 Hrs

Mendel and the Birth of Mendelism (1822-1884): Mendel’s Life History, Mendel’s

experiments, results, hypothesis, their publication and reception.

Unit III 3 Hrs

The 1866-1900 Period: Weismann’s theory of the germplasm, cell theory and the

early cytological studies of chromosomes, mitosis and meiosis, (Flemming,

Strasburger, Van Beneden and Caldwell), Roux’s experiments and the views of Hugo

de Vries, Bateson and Korschinsky.

Unit IV 4 Hrs

Rediscovery of Mendel’s Work: Roles of Hugo de Vries, Carl Correns and Erich von

Tschermak; Bateson’s view on Mendel’s work and the origin of genetic terminology.

Unit V 2 Hrs

Relationship of Inheritance, Chromosomes and Mendel’s Law: Cytological studies

of Boveri, Correns, Cannon, Montgomery and Sutton.

Unit VI 3 Hrs

Concept of Linkage, Linkage Mapping and Drosophila Genetics: Genes on a

chromosome, problems of independent assortment, first report of Linkage (Correns),

incomplete linkage (coupling and repulsion by Bateson and Punnett), the observations

of Janssens (Chiasma); Henking and McClung’s findings of the X-Chromosome, Nettie

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Stevens’s XX and XY Genotypes and Gender, Bridges’ contribution on sex linkage and

non-disjunction, Morgan’s explanation of autosomal linkage and cross-over,

Sturtevant’s linkage map and mapping genes in the fruit fly, Drosophila melanogaster.

Unit VII 3 Hrs

Genetics of Continuous Variation: Contributions of Francis Galton.

Unit VIII 2 Hrs

The Discontinuous Variation: Mutation theory of Hugo de Vries and H J Muller’s

induced mutations in the fruit fly, Drosophila melanogaster.

Unit IX 2 Hrs

Cytological Map and Cytology of Crossing Over

Unit X 3 Hrs

Sex Determination, Concepts of Position and Maternal Effects: Contributions of

Morgan, Bridges, Metz, Stern, Heitz and Painter (sex-determination in Drosophila),

Warmke and Blakeslee’s studies on sex-determination in Melandrium; Baltzer’s

findings on the role of the environment on sex determination; the study of “Bar” eye

reversion and the 16A locus by May, Morgan, Sturtevant and others.

Unit XI 4Hrs

Genetics and Branches of Science: Genetics and Immunology, Biochemical Genetics,

Population Genetics and Evolution, Microbial Genetics and Human Genetics: origin,

initial studies and contributing scientists.

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SEMESTER 2

HDG12. THERAPEUTICS: PHARMACOGENOMICS AND VACCINES

(CREDITS-2)(TUTORIAL-1)

PART 1: DEVELOPMENT OF VACCINES

Unit I 1Hr Public Health and Vaccine Development Process Unit II 2Hrs Vaccine Immunology and Preclinical Research Unit III 2Hrs Vaccine Manufacture and Quality Control Processes Unit IV 2Hrs Infectious Diseases and Vaccine Prevention Unit V 2Hrs Clinical Development Methodology, Biostatistics and Clinical Data management Unit VI 2Hrs Pharmaco-vigilance Unit VII 2Hrs Epidemiology, Health Systems and Economics Unit VIII 1Hr Good Clinical Practices, Clinical Quality Assurance and Clinical Trial Operations Unit IX 1Hr Regulatory Affairs Unit X 1Hr Policies and Recommendations for Vaccines in the World

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PART 2: PHARMACOGENOMICS Unit I 1Hr Introduction Unit II 1Hr Pharmacokinetics: Drug absorption, distribution, metabolism and excretion; types of drugs: pro-drugs and active drugs. Unit III 2Hrs Understanding Drug Response: Types of metabolizers: extensive, intermediate, poor and ultra-rapid metabolizers; drug-gene interactions, drug-drug interaction, toxicity of drugs, multidrug resistance. Unit IV 2Hrs From Pharmacogenetics to Pharmacogenomics: Genes, genome and epigenetics. Unit V 2Hrs Identifying Genes for Drug Response: GWAS, expression analysis and cheminformatics, pathway-based methods. Unit VI 2Hrs Role of Pharmacogenetics in Drug Discovery: A pharmacogenetic study design. Unit VII 2Hrs Applications of Pharmacogenetics in Clinic: Drug prescription, personalized medicine and pretreatment screening, drug toxicity, drug dose, drug efficacy, drug labeling. Unit VIII 1Hr Computation Advances and Pharmacogenetics Resources: PharmGKB, DrugBank. Unit IX 1Hr Challenges of Pharmacogenetic Studies: Drug safety, drug response in populations, ethics: privacy and confidentiality, informed consent in research and treatment; legal Implications.

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Unit X 2Hrs Therapeutic Areas: Pharmacogenetics in oncology, pain management, psychiatry, cardiology and forensics.

SEMESTER 3

HDG15. ADVANCED BIOINFORMATICS (lecture CREDITS-1) (TUTORIAL-1)

Unit I

Linux: Introduction to computers, software and operating systems; history and

features of UNIX and GNU/Linux; Unix file system, file and directory commands, file

permissions; basic commands, I/O redirection and piping, simple and advanced filters;

sed command, vi as text editor; archives and file compressions; processes: background

processes and scheduled processes; alias and environmental variables.

Unit II

Shell Programming: Multiple commands as a shell script simple shell script creation

and execution; variables: system variables and user defined variables, read values to

variables, mathematic and string handling; decisions and loopings: if, for and while

loops, case statement; awk programming, terminal formatting using echo and tput;

functions: calling functions; passing arguments; receiving parameters; local variables;

returning values from functions; unsetting functions; Signals: handling signals;

ignoring signals.

Unit III

C Programming: Programming basics: algorithm and flowcharts, compiling, linking,

executing, testing and debugging; C: variables and data types in C; operators:

arithmetic, relational, boolean and bitwise operators; I/O and formatted I/O. Loops: if,

for and while loops, goto and switch statements; functions, subroutines, recursions;

application to simple problems; the pre-processor; simple macros; macros with

arguments; macros v/s functions; #include; conditional compilation; passing

command line arguments.

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Unit IV

Arrays, Strings, Storage classes and Pointers: Arrays in C; defining and using 2D

arrays; multi-dimensional arrays; array operations; strings: string operations using

string.h, storage of strings in arrays; extern, static, auto and register; linking modules;

pointers: declaring and using pointers; operations on pointers; void pointers; NULL

pointers; function pointers; pointers and functions: passing by value, passing by

pointers; pointers and arrays: array storage and properties, array and pointer

conversions; pointers and strings: string operations using pointers; passing arrays to

functions.

Unit V

Structures and Unions, Memory allocation and File handling: Structures: defining,

instantiating and operating on structures, pointers to structures; structure memory

organisation; nested structures; arrays of structures; bit-fields; need for unions;

memory organisation of unions; memory allocation: static memory allocation; need

for dynamic memory allocation; malloc() and calloc(); free(); memory problems:

memory leaks, dangling pointers, invalid deallocation; file handling: opening files in

various modes; closing files; reading and writing characters; reading and writing

strings; formatted I/O on files; raw I/O on files; seeking in files; application to

bioinformatics problems.

SEMESTER 4

HDG21. INTELLECTUAL PROPERTY AND PATENTS

(CREDITS-2)(TUTORIAL-1)

PART I - INTRODUCTION TO IPR & PATENTS

Unit I 1Hr

Understanding Intellectual Property Rights: Introduction, history of patent

protection, rationale behind the patent system

Unit II 2Hrs

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An Overview of the IPR Regime: The industrial property system, patents,

trademarks, copyrights, industrial design, layout design of integrated circuits,

undisclosed information - trade secrets

Unit III 2Hrs

Definition and Content of Patents System: Definition of patents, TRIPS, definition,

various kinds of patent systems, inventions and invention excluded from patentability,

process and product patent, acquiring a patent, method of acquiring a patent, patent

specification, patent claims

Unit IV 2Hrs

Enforcement of Patents: The term of a patent, the working of a patent, compulsory

licensing, licenses of rights, obligations of a patentee

Unit V 1Hr

Exploitation of Patents: Rights of the patentee, infringement & remedies, literal

infringement, infringement by equivalents – doctrine of equivalents; defenses of

infringement.

Unit VI 1Hr

Abuse of Patents: Statement on working of patents, voluntary licensing & compulsory

licensing, licenses of rights, the concepts of meeting “reasonable requirement of the

public at reasonable cost”, revocation of patents

PART II - PATENTING IN INDIA

Unit I 2Hrs

Legislations and Salient Features: Indian Patents Act 1970, Patent Amendment Act

2005, WTO TRIPS - Indian legislation.

Unit II 2Hrs

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Patent Search: Patent offices in India, patent information and databases, search

methods/tools, patent information centers, advantages of patent search, international

patent classification, patent search.

Unit III 2Hrs

Procedures for Patent Applications: Patentability, exclusions from patentability,

acquisition of patents, preparation of patent specification, patent office procedure,

construction of patent claims

Unit IV 1Hr

Drafting of Patents: Patent infringement

PART III - AMERICAN & EUROPEAN PATENT REGIMES

Unit I 2Hrs

US Patent Regime: Title 37 CFR, patentability, utility, novelty, non obviousness,

patent specification – best mode

Unit II 2Hrs

European Patent Regime: European patent convention, patentable inventions in

European patent systems, history of the broad definition of patentability, final form of

European patent system, development of EPO practice in relation to software

industries

Unit III 1Hr

Business Model Patents - Biotech Patents

Unit IV 1Hr

Software Patents

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Unit V 1Hr

Patentability of Life Forms

PART IV- INTERNATIONAL TREATIES/CONVENTIONS ON IPR

Unit I 1Hr

Paris Convention: Background, salient features of Paris convention, governing rules

of Paris convention

Unit II 1Hr

World Intellectual Property Organization (WIPO): Background, salient features of

WIPO, organization of WIPO

Unit III 1Hr

World Trade Organization: Evolution of WTO, organization of WTO

Unit IV 1Hr

TRIPS Agreement: Background, salient features of TRIPS, TRIPS and Indian IPR,

TRIPS and PARIS convention – a comparison

Unit V 1Hr

Patent Co-operation Treaty: Background, objectives of PCT, salient features of PCT

Unit VI 1Hr

Budapest Treaty

Unit VII 1Hr

Convention of Bio-Diversity

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Unit VIII 1Hr

Madrid Agreement

Unit IX 1Hr

Discussions: Opinions of patentability, preparation of patent specifications,

patentability of software & biotechnology related inventions, licenses of Rights,

infringement issues in patents

References

SEMESTER1

HDG06. History of Genetics

1. AH Sturtevant (2001) History of Genetics, Cold Spring Harbor Laboratory Press

SEMESTER2

HDG12. Therapeutics: Pharmacogenomics and vaccines

1. RG Hill (2012) Drug Discovery and Development: Technology in Transition, Churchill Livingston Publication

2. RB Altman, D Flockhart, DB Goldstein (2012) Principles of pharmacogenetics and pharmacogenomics. Cambridge: Cambridge University Press. 400 p.

3. RB Altman, HK Kroemer, CA McCarty, MJ Ratain and D Roden (2010) Pharmacogenomics: will the promise be fulfilled? Nat Rev Genet 12: 69–73.

4. RB Altman (2011) Pharmacogenomics: ‘noninferiority’ is sufficient for initial implementation. Clin Pharmacol Ther 89: 348–350.

5. TE Klein, JT Chang, MK Cho, KL Easton, R Fergerson (2001) Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base. Pharmacogenomics J 1: 167–170.

6. AD Roses (2000) Pharmacogenetics and the practice of medicine. Nature 405: 857–865.

7. AD Roses (2004) Pharmacogenetics and drug development: the path to safer and more effective drugs. Nat Rev Genet 5: 645–656.

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SEMESTER3

HDG15. Advanced Bioinformatics

1. C. Negus (2004) Red Hat linux 7.2 Bible (2004); Wiley India Pvt Ltd Publication

2. B. McCarty (1999) Learning Red Hat linux, O'Reilly & Associates Inc. Publication

3. V. Rajaraman (1994) Computer programming in C Prentice-Hall of India Publication

4. D Ritchie (2007) The C programming language, Pearson Education Publication

5. Y Kanetkar (1999) Let us C, BPB Publications

SEMESTER4

HDG21. Intellectual Property and Patents

1. RP Merges, PS Menell, MA Lemley (2012) Intellectual Property in the New Technological Age, Sixth Edition (Aspen Casebook Series) Hardcover, Robert P. Aspen Publishers; 6th edition