The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing...

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The Beery Family Whole Genome Sequencing Success Retta Beery Patient Advocate, Mother of Twins with Rare Neurologic Disorder

Transcript of The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing...

Page 1: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

The Beery Family �Whole Genome Sequencing

Success

Retta Beery!Patient Advocate, Mother of Twins with !Rare Neurologic Disorder

Page 2: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

�Zach, Noah, and Alexis Beery �

1996

Page 3: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

INCORRECT DIAGNOSIS OF

CEREBRAL PALSY IN 1998

TREATMENT CENTERED AROUND

INCORRECT DIAGNOSIS

FINANCIAL, EMOTIONAL, AND PHYSICAL COSTS

MOUNT

1996-2002

Multiple pediatricians !4 gastroenterologists !6 neurologists !1 pediatric urologist!5 naturopathic!Physical therapists!Occupational therapists !Speech therapists!Blood drawn 200+ times!4 pediatric ophthalmologist!4 orthopedic surgeons

Multiple X-rays!1 surgery (Alexis)!5 EEGs!8 MRIs !8 CT scans!9 Ultrasounds!Countless ER visits!3 Upper GI’s 3 pulmonologists!

3 ENT!5 allergists!1 oral surgeon!1 genetic doctor

Page 4: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder
Page 5: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

“Segawa's Dystonia Mimics Cerebral Palsy but is Treatable” Times Science, April 8, 1991

Page 6: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder
Page 7: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder
Page 8: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder
Page 9: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

Alexis - 2009-2010 •  7 emergency room visits!•  7 chest x-rays!•  23 blood draws!•  2 MRIs!•  CT scan!•  17 Pediatrician Visits!•  2 ENTs!•  2 Pulmonologists!•  3 Allergists!•  1 Gastroenterologist!•  3 Neurologists!•  1 Endoscopy!•  2 (24 hour) Monitors!•  Countless testing done by each

specialist!

No Answers!

Physical Cost!

Emotional Cost!

Financial Cost!

Struggling to Keep!Alexis Breathing !

while!Waiting for Answers

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Page 11: The Beery Family Whole Genome Sequencing Success · The Beery Family Whole Genome Sequencing Success Retta Beery! Patient Advocate, Mother of Twins with ! Rare Neurologic Disorder

The Genetic Findings

•  Dopamine Responsive Dystonia in the Beery family is caused by mutations in Sepiapterin Reductase gene!

•  Two hits (mutations) were found in DNA samples coming from Alexis and Noah: K251X and R150G

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Whole Genome Sequencing

•  Consent Forms!

•  Blood Draws!

•  Gathering Information!

Definitive, Complete Diagnosis for Noah and

Alexis!

Additional Therapy!Resulting in Breath!

for Alexis and Higher !Function for Noah!

New Life for our!

Family

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Alexis Misdiagnosed !

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Alexis after Whole Genome Sequencing!

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Class 02: Whole genome sequencing. The seminal papers ``Is Whole Genome Sequencing Feasible?'' ``Whole-Genome DNA.

Class 02: Whole genome sequencing. The seminal papers ``Is Whole Genome Sequencing Feasible?'' ``Whole-Genome DNA.

Sequencing the Human Genome€¦ · • Weber, J. L., & Myers, E. W. (1997). Human whole-genome shotgun sequencing. Genome Res, 7(5), 401-409. – Use clone end sequencing generating

Sequencing the Human Genome€¦ · • Weber, J. L., & Myers, E. W. (1997). Human whole-genome shotgun sequencing. Genome Res, 7(5), 401-409. – Use clone end sequencing generating

sequencing of genome

sequencing of genome

WHOLE GENOME SEQUENCING: Transforming …...WHOLE GENOME SEQUENCING: Transforming health research What is the purpose of whole genome sequencing? Whole genome sequencing turns blood

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Sequencing the Maize (B73) Genome Genome Sequencing Center Maize Genome Sequencing Consortium.

Sequencing the Maize (B73) Genome Genome Sequencing Center Maize Genome Sequencing Consortium.

Sequencing a genome (a) outline the steps involved in sequencing the genome of an organism; (b) outline how gene sequencing allows for genome- wide comparisons.

Sequencing a genome (a) outline the steps involved in sequencing the genome of an organism; (b) outline how gene sequencing allows for genome- wide comparisons.

Genome Annotation - NDSUmcclean/plsc411/Genome... · Genome Annotation . Genome Sequencing • Costliest aspect of sequencing the genome o But Devoid of content • Genome must be

Genome Annotation - NDSUmcclean/plsc411/Genome... · Genome Annotation . Genome Sequencing • Costliest aspect of sequencing the genome o But Devoid of content • Genome must be

Microbial Genome Sequencing Projects

Microbial Genome Sequencing Projects

Presentation on genome sequencing

Presentation on genome sequencing

Genome Sequencing - NDSUmcclean/plsc411/Genome Sequencing...Genome Sequencing . ... Here the Phred scores are overlaid on the chromatogram of a Sanger sequencing output. ... o Directed

Genome Sequencing - NDSUmcclean/plsc411/Genome Sequencing...Genome Sequencing . ... Here the Phred scores are overlaid on the chromatogram of a Sanger sequencing output. ... o Directed

Sequencing the Maize Genome Maize Genome Sequencing Consortium rwilson@watson.wustl.edu.

Sequencing the Maize Genome Maize Genome Sequencing Consortium [email protected].

Genome Sequencing and Objectives

Genome Sequencing and Objectives

Genome Sequencing: Harmonia axyridis

Genome Sequencing: Harmonia axyridis

Genome Sequencing Project

Genome Sequencing Project

Genome sequencing of bacteria: sequencing, de novo assembly and

Genome sequencing of bacteria: sequencing, de novo assembly and

Towards your own genome. Designing your Sequencing Run Sequencing strategy Genome size and genome.

Towards your own genome. Designing your Sequencing Run Sequencing strategy Genome size and genome.

Clinical genome sequencing

Clinical genome sequencing

Plant Genome Sequencing

Plant Genome Sequencing

The Beery Family Whole Genome Sequencing Success · 2013. 5. 10. · Zach, Noah, and Alexis Beery 1996 The Personal Journey . INCORRECT DIAGNOSIS OF CEREBRAL PALSY IN 1998 TREATMENT

The Beery Family Whole Genome Sequencing Success · 2013. 5. 10. · Zach, Noah, and Alexis Beery 1996 The Personal Journey . INCORRECT DIAGNOSIS OF CEREBRAL PALSY IN 1998 TREATMENT

Validation of cytology media for whole genome sequencing · Validation of cytology media for whole genome sequencing: ... Validation of cytology media for whole genome sequencing:

Validation of cytology media for whole genome sequencing · Validation of cytology media for whole genome sequencing: ... Validation of cytology media for whole genome sequencing: