DB-TIP 2015 Conference Materials - Day 2

“The DeafBlind Community:Communication, Trends &

Techniques”

January 24 & 25, 2015First-Ever Online InterNational

DeafBlind Conference

DAY 2 PRESENTATION MATERIALS

PRESENTATION #1

Pro-Tactile: The DeafBlind Way

aj granda and Jelica Nuccio

“The DeafBlind Community: Communication, Trends & Techniques”First-Ever National Online DeafBlind Conference

January 24-25, 2015Hosted by DB-TIP

Pro-Tactile-Cultural definition:

DeafBlind vs. deafblindness

-Brief history

‘Pro-tactile’ is: –a philosophy, –an attitude, and –a method

It should not be reduced to Haptics (relating to the sense of touch) although it is very much about touch. Haptics is a technique like using a cane or learning braille. Pro-Tactile is a social movement, with a philosophy that guides practices, but does not define them.

P is for PhilosophyA is for AttitudeM is for Method

How philosophy and attitude influence the importance of

method?

• ‘Pro-Tactile’ is the socio-cultural philosophy currently shaping all deafblind practices: linguistics, interpersonal, and politics.

• DB Community has contributed to this philosophy and method in close collaboration with aj granda, Terra Edwards and Jelica Nuccio.

AutonomyThe philosophy of ‘Pro-Tactile’ is centered in the DB experience but it is also about the autonomy of the DB person to: • take the initiative,• think for themselves,• seek out information, and• do tasks on their own rather than passively

receiving information second-hand at the discretion of others.

Attitude is all about respect.

Attitude is having healthy boundaries.

Method• 1. Backchanneling (BC)• 2. Back Backchanneling (BBC)• 3. TASL a. classifiers b. maps c. size/pattern d. discourse of touch

Back-Channeling• ‘Back-channeling’ is the linguistic term

for the response we give to the speaker as we listen. In English, it’s the “oh,” “umm,” “sheesh” to show our response.

• In ASL it is all the facial expressions and head nods as well as the signs “[Y-hand-nod]” and “awful”.

Back-Channeling• Back-channeling can be verbal, or non-

verbal, auditory, visual or tactual.• Back-channel signals indicate you are

paying attention and listening.

• They indicate your response or reaction (including feelings) to what is being said.

Back-BackChanneling• Back- backchanneling is what the listener

gives while listening.• Feedback might come as verbal reporting

of the responses of others.• For example, an SSP might inform the DB

person that the clerk is nodding.

BBC has four groups of information:

1. Setting2. Emotions/tone3. Action4. Internal exchange

TASL: Tactile ASL

• TASL is a new language that is scaffolded on, but distinct from VASL (visual ASL).

• Since the beginning of the pro-tactile movement in 2007, TASL has been diverging from VASL, becoming its own distinct language.

• Current research shows that new phonological, semantic, and deictic stems are emerging in TASL.

TASLa. Classifiersb. Mapsc. Size/patternd. Discourse of touch

1. Starting point to ending point 2. Procedural 3. Tactile Imagery vs. Visual

TASL Classifiers• aj granda, Terra Edwards and Jelica

Nuccio have theorized and played with ASL to modify the signs and their execution to make them clear tactually.

• Instead of using the signer’s body to show relationships, the signer uses the listener’s body (the body of the DB person).

-Cat sitting in a tree

-Laptop

Two TASL classifier examples:

Different rules for space

•Use tactile space •Not air space

Maps and Patterns• Arm, leg and back as space

• Always use contact space, not air space for description and placement

Discourse of Touch

• Start point to end point• Procedural• Tactile Imagery vs Visual Imagery

Conclusion• Pro-Tactile is the socio-cultural

philosophy currently shaping all deafblind practices: linguistics, interpersonal, and politics.

• Back-channeling and TASL are important

• TASL is a new language

Thank you for joining ourDeafBlind world!

aj granda: [email protected] Nuccio: [email protected]

[email protected]

PRESENTATION #2

Understanding Our Community:Usher Syndrome Research

Krista Vasi, MPAExecutive Director, Usher Syndrome Coalition

“The DeafBlind Community: Communication, Trends & Techniques”First-Ever International Online DeafBlind Conference


• Raising awareness • Accelerating research • Providing information and support to individuals

and families affected by Usher syndrome• Bridging the gap between researchers and families• International Symposium on Usher Syndrome

– Harvard Medical School, July 2014

Objectives• What is Usher Syndrome?• The steps to treatment• Where are we now?• Where do we need to go?• Closing remarks

What is Usher Syndrome?• Most common cause of combined deafness and

blindness• Causes hearing loss and progressive vision loss

from retinitis pigmentosa (RP), balance issues• 30,000-50,000 people in the United States,

400,000 worldwide• Clinically and genetically heterogeneous• Three clinical USH types: Type 1, Type 2 and Type 3

– 12 genetic subtypes

A Century of Usher Syndrome

• Charles Usher: British ophthalmologist, did first definitive study in 1914

• Dr. William Kimberling: First researcher committed to studying Usher syndrome

Bill Kimberling’s 7 Steps to Treatment for an Inherited Disease

1. Find the disease gene(s)2. Correlate genotypes and phenotypes3. Find or develop animal models4. Elucidate the disease mechanism5. Find or develop an effective treatment in the

animal model6. Screen the human population to identify people

who might benefit7. Test the treatment in these people

From the Petri Dish to You

1. Basic research– Understanding the fundamental aspects of a disease– Finding genes, genotype/phenotype, disease

mechanism

2. Translational research– Develop effective treatment in an animal model

3. Clinical Research– Clinical Trials

4. Treatment and Follow-up

Research ContinuumBasic Translational Trials Treatments

I II III IV

• The line between basic and translational research is blurry• Research and trials take years• Four phases

– Phase I: Safety in small group– Phase II: Efficacy in small group– Phase III: Efficacy in large group– Phase IV: Monitor long term clinical usage for side effects

• Only 1 in 12 human trials results in a clinical treatment

1. Find the disease gene(s)Usher Type/Locus Gene Protein Frequency*USH1B MYO7A Myosin VIIA 53-63%

USH1C USH1C Harmonin 1-15%

USH1D CDH23 Cadherin 23 7-20%

USH1F PCDH15 Protocadherin 15 7-12%

USH1G USH1G SANS Rare (0-4%)

USH1J CIB2 Calcium and Integrin-binding Rare

USH2A USH2A Usherin 57-79%

USH2C GPR98 VLGR1 6.6-19%

USH2D DFNB31 Whirlin 0-9.5%

USH2 Modifier PDZD7

USH3A USH3A Clarin-1

*Usher type 1 figures: Bonnet et al (2011), Roux et al (2011), Stabej et al (2012) Usher type 2 figures: Bonnet et al (2011), Le Quesne Stabej et al (2012), Garcia-Garcia et al (2013)

2. Correlate genotypes and phenotypes

• Genotype: Genetic cause of the disease• Phenotype: How the disease presents itself• Hypothesis: specific mutations would behave the

same– Research shows this hypothesis is wrong.

• Good news: – Rate of vision loss varies for people with the same genotype

• Bad news: – We don’t know the normal progression of the disease

3. Find or develop animal models

Usher Type/Locus Gene | Protein Animal Model*USH1B MYO7A | Myosin VIIA Mouse (shaker 1); Zebrafish

(Mariner)USH1C USH1C | Harmonin Mouse (deaf circler); ZebrafishUSH1D CDH23 | Cadherin 23 Mouse (waltzer); Zebrafish (Sputnik)USH1F PCDH15 | Protocadherin 15 Mouse (Ames waltzer); Zebrafish

(Orbiter)USH1G USH1G | SANS Mouse (Jackson shaker)USH2A USH2A | Usherin MouseUSH2C GPR98 | VLGR1 MouseUSH2D DFNB31 | Whirlin Mouse (whirler)USH3A USH3A | Clarin-1 Mouse

*Sources: NIH, Nicolson et al (1998), Seiler & Nicolson (1999), Sollner et al (2004), Johnson et al (2005), Seiler et al (2005), Williams (2008), Phillips et al (2011)

4. Elucidate the disease mechanism

• Understanding the Usher protein interactome• Christine Petit: “Gathering basic knowledge towards

the development of therapeutic approaches”• Uwe Wolfrum: “Decoding of Usher Syndrome protein

networks reveals insights in the molecular basis of the disease”

• Monte Westerfield: “Defective protein complex assembly produces ER stress that causes cell death in Usher syndrome”

5. Find or develop an effective treatment in the animal model

• Drug-based therapy• Gene therapy• Optogenetics• Prosthetics• Stem cell therapy

Drug Therapy

• Antisense Oligonucleotides (ASOs)– USH1C– Lentz and Hastings (LSU and Chicago Medical School)

• Ciliary Neurotrophic Factor (CNTF)– USH II/USH III/RP– Duncan (UCSF), Neurotech

• Translational read-through inducing drugs (TRIDS)– USH1C, USH1F, USH2A, USH2C, USH3A– Wolfrum & Nagel-Wolfrum, Mainz, Germany

Gene Therapy

• UshStat clinical trial, USH1B– First human study of gene therapy to treat Usher– Phase I/IIa Dose Escalation Safety Study– Weleber & Pennesi, Oregon; Sahel, Paris

• USH1C, USH2A – Pierce & Vandenberghe (MEEI)• USH3A – Vision phenotype, Hauswirth Lab (UF)• USH3A – Hearing model, Alagramam (Case),

hearing rescue, Lustig (Columbia)

Optogenetics

• Gene therapy based approach• Bypass the lost photoreceptors by enabling other

retinal cells (i.e. ganglion cells) to sense light• Channelrhodopsins in green algae

– RetroSense, pre-clinical, RP– GenSight Biologics, USH1A (Sahel, Bennett, Cepko,

Vandenberghe, Picaud)– Mohanty (University of Texas), RP– Flannery & Isacoff, (UC Berkeley), RP

Prosthetics

• Cochlear Implant– Well-established

• Retinal Implant– Argus II, 60 electrodes, Approved by FDA, Europe

regulatory, Health Canada– More than 100 individuals implanted worldwide

• Combined cochlear/vestibular implant– Phillips and Rubinstein, University of Washington

• Vestibular implant– Della Santina, Johns Hopkins School of Medicine

Stem Cell Therapy

• Stone & Tucker, (University of Iowa)– Patient-derived induced pluripotent stem cells

(iPSCs)– USH2A

• Klassen (UC Irvine)– Human retinal progenitor cells (hRPCs), RP

• Young (Harvard Medical School), ReNeuron (UK)– Human retinal progenitor cells (hRPCs), RP

State of Usher Syndrome Research

Basic Translational Trials Treatments

Notes

Stem Cells (Vision) Stargardts and AMD

Stem Cells (Hearing)

Gene Therapies Usher 1b

Drug Therapies

Ocular Implants

Vestibular Implants Usher?

Optogenetics

The Final Steps to Treatment

6. Screen the human population to identify people who might benefit– No standard protocol for genetic testing

7. Test the treatment in these people– We are not in touch with enough people to

sufficiently identify clinical trial candidates– 400,000 people with Usher in the world– ~3,000 in close contact with researchers

How Are We Doing?• Most advancements in understanding Usher in last 20

years.• The Good

– Find the disease gene: eleven genes identified, fifteen possible genes

– Elucidate the disease mechanism: Usher protein interactome

• The Not So Good– Find or develop animal models: Mice are not clearly

demonstrating vision phenotype, no large animal model– Find or develop an effective treatment in the animal model:

Lack of good models means less certainty

The Missing Pieces

• Correlate genotype with phenotype: The more we learn, the less we know– Classic Usher typing is not accurate

• Committee developing roadmap to guide research

• Greatest barrier to treatment development: We are not in touch with enough families– Clinical trials will be suspended, abandoned, or will

fail to launch without enough candidates

Families are Critical to Research Success

• Source of natural history information• Source of genetic information• Pool of candidates for clinical trials• Source of funding and advocacy• Source of awareness which impacts funding

and motivates researchers

Closing Remarks

• Search for viable treatments is moving by leaps and bounds

• Families ARE the cure• International Symposium on Usher Syndrome

– Research community agrees– We need to identify everyone with Usher

• Support for families is critical to finding a cure

7th Annual Usher Syndrome

Family Conference

Saturday, July 11, 2015

New Orleans, Louisiana

Thank YouKrista Vasi

[email protected] Syndrome Coalition: www.Usher-Syndrome.org

Usher Syndrome Registry: www.Usher-Registry.org

Understanding Our Community:

CHARGE Syndrome

Sheri Stanger, M.A., Ed.M.Director of Outreach

CHARGE Syndrome Foundation



Objectives• Increase knowledge of the complexities

of CHARGE syndrome• Increase understanding of the unique

attributes and challenges presented by CHARGE syndrome

• Increase knowledge of the Foundation and its resources

Option to insert picture with a caption here…

A Better World

For PeopleWith

CHARGE Syndrome

What is CHARGE syndrome?• CHARGE syndrome is a complex genetic condition seen in

about 1 in 10,000 births• CHARGE is an acronym coined in 1981 from some of the

main features seen in many children • Clinical diagnosis by major and minor characteristics is still

the most common and least expensive determination of this syndrome

• CHD7 Gene (a regulatory gene on Chromosome 8) was discovered in the Netherlands in 2004

• Confirmed that CHARGE is a genetic condition• CHARGE is the leading cause of congenital deaf-blindness

in the USA

Medical Features

• Heart Defects• Cleft lip and/or palate• Choanal Atresia• Facial Palsy• Swallowing Problems• Breathing Problems• TE Fistula or Esophageal Atresia

Young boy with bilateral cleft lip and palate

Clefting

Two friends signing “I Love You”Facial Palsy and Communication

Sensory Features

• Vision Loss• Hearing Loss• Balance Problems• Behavior Issues• Sleep Disturbance

Nothing Stops Me!Vision Loss

Young boy with cochlear implant

Hearing Loss

Young boy seated in a “W” position

Proprioception

One of the most misunderstood aspects of CHARGE syndrome

Behavioral Challenges

• Strong Family Connections• Strong Foundation• Power in Numbers• Outreach • Collaborations• Research• Education

Complex Needs

Resources Website – www.chargesyndrome.orgParent to Parent Contact Lists Provider DatabaseQuarterly Newsletter – CHARGE AccountsE-newsLinksWebinarsPast Conference Papers

Resources • New Parent Folder• Professional Packet • Management Manual for Parents in English and

Spanish• Brochures• Medical Bibliography• Upcoming Events • Awareness Theme Months

Closing Remarks

Complex Needs Require Strong Family Connections,

Strong Professional Connections and a Strong

Foundation

Young Adults with CHARGEVariety is the spice of life!

Contact Information

Sheri Stanger, M.A., Ed.M.Director of Outreach

1-855-5CHARGE (toll free)[email protected]

PRESENTATION #3

Role Comparisons Between an Interpreter, Intervener and Support Service Provider

Maricar Marquez M.S.



Objectives• 1. Participants will define the roles of a sign language

interpreter, intervener, and Support Service Provider (SSP).

• 2. Participants will identify the responsibilities of the interpreter, intervener, and SSP when working DeafBlind individuals.

• 3. Participants will identify the types of situations the interpreter, intervener, and SSP can participate when working with DeafBlind individuals.

• 4. Participants will list general training requirements for people who wish to become an interpreter, intervener or SSP.

Sign Language Interpreter

• A sign language interpreter is a person who interprets a thought or expression from a source language into an expression with a comparable meaning in a target language.

Intervener

• An intervener serves as a liaison for a child or young adult who is deaf-blind and their environment while participating in the learning process.

Support Service Provider (SSP)

• An SSP is a specially trained individual who enables people who are DeafBlind to access their environment and make informed decisions by providing them with visual and environmental information, human guide services, and communication facilitation.

The Role of an Interpreter Working with DeafBlind Individuals

• Interprets between languages (ASL & English) or within one language (Pidgin Signed English & spoken English)

• Provides visual and environmental information• Acclimates the DeafBlind person to the

environment • Acts as a human guide• Works in educational, legal, medical, theatrical,

and vocational settings

The Role of an Intervener

• Facilities communication• Acts as a human guide• Provides visual and environmental

information• Works alongside the teacher and assists

in the learning process• Works in an educational setting or home

The Role of an SSP

• Facilitates communication • Provides visual and environmental

information • Acts as a human guide• Gives an opinion when asked• Works in community interactions as

well as professional settings

Training Requirements

• Interpreter training programs–Located within each state

• Intervener programs–Two online programs, must be currently

working with a DeafBlind student• SSP training

–Volunteer work and community interactions

Resources & Citations

• Yvette Brown, Lexington School for the Deaf, Jackson Heights, NY

• Maricar Marquez, Helen Keller National Center, Sands Point, NY

• Susanne Morgan Morrow, New York Deaf-Blind Collaborative, Flushing, NY

• Registry of Interpreters for the Deaf, www.rid.org

Thank you!Maricar Marquez M.S.

[email protected]

Role Comparisons Between an Interpreter, Intervener and

Support Service Provider

Yvette Brown



• Work for Board of Education at Lexington School for the Deaf.

• Student is 6 years old, 1st grade • CHARGE Syndrome, profoundly deaf

with cochlear implant, no vision in one eye.

Educational Intervener

• Materials/Devices: – iPad connected to smart board– iPhone for zooming in to see the teacher

for instruction in the front of the classroom– small dry erase board for demonstration.

• Communication: – Close up sign language– Tactile Sign Language.

One-on-One Support

Strengths: academics

Challenges: social engagement

iPhone for information at a distance

iPad connects to smart board

Dry Erase Board for Demonstration

Communication in Action: Teacher + Intervener + Student

Community Intervention • Community intervener as Home Health

Aide/Home Rehabilitation Services• Deaf-blind 10 year old girl• Cortical Vision Impairment, Auditory Processing

Disorder, Cerebral Palsy, with no vision and moderate hearing loss

• Materials: Calendar system and tactile symbols.• Communication: Tactile Sign Language and

Verbal communication.

Strengths: academics

Challenges: social engagement

Calendar System

Tactile Symbols

Tactile Sign Language

Thank You!Yvette Brown

[email protected]

Do not share or duplicate materials without

permission of DB-TIP

DB-TIP 2015 Conference Materials - Day 2

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