7th ALSTRÖM SYNDROME INTERNATIONAL FAMILY CONFERENCE

AND RESEARCH CLINIC

Plymouth, Massachusetts, USA

MAY 8-13, 2013

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ORGANIZING COMMITTEES

SCIENTIFIC SYMPOSIUM FAMILY CONFERENCE Roderick T. Bronson

Gayle B. Collin Pietro Maffei

Jan D. Marshall Richard B. Paisey

Phyllis Aschenbrenner Nevin Bengur

Aaron Cox Tony Jackson Mike Kirby

Robin Marshall Heather Piacentini Barbara Strubell

The following spaces will be available throughout the conference!

Room 302 – Tot Tending (Check for scheduled coverage!) Carver – Quiet Board Games and Crafts for Kids Board Room – Games, Movie, and Activity Room for Kids Room 102 – Hospitality Suite: coffee, snacks, sodas, modest gathering space Pool (SUPERVISION required!!) Manomet - Memory and Reflection Room – A Quiet Space

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WEDNESDAY, May 8 PRE-CONFERENCE ACTIVITIES 6.00 - 8.30 pm Research Clinic Activities

(402, 403, 415, 4th Floor Lounge area, Marshfield)

6.30 - 11.00 am Breakfast on own (Harbor Grille Restaurant)

12.00 - 4.00 pm Early registration (Lobby)

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7.00 - 9.00 pm Dinner on your own (Harbor Grille restaurant and Pub or area restaurants available)

8.30 -11.00 pm A Team, Parents and Professionals Networking and Relaxing Cash Bar (Harbor Grille Pub)

THURSDAY, MAY 9 PRE-CONFERENCE ACTIVITIES 6.00 - 8.30 am Research Clinic Activities

(402, 403, 415, 4th Floor Lounge area, Marshfield)

6.30 - 11.00 am Breakfast on own (Harbor Grille)

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9.00am - 9.30 pm REGISTRATION OPEN

3.15 – 4.15 pm FAMILIES Snapshot of What to Expect for First Time Families Gina Denbow, Sandra Hubbard-LeBlanc (Halifax)

6.00 - 9.00 pm Dinner on own

9.00 - 11.00 pm A Team, Parents, Families, Professionals Relaxing Mayflower, Board Room, Carver, Pool, Hospitality Suite

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FRIDAY, MAY 10 6.00 - 8.00 am Research Clinic Activities

(4th Floor Lounge, 402, 403, 415, Marshfield)

6.15 - 8.30 am Breakfast Buffet (Mayflower)

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7.00 - 8.00 am ASI Department Heads and Activity Leaders Meeting (Halifax)

8.45 - 9.00 am “BOSTON BOUND” A-Team and all Children (Except Tots 3yr and under) Depart for Boston (Reception Area Back Entrance)

9.00 - 9.30 am Greetings , Introductions and Welcome Robin Marshall, Phyllis Aschenbrenner (Ballroom)

9.30 -10.00 am PLENARY SESSION I ASI’s Journey and Reason for Hope Jan D. Marshall The Jackson Laboratory, Bar Harbor, ME (Ballroom)

10.00 - 10.45 am PLENARY SESSION II Gene Therapy, Stem Cells, and Bionic Eyes: Are They Science Fiction? Alex V. Levin, MD Wills Eye Institute, Philadelphia, PA (Ballroom)

10.45 - 11.00 am COFFEE BREAK (Reception Area)

11.00 - 11.45 am PLENARY SESSION III Hearing in Alström Syndrome: Prognosis, Realities, and Possibilities Claes Möller, MD, PhD Örebro University, Örebro Sweden (Ballroom)

12.00 - 1.30 pm

PLATED LUNCH and ANNOUNCEMENTS (Mayflower)

Friday May 10

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1.30 - 2.00 pm PLENARY SESSION IV

Cardiac phenotypes in adult patients

Cathy Carey, MD

Torbay Hospital, Torquay, UK

(Ballroom)

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2.00 - 2.30 pm PLENARY SESSION V Cardiac Transplantation in Alström Syndrome Janet Scheel, MD Johns Hopkins Medical Center, Baltimore, MD

(Ballroom)

2.30 - 3.00 pm PLENARY SESSION VI Respiratory Consequences of Alström Syndrome: Realities and Possibilities Dimas Mateos-Corral, MD IWK Medical Center, Halifax, NS Canada (Ballroom)

3.00 - 3.15 pm COFFEE BREAK (Reception Area)

3.15 – 4.00 pm PLENARY SESSION VII Coping with Alström Syndrome - A Parent’s Journey Sandra Hubbard-LeBlanc Alström Syndrome International

(Ballroom)

Friday, May 10

Friday May 10

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CONCURRENT SESSIONS Amphitheater Carver Plympton

4.00 - 4.45 pm SESSION VIII Early Childhood Developmental Issues in

Alström Syndrome Sarah E. Shea, MD

IWK Medical Centre, Halifax, NS

(Amphitheater)

SESSION IX Evidence Base for Treatment Strategies

in Alström Syndrome Richard B. Paisey, MD

Torbay Hospital, Torquay, UK

(Carver)

SESSION X

Renal Failure: Some Basic Concepts.

What Can Be Done?

Sonia Mastrapasqua, MD

Hospital Provincial Neuquén, Argentina

(Plympton)

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4.45 - 5.30 pm

SESSION XI

The Theory of Mind Perspective: How the Physical Manifestations of ALMS

May Shape Relationships and Interactions with Others Hans-Erik Frölander, PhD Swedish Deaf-Blind Institute

Örebro, Sweden

(Amphitheater)

SESSION XII

Hepatic (Liver) Issues: Prognosis, Realities, and Possibilities

Judy Davis, MD California Digestive Disease Center,

Fresno, CA

(Carver)

SESSION XIII

Bladder Dysfunction: Investigation and Treatment

Seamus MacDermott, MD Torbay Hospital, Torquay, UK

(Plympton)

5.30 - 6.30 pm COCKTAILS Cash Bar (Reception Area)

6.30 - 8.30 pm PLATED DINNER, SPEAKERS, ENTERTAINMENT (Ballroom)

8.30 - 11.00 pm

FREE TIME A Team, Parents, Families, Professionals Relaxing Mayflower, Board Room, Carver, Pool, Hospitality Suite Room 102

Friday May 10

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SATURDAY, MAY 11 6.00 - 8.00 am Research Clinic Activities

(4th Floor Lounge, 402, 403, 415)

6.15 - 8.30 am BREAKFAST BUFFET (Mayflower)

7.00 - 8.00 am ASI Department Heads and Activity Leaders Meeting (Halifax)

8.45 - 9.00 am “PLYMOUTH BOUND” All Children (including Tots) Depart- Exploring Plymouth (Reception Area-Back Entrance)

FOR PARENTS

(Kingston)

FOR ADULT PATIENTS

A-TEAM ONLY (Duxbury)

9.00 - 10.30 am SESSION XIV Education Issues Panel Discussion

Moderator: Gina Denbow Panel:

Debbie Hughes Deborah Gillespie

Sarah Shea

SESSION XV The Quest for Independence Open, Informal Round Table

Chair: Shannon Caldwell, A Team Leader

Facilitators: Hans-Erik Frölander,

Tony Young

SILENT A

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(Re

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10.30 - 10.45 am COFFEE BREAK (Kingston)

10.45 - 11.45 am PLENARY SESSION XVI “Ask the A-Team” A chance for candid conversation between adults with Alström Syndrome, parents, treating physicians and researchers Moderator: Shannon Caldwell Facilitators: Tony Young, Robin Marshall, Phyllis Aschenbrenner (Kingston/Duxbury)

Saturday May 11

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12.00 - 1.30 pm A-TEAM LUNCHEON Local Activities in Plymouth (East Bay Grille)

PLATED LUNCH Parents/Physicians/Research Scientists (Mayflower)

SILENT A

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(Re

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1.30 - 2.15 pm PLENARY SESSION XVII Endocrinological Issues in Alström Syndrome Pietro Maffei, MD, PhD Padua University, Padua, Italy

(Kingston/Duxbury)

2.15 - 2.45 pm PLENARY SESSION XVIII Alström Research at JAX; Where Do We Stand?

Jürgen Naggert, PhD

The Jackson Laboratory, Bar Harbor, ME USA

(Kingston/Duxbury)

2.45 – 3.15 pm PLENARY SESSION XIX Genetics of Obesity and Obesity-related Disorders Merlin Butler, MD, PhD Kansas University Medical Center, Kansas City, KS USA

(Kingston/Duxbury)

3.15 – 3.45 PLENARY SESSION XX Clinical Studies at the National Institutes of Health Meral Gunay-Aygun, MD National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA

(Kingston/Duxbury)

Saturday May 11

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3.45 – 4.15 pm PLENARY SESSION XXI Hormones and Hunger - Understanding a Different Kind of Appetite in Alström Syndrome Joan Han, MD Eunice Kennedy Shriver National Institute of Child Health and Human Development , National Institutes of Health, Bethesda, MD USA (Kingston/Duxbury)

SILENT A

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(Re

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4.15 - 4.30 pm COFFEE BREAK (Mayflower)

CONCURRENT SESSIONS Amphitheater Carver Plympton

4.30 - 5.15 pm

SESSION XXII Brain Involvement in Alström

Syndrome Renzo Manara, MD, PhD

University of Padua, Padua Italy

(Amphitheater)

SESSION XXIII Pediatric Cardiomyopathy in Alström Syndrome: Prognosis, Realities, and

Possibilities Andrew Warren, MD

IWK Medical Centre, Halifax, NS

(Carver)

SESSION XXIV Genetic Diagnosis and Implications for the

Family Sebastian Beck, MD, PhD

Blauen Haus,Kreuzlingen Switzerland

(Plympton)

SILENT A

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TION

(Re

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n area)

5.30 - 6.30 pm COCKTAIL HOUR AND SILENT AUCTION DISPLAYS

GROUP PHOTO

CASH BAR (Reception area)

6.30 - 11.00 pm

BANQUET

Dancing, Entertainment , Cash bar (Grand Ballroom)

9.00 - 11.00 pm Silent Auction Wrap-up Auction closes 9.00 pm

Saturday May 11

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SUNDAY, MAY 12 6.00 - 8.30 am Research Clinic Activities

(402, 403, 415, 4th floor lounge, Marshfield)

7.00 - 8.00 am Department Heads Meeting (Halifax)

6.30 - 8.30 am BREAKFAST BUFFET AND ANNOUNCEMENTS (Mayflower)

9.00 - 9.15 am Children depart for Chelsea’s Special Olympics (Tots, children under 12y) (Reception Area-Back Entrance)

9.00 - 12.00 am Assistive Technology Displays, Presentations, Gizmos and Gadgets, and Interactive

Activities

(Duxbury)

Scientific Poster Session

(Reception area)

Curbside Consultations

Physicians/ families

(Plymouth)

Sibling Issues >13 y Co-chairs: Kirstin Collier, Cassie and Lynn Johnston

(Amphitheater)

Chelsea’s Special Olympics for 12 and

under. Spectators Welcome !

Head Coach: Shelly Marshall

(Nelson Park)

12.00 - 1.30 pm Lunch on your own Shopping/ Free time in Plymouth

ASI Board Meeting Board of Directors Lunch (TBD)

4.30 pm Buses leave Radisson for Plimoth Plantation (Reception Area Back Entrance)

5.00 – 8.00 pm SPECIAL MOTHER’S DAY THANKSGIVING FEAST at PLIMOTH PLANTATION *Tour and Enjoy * Cocktail Hour - Cash bar * Goats on Parade

(Pavilion)

8.00 pm Buses Depart Plimoth Plantation for Radisson

8.30 - 11.00 pm FREE TIME A Team, Parents and Professionals Relaxing

Sunday May 12

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MONDAY, MAY 13 7.00 - 9.00 am Breakfast Buffet

(Mayflower)

9.00 - 10.30 am General Meeting for Families Meeting Your Needs and Those of the Organization (Amphitheater)

10.30 am Check-out and Farewells (Lobby)

SAFE TRAVELS !!!