7th ALSTRÖM SYNDROME INTERNATIONAL FAMILY

CONFERENCE, RESEARCH CLINIC, AND SCIENTIFIC SYMPOSIUM

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 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!!) Marshfield - 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, 4th Floor Lounge area)

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

9.00 - 11.00 am ASI Department Heads meeting (Halifax)

2.00 - 3.00 pm Pre-Con meeting with Radisson Managers

4.00 - 10.00 pm Early registration (Lobby)

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5.00 -7.00 pm Informal Reception Physicians and Research Scientists (Harbor Grille Pub)

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)

Wednesday, May 8

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THURSDAY, MAY 9 6.00 - 8.30 am Research Clinic Activities

(402, 403, 4th Floor Lounge area)

6.30 - 11.00 am Breakfast on own (Harbor Grille)

8.00 - 9.00 am ASI Department Heads meeting (Halifax)

SCIENTIFIC SYMPOSIUM ~ BENCH TO BEDSIDE Amphitheater

FAMILIES Registratio

n o

pen

9.00 - 9.30 am SCIENTIFIC SYMPOSIUM SESSION I Welcome and Overview of Patient Registry and Clinical Database Jan D. Marshall, Chair Scientific Advisory Board The Jackson Laboratory

9.30 -10.00 am SCIENTIFIC SYMPOSIUM SESSION II Endosome Recycling Studies Provide Clues to ALMS1 Function Jürgen K. Naggert, PhD The Jackson Laboratory

10.00 - 10.15 am COFFEE BREAK (Amphitheater Hallway)

10.15 - 10.45 am SCIENTIFIC SYMPOSIUM SESSION III Alström Mouse Models: From Genetics to Therapy Gayle B. Collin The Jackson Laboratory

10.45 - 11.15 am SCIENTIFIC SYMPOSIUM SESSION IV Review of Post Mortem Pathology From 14 Patients With Alström Syndrome, Ranging in Age From 13 to 42 Years Old Roderick T. Bronson, DVM Harvard Medical School

11.30 - 1.00 pm Scientist’s Luncheon (Plympton)

Families Lunch on own

Thursday, May 9

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1:00 - 1.30 pm SCIENTIFIC SYMPOSIUM SESSION V Myocardial Fibrosis, Diastolic Function and Identifying Cardiac Disease Richard Steeds, MD Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham, UK

Registratio

n fo

r late-co

mers

1.30 - 2.00 pm SCIENTIFIC SYMPOSIUM SESSION VI Blind at Age 20 and Profound Deafness at Age 30: Early Cochlear Implantation? Claes Möller, MD, PhD Örebro University, Örebro, Sweden

2.00 - 2.30 pm SCIENTIFIC SYMPOSIUM SESSION VII Pulmonary Dysfunction in Alström Syndrome: A Ciliopathy? Dimas Mateos-Corral, MD IWK Children’s Medical Center, Halifax, NS Canada

2.30 – 2.45 pm COFFEE BREAK (Amphitheater Hallway)

2.45 – 3.15 pm SCIENTIFIC SYMPOSIUM SESSION VIII TBD

3.15 - 3.45 pm SCIENTIFIC SYMPOSIUM SESSION IX Metabolic Alterations in Alms1(GT/GT)Ei, A Mouse Model for Obesity and Insulin Resistance Francesca Favaretto, PhD University of Padua, Padua Italy

Snapshot of What to Expect for First Time Families Gina Denbow/Sandra Hubbard-LeBlanc (Halifax)

3.45 - 4.15 pm SCIENTIFIC SYMPOSIUM SESSION X Neuroimaging in Patients with Alström Syndrome Valentina Citton, MD I.R.C.C.S. San Camillo Hospital, Lido di Venezia, Italy

4.15 – 4.45 pm SCIENTIFIC SYMPOSIUM SESSION XI Probing the Genes for Hyperphagia in Obesity-related Disorders Merlin Butler, MD, PhD Kansas University Medical Center, Kansas City, MO

4.45 - 5.30 pm Discussion and Unanswered Questions

6.00 - 9.00 pm Scientists’ Cocktail Reception and Dinner (Patrizia’s Italy Trattoria)

Families – Free time Dinner on own

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

Thursday, May 9

Thursday, May 9

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FRIDAY, MAY 10 6.00 - 8.00 am Research Clinic Activities

(4th Floor Lounge, 402, 403)

6.30 - 8.30 am Breakfast Buffet (Mayflower)

Registratio

n fo

r late-co

mers

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) Depart for Boston (Reception Area Back Entrance)

9.00 - 9.30 am Invocation Rick Herring 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 pm PLENARY SESSION III Hearing in Alström Syndrome: Prognosis, Realities, and Possibilities Claes Möller, MD, PhD Örebro University, Örebro Sweden (Ballroom)

Friday, May 10

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12.00 - 1.30 pm

PLATED LUNCH and ANNOUNCEMENTS (Mayflower)

1.30 - 2.00 pm PLENARY SESSION IV Adolescent and Adult Cardiomyopthy: Prognosis, Realities, and Possibilities Cathy Carey, MD Torbay Hospital, Torquay, UK (Ballroom)

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

3.00 - 3.15 pm COFFEE BREAK (Reception Area)

3.15 - 3.30 pm PLENARY SESSION VII Coping with Alström Syndrome - A Parent’s Journey Sandra Hubbard-LeBlanc, Alström Syndrome International (Ballroom)

Friday, May 10

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CONCURRENT SESSIONS

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 Kidneys: Prognosis, Realities, and

Possibilities Sonia Mastrapasqua, MD

Hospital Provincial Neuquén, Argentina

(Plympton)

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

Urology: Prognosis, Realities, and Possibilities

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

Friday, May 10

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SATURDAY, MAY 11

6.00 - 8.00 am Research Clinic Activities (4th Floor Lounge, 402, 403)

6.30 - 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/Plymouth)

FOR ADULT PATIENTS

A-TEAM ONLY (Duxbury)

SCIENTIFIC SYMPOSIUM ~ BEDSIDE TO BENCH

Clinical studies (Amphitheater)

9.00 - 9.30 am SESSION XIV Education Issues Panel Discussion

Moderator: Gina Denbow Panel:

Janice Herring 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

SCIENTIFIC SYMPOSIUM SESSION XII Cystic Kidney Disease in ALMS- Unusual? Sonia Mastrapasqua, MD, PhD Hospital Provincial Neuquén, Neuquén, Argentina

SILENT A

UC

TION

(Re

ceptio

n area)

9.30 - 10.00 am SCIENTIFIC SYMPOSIUM SESSION XIII Hyperphagia, Leptin, and Brain-derived Neurotrophic Factor in Subjects with Alström Syndrome and BMI-Z Matched Controls Joan C. Han, MD Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD

10.00 - 10.30 am SCIENTIFIC SYMPOSIUM SESSION XIV Evidence Base for Treatment Strategies in Alström Syndrome

Richard B. Paisey, MD Torbay Hospital, Torquay, UK

Saturday, May 11

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10.30 - 11.00 am Education Panel Discussion (Continued) (Kingston/Plymouth)

A Team The Quest for Independence (Duxbury)

SCIENTIFIC SYMPOSIUM SESSION XV Congestive Heart Failure and Cardiac Phenotypes in Adult Patients Cathy Carey, MD Torbay Hospital, Torquay, UK

11.00 - 11.15 am COFFEE BREAK (Ballroom Hallway)

11.30 - 12.30 pm PLENARY SESSION XVI “Ask the A-Team” A chance for candid conversation between parents, adults with Alström Syndrome, treating physicians and researchers Moderator: Shannon Caldwell Facilitators: Tony Young, Robin Marshall, Phyllis Aschenbrenner (Kingston/Duxbury)

12.30 - 2.00 pm A-TEAM LUNCHEON Local Activities in Plymouth (East Bay Grille)

PLATED LUNCH Parents/Physicians/Research Scientists (Mayflower)

2.00 - 2.45 pm PLENARY SESSION XVII Endocrine and Growth Issues in Alström Syndrome Pietro Maffei, MD, PhD Padua University, Padua, Italy (Kingston/Duxbury)

2.45 - 4.15 pm PLENARY SESSION XXVIII Research Updates (Kingston/Duxbury)

Title TBD - Jürgen Naggert, PhD

Genetics of Obesity and Obesity-related Disorders - Merlin Butler, MD

Clinical Studies at the National Institutes of Health - Meral Gunay-Aygun, MD

Endocrinological Studies at the National Institutes of Health - Joan Han, MD

4.15 - 4.30 pm COFFEE BREAK (Mayflower)

Saturday, May 11

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CONCURRENT SESSIONS

4.30 - 5.15 pm

SESSION XX Brain Involvement in Alström

Syndrome Renzo Manara, MD, PhD

University of Padua, Padua Italy

(Amphitheater)

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

Possibilities Andrew Warren, MD

IWK Medical Centre, Halifax, NS

(Carver)

SESSION XXII Genetic Diagnosis and Implications for the

Family. Sebastian Beck, MD, PhD Blauen Haus,Kreuzlingen

Switzerland

(Plympton)

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, 4th floor lounge)

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 (younger children and siblings) (Reception Area-Back Entrance)

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

Scientific Poster Session (Ballroom Hallway)

Curbside Consultations Physicians/ families (Reception area)

Sibling Issues >13 y Co-chairs: Kirstin Collier, Cassie Johnston (Amphitheater)

Chelsea’s Special Olympics (Nelson Park)

Session I (Kingston)

Session II (Plymouth)

Session III (Duxbury)

(Ballroom Hallway)

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)

5.0 - 8.00 pm Plimoth Plantation *Tour and Enjoy * Cocktail Hour - Cash bar * Goats on Parade

SPECIAL MOTHERS DAY THANKSGIVING FEAST (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 !!!