International 22q11.2 Family Meeting Program
July 22 – 23, 2016 – Conference
July 24, 2016 – Family Fun Day
Sirmione, Italy
Day 1 – July 22nd
11:00 AM Registration Opens
12:00 PM Lunch with Professional Meeting Attendees
1:00 PM An International Welcome to Sirmione
- Bruno Marino
La Sapienza University Policlinico Umberto I Rome
22q11.2 Society
Rome, Italy
- Giulietta Angelelli Cafiero
AIDEL22
Rome, Italy
- Peter Scambler
Institute of Child Health
University College London
22q11.2 Society
London, United Kingdom
- Julie and Paul Wootton
Max Appeal
Stourbridge, UK
- Sheila Kambin
The International 22q11.2 Foundation, Inc.
Matawan, NJ
- Marguerite – Hotel Sirmione
A Brief History of Sirmione
Sirmione, Italy
Session I
1:30 PM What Do We Know About 22q11.2DS?
- Donna McDonald-McGinn
From DiGeorge Syndrome to 22q
The Children’s Hospital of Philadelphia
Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
- Francesca Grati
Frequency of 22q11.2 Deletion and Duplication Syndromes and Non-Invasive Prenatal Screening
Advanced Biomedical Assays, S.p.A.
University of Milan
Milan, Italy
- Maria Cristina Digilio
Reproductive Counseling and Newborn Screening
Ospedale Pediatrico Bambino Gesu
Rome, Italy
2:30 PM Q&A
2:45 PM What Are the Most Common Medical Problems Associated with 22q11.2DS?
- Bruno Marino
The Heart
La Sapienza University Policlinico Umberto I Rome
Rome, Italy
- Caterina Cancrini
Infections, Autoimmune Disease, Calcium and Thyroid
Ospedale Bambino Gesù
Tor Vergata University
Rome, Italy
- Greet Hens
Ear, Nose and Throat
University of Leuven
University Hospital Gasthuisberg
Leuven, Belgium
- Maria Mascarenhas
Feeding and Gastrointestinal Tract: What is the Connection?
The Children’s Hospital of Philadelphia
Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
3:45 PM Q&A
4:00 PM Afternoon Tea
Session II
4:30 PM What Can We Learn From Basic Science Research?
- Bernice Morrow
Important Genes – Report from the International 22q11.2DS Modifier Consortium
Albert Einstein College of Medicine
New York, New York, USA
- Peter Scambler
Heart Development
Institute of Child Health
University College London
London, United Kingdom
- Antonio Baldini, MD
Correcting Birth Defects Prenatally
Institute of Genetics and Biophysics
National Research Council
University Federico II
Naples, Italy
- Elizabeth Lindsay Illingworth, PhD
Understanding the Brain
Institute of Genetics and Biophysics
National Research Council
Naples, Italy
5:45 PM Q&A
6:00 PM Family Voices
6:30 PM Adjourn
8:00 PM Dinner – Winter Garden
Day 2 – July 23rd
7:00 AM Registration Open
Session III
9:00 AM What Do We Know About the Brain and Behavior in Childhood and Adolescence?
- Ann Swillen
Developmental Paths
University of Leuven
University Hospital Gasthuisberg
Leuven, Belgium
· Jacob Vortsman
Behavior
University Medical Center Utrecht
Utrecht, The Netherlands
10:00 AM Q&A
10:15 AM How Do We Approach Times of Transition?
- Marta Unolt
Healthcare
La Sapienza University Policlinico Umberto I Rome
Rome, Italy
- Ed Moss
Education and Vocations
Malamut & Moss, PC.
Philadelphia, PA, USA
10:45 AM Q&A
11:00 AM Coffee Break
Session IV
11:30 AM Family Voices
11:45 AM What Do We Know About Brain and Behavior in Adults?
- Anne Bassett
Moving into Adulthood
Center for Addiction and Mental Health
University of Toronto
Toronto, Ontario, Canada
- Therese van Amelsvoort
Treatment
Maastricht University
Maastricht, The Netherlands
12:45PM Q&A
1:00 PM Lunch
Session V
2:00 PM What Are New Ways to Understand and Potentially Alter Long Term Outcome?
- Kathleen Sullivan
Environmental Factors
The Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
- Hakon Hakonarson
Personalized Medicine
The Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
- Raquel Gur
Report from the International 22q11.2DS Brain and Behavior Consortium
The Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
3:00 PM Q&A
Session VI
3:15 PM How Can We Address Age Specific Questions?
Breakout Sessions:
- 0-10 years
o Donna McDonald-McGinn
o Kathleen Sullivan
o Ann Swillen
o Jacob Vorstman
- 11-17 years
o Maria Cristina Digilio
o Hakon Hakonarson
o Ed Moss
o Solveig Oskarsdottir
o Raquel Gur
- 18+
o Therese van Amelsvoort
o Anne Bassett
o Sixto Garcia-Minaur
o Marta Unolt
4:15 PM Afternoon Tea
Session VII
4:45 PM How Can we Move Forward Together?
- Solveig Oskarsdottir
The Importance of Having a Medical Manager
The Queen Silvia Children’s Hospital
Göteborg, Sweden
- Sixto Garcia-Minaur
The Need for an International Registry
University Hospital La Paz
Madrid, Spain
- Sheila Kambin, Maria Kamper, Anne Lawlor, Maria Silvia Riccio, Julie Wootton
Working Together Works!
22q at the Zoo – Worldwide Awareness Day & 22k for 22q!
The International 22q11.2 Foundation, Inc.; VCFS-22q11.2 Australia
22q Ireland; AIDel22; Max Appeal
Rome, Italy; Matawan, NJ, USA; Sydney, Australia; Dublin, Ireland; Stourbridge, England
5:15 PM Q&A
Session VIII
5:30 PM Family Voices – Report From:
- Adults with 22q11.2DS
- Children with 22q11.2DS
- Parents
- Siblings
6:00 PM Q&A
6:15 PM Wrapping it Up
- Sheila Kambin
Dear Future Parents
The International 22q11.2 Foundation, Inc.
Matawan, NJ, USA
- Donna McDonald-McGinn
Future Meetings
La Sapienza University of Rome and Lorillard Spencer Cenci Foundation
Rome, Italy
The Children’s Hospital of Philadelphia
Perelman School of Medicine of the University of Pennsylvania
Philadelphia, PA, USA
- Giulietta Angelelli Cafiero
Grazie e arrivederci
AIDEL22
Rome, Italy
6:30 PM Adjourn
Day 3 – July 24th
Family Fun Day – Bus Trip to Gardaland +/- Aquaria
Separate registration required for bus transportation
Free park entry until supply runs out
