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

GardalandResort

To round off the weekend, families will have the opportunity to visit the beautiful Gardaland Resort and Theme Park on Sunday, July 24th. Travel by coach with other families and speakers in attendance from Hotel Aquaviva del Garda to the Gardaland Resort, gain FREE entry and return to the hotel after a wonderful day out. Please note that only a limited number of seats on the coach are available which will be allocated on a first come first served basis.

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