Genetic Modifiers of 22q11.2 Deletion Syndrome
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Has 22q11 deletion of 3 megabases (Mb)
Locations
United States
New York
Albert Einstein College of Medicine
RECRUITING
New York
Contact Information
Primary
Bernice E. Morrow, PhD
bernice.morrow@einsteinmed.edu
914-329-4653
Time Frame
Start Date: 2016-07
Estimated Completion Date: 2029-06
Participants
Target number of participants: 1000
Related Therapeutic Areas
Sponsors
Leads: Albert Einstein College of Medicine
Collaborators: Children's Hospital of Philadelphia, Cardiff University, National Heart, Lung, and Blood Institute (NHLBI), University of Geneva, Switzerland, The Coriell Institute, Universidad del Desarrollo, University of Toronto, Centre for Addiction and Mental Health (CAMH), Tel Aviv University, Bambino Gesù Children's Hospital IRCCS, Maastricht University, National Institute on Aging (NIA), University of California, Los Angeles, KU Leuven