Skraban-Deardorff Syndrome
Family Meeting 2022
Thursday, July 28th, 2022
12:00pm-5:00pm Clinic Visits
Friday, July 29th, 2022
8:00am-5:00pm Clinic Visits
6:30pm Welcome Dinner
Buerger Center Room 1212-1214
Saturday, July 30th, 2022
9:00am-11:30am Scientific/Clinical Talks
Buerger Center Room 1212-1214
9:00am Welcome
9:10am-9:30am Cara Skraban, MD
Assistant Professor, Department of Pediatrics
Children’s Hospital of Philadelphia, Pennsylvania
“Current Clinical Understanding of Skraban-Deardorff Syndrome”
9:30am-9:45am Katie Grand, MS, CGC
Genetic Counselor
Cedars-Sinai Hospital, Los Angeles, California
“Genetic Counseling Concerns for SkDeaS”
9:45-10:15am Matt Deardorff, MD, PhD
Professor, Department of Pathology and Pediatrics
University of Southern California
“Genetics, Biology and Goals for WDR26-related Intellectual Disability”
10:15am-10:30am Break
10:30am-11:00m Tom Frazier, PhD
Professor, Department of Psychology
John Carroll University, Ohio
“Making Measures that Matter for Genetic Syndromes Associated with Neurodevelopmental Conditions”
11:00am-11:20am Rachel Reyes, PhD
Postdoctoral Researcher
Children’s Hospital Los Angeles, California
“iPS Cell Models to Understand the Biology of WDR26”
11:20-11:40am Yuanquan Song, PhD
Assistant Professor of Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine
“Drosophila Models of WDR26 and Developmental Disorders”
11:40am-12:00pm Jon Wilde, PhD
Director of Discovery Research
Emugen Therapeutics, Cambridge, Massachusetts
“How to Fund Impactful Research: Lessons from Academia and Industry”
12:00pm-1:00pm Lunch
Buerger Center Room 1212-1214
1:00pm-3:00pm Panel Discussions with Parents
Buerger Center Room 1212-1214
1:00pm-1:45pm Topic: Speech, Toileting
1:45pm-2:15pm Break
2:15pm-3:00pm Topic: Seizure concerns, Feeding/sensory, School and cognition
3:00pm-4:00pm SKDEAS Foundation Meeting
Buerger Center Room 1212-1214
Hosted by:
With support from:
Introducing:
