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

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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”

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9:30am-9:45am             Katie Grand, MS, CGC
                                       Genetic Counselor
                                       Cedars-Sinai Hospital, Los Angeles, California
                                       “Genetic Counseling Concerns for SkDeaS”

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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”

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10:15am-10:30am         Break

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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”

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11:00am-11:20am         Rachel Reyes, PhD
                                       Postdoctoral Researcher
                                       Children’s Hospital Los Angeles, California
                                       “iPS Cell Models to Understand the Biology of WDR26”

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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”

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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

 

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