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2020 David W. Smith Virtual Workshop

  • Overview
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Add to Calendar 2020 David W. Smith Virtual Workshop 9/12/2020 8:00:00 AM 9/12/2020 5:00:00 PM America/New_York For More Details: https://chop.cloud-cme.com/course/courseoverview?EID=1111 Description: We will plan to have 21 trainees present their abstracts during a one day virtual meeting. The meeting we be held through a remote electronic platform. Electronic meeting times on Saturday 9/12/2020 will be from 9 am to 11 am Pacific time (noon to 2 pm Eastern time) and from noon to 2 pm Pacific time (3 pm to 5 pm Eastern time). There will be a one hour break from 11 am to noon Pacific time (2 pm to 3 pm... false MM/DD/YYYY


Date & Location
Saturday, September 12, 2020, 8:00 AM - 5:00 PM

Overview

We will plan to have 21 trainees present their abstracts during a one day virtual meeting. The meeting we be held through a remote electronic platform. Electronic meeting times on Saturday 9/12/2020 will be from 9 am to 11 am Pacific time (noon to 2 pm Eastern time) and from noon to 2 pm Pacific time (3 pm to 5 pm Eastern time). There will be a one hour break from 11 am to noon Pacific time (2 pm to 3 pm Eastern time). The schedule of speakers will be posted soon.

Accreditation
The Children's Hospital of Philadelphia is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education to physicians.

Credits
AMA PRA Category 1 Credits™ (4.00 hours), Non-Physician AMA PRA Category 1 Credits™ Attendance (includes PA, RT, RDMS) (4.00 hours)



Member Information
Role in activity
Nature of Relationship(s) / Name of Ineligible Company(s)
Katherine Abell, MD
Faculty
Dalia Abualsaud
UCD
Ireland
Faculty
Margaret Adam, MD
University of Washington
Faculty
Katherine Anderson, MD
University of Vermont
Faculty
Eliane Beauregard-Lacroix, MD
CHU Sainte-Justine
Canada
Faculty
William Burns, MD
Greenwood Genetic Center
Faculty
Inara Chacon, MD
Faculty
Karen Gripp, MD
Nemours/Alfred I. duPont Hospital for Children
Faculty
Alexander Holtz, MD, PhD
Boston Children's Hospital
Faculty
Joel Hughes, DO
NHGRI/NIH
Faculty
Kenneth Jones, MD
UCSD
Faculty
Amy Lebedoff, MD
UNIVERSITY OF UTAH
Faculty
Gabrielle Lemire , MD
Broad Institute of MIT and Harvard
Faculty
Danny E Miller, MD, PhD
Seattle Children''s Hospital
Faculty
Tyne Miller-Fleming, MD
Vanderbilt University Medical Center
Faculty
Cedrik Ngongang, MD
National Institutes of Health
Faculty
Wai Park, DO
University of California, Irvine
Faculty
Ryan H Peretz, MD
Clinical Fellow
National Institutes of Health
Faculty
Eliza Phillips, MD
Alberta Children's Hospital
Canada
Faculty
Rebecca Reimers, MD, MPH
Brigham and Women's Hospital, Boston Children's Hospital
Faculty
Alexandra Roston, MD
University of British Columbia
Canada
Faculty
Sofia Saenz Ayala, MD
Cincinnati Children's Hospital Medical Center
Faculty
Tara Wenger, MD, PhD
Seattle Children's Hospital
Faculty
Xiao-Ru Yang, MD
University of Calgary
Faculty

Saturday, September 12, 2020

Introduction
8:55AM - 9:00AM
Margaret Adam, MD
A Homozygous WNT9B Variant in Family Members with Renal Agenesis/Hypoplasia/Dysplasia
9:00AM - 9:10AM
Gabrielle Lemire , MD
Germline ABL1-Related Disorder: Further Delineation of an Emerging Recognizable Dysmorphic Syndrome
9:10AM - 9:20AM
Xiao-Ru Yang, MD
A Novel Phenotype in Patients with De Novo DDX23 Alterations
9:20AM - 9:30AM
William Burns, MD
Appropriate Balance of FXF1 Gene Dosage is Essential for Pulmonary Vascular Development and Function
9:30AM - 9:40AM
Alexander Holtz, MD, PhD
Variants in CNOT4 in Individuals with VACTERL or Multiple Anomalies
9:40AM - 9:50AM
Ryan H Peretz, MD
Break
9:50AM - 10:00AM
Analysis of Genetic Investigations in Newborns with VACTERL Spectrum of Malformations
10:00AM - 10:10AM
Inara Chacon, MD
Survey of Disorders of Sex Development in a Large Cohort of Patients with Diverse Mendelian Phenotypes
10:10AM - 10:20AM
Dalia Abualsaud
Next Generation Sequencing and Congenital Heart Disease in Sub-Saharan Africa
10:20AM - 10:30AM
Cedrik Ngongang, MD
Leveraging Medical Biobank Data to Characterize the Genetic and Phenotypic Correlates of Congenital Anomaly Syndromes
10:30AM - 10:40AM
Tyne Miller-Fleming, MD
Early Insights from 1000 Genomes Trio Sequencing Project in a Cohort of Unsolved Holoprosencephaly Patients
10:40AM - 10:50AM
Joel Hughes, DO
Announcements
10:50AM - 11:00AM
Break
11:00AM - 12:00PM
Frequency of Bleeding Problems in Costello Syndrome
12:00PM - 12:10PM
Sofia Saenz Ayala, MD
CHARGE Syndrome Fetal Phenotype by Ultrasound Unlikely to Suggest Diagnosis: The Added Value of 3D Fetal MRI
12:10PM - 12:20PM
Rebecca Reimers, MD, MPH
Natural History of Adults with Trisomy 13
12:20PM - 12:30PM
Amy Lebedoff, MD
Influence of Molecular Classes on Behavioral Disorders in Prader-Willi Syndrome
12:30PM - 12:40PM
Wai Park, DO
Mandibulofacial Dysostosis with Microcephaly: Cohort Expansion
12:40PM - 12:50PM
Katherine Abell, MD
Break
12:50PM - 1:00PM
Special DWS Presentation
1:00PM - 1:10PM
Kenneth Jones, MD
The N-end Rule Pathway Ubiquitin Ligase UBR7 is Involved in a Neurodevelopmental Syndrome with Epilepsy, Ptosis, and Hypothyroidism
1:10PM - 1:20PM
Eliane Beauregard-Lacroix, MD
SETD1B-Associated Neurodevelopmental Disorder
1:20PM - 1:30PM
Alexandra Roston, MD
Variants in SPTLC1 are Associated with Juvenile-Onset Amyotrophic Lateral Sclerosis
1:30PM - 1:40PM
Danny E Miller, MD, PhD
A DACT1 Variant Causes Syndromic Myelomeningocele
1:40PM - 1:50PM
Katherine Anderson, MD
Clinical Delineation of a Rare and Striking Inwardly-Rectifying K+ Channelopathy: Keppen-Lubinsky Syndrome
1:50PM - 2:00PM
Eliza Phillips, MD
Ajourn
2:00PM - 2:10PM

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