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The two-day conference focused on clinical care for and research about genetic conditions that affect the Plain community. Collaborative efforts between major medical centers, universities, and the consortium of clinics that have an interest in the Plain community were emphasized. The conference aims to bring together clinicians, scientists, administrators, and others to discuss health and science topics related to the Plain community.
In its fifth year, the conference was generously hosted by the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC. For questions, please contact us at email@example.com.
Welcome – Adam Heaps, MS
Devyani Chowdhury, MD (chair) – Overview of Cardiology Landscape
Jim Deline, MD – Coronary Artery Disease in the Amish
Katie Williams, MD, PhD – ApoB Familial Hypercholesterolemia
Jim Deline, MD – Hypertrophic Cardiomyopathy
Clinical Research Design
Kevin Strauss, MD (chair) – Clinical Trial Design: Opportunities and Challenges in Rare Disease
Katie Williams, MD, PhD – CHH: Research, Consensus, and Clinical Practice
Alan Shuldiner, MD – Research Design: Genomics and Founder Populations; the ARC Experience
Diagnostic Mysteries (by submission)
Olivia Wenger, MD (chair)
Vicky Su, MD (Genetics Consultant)
Zineb Ammous, MD (chair)
Olivia Wenger, MD – Propionic Acidemia (PA)
Jessica Scott Schwoerer MD – Phenylketinuria (PKU)
D. Holmes Morton, MD – Pyruvate Kinase Deficiency (PKD)
New Discoveries (by submission)
Emma Baple, PhD (chair) – Mutation of HYAL2 Causes an Orofacial Clefting Syndrome
Matthew Demczko, MD, and Katie Williams, MD – Yarsopathy
Rob Jinks, PhD – CRADD Mutations Associated with Intellectual Disability Open a New Window into Development of the Human Cerebral Cortex
Lina Gonzalez, MD – Mitochondriopathy in AK2 deficiency, a novel genetic disorder in the Amish population
Erik Puffenberger, PhD – Exome Sequencing Strategy
Jerry Vockley, MD, PhD (chair) – Advances in PKU Therapy
Hoda Abel-Hamid, MD, and Kevin Strauss, MD – Novel Therapeutics from Spinal Muscular Atrophy
James Squires, MD – Anticipating Gene Therapy for Crigler-Najjar Syndrome
The University of Pittsburgh School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The University of Pittsburgh School of Medicine designates this live activity for a maximum of x.x AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other health care professionals are awarded x.x continuing education units (CEU’s) which are equal to x.x contact hours.
This activity has been approved for AMA PRA Category 1 Credit™.
Sponsored by the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh of and University of Pittsburgh School of Medicine Center for Continuing Education in the Health Sciences.
Participation by all individuals is encouraged. Advance notification of any special needs will help us provide better service. Please notify us of your needs at least two weeks in advance of the program by calling Jodie Vento at 412-692-7273.
The University of Pittsburgh is an affirmative action, equal opportunity institution.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.