Translational Medicine in the Plain Populations Conference

Thursday, Aug. 3 and Friday, Aug. 4, 2017
University Club
123 University Place
Pittsburgh, Pennsylvania

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

translational logo


Thursday, Aug. 3, 2017

8 a.m. Registration Opens, Light Breakfast
9 a.m.

Welcome – Adam Heaps, MS

9:30 a.m. Mental Health Genetics – Sander Marks, MD
10:30 a.m.

Cardiology Solutions

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

Noon Lunch
1 p.m.

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

2 p.m.

Diagnostic Mysteries (by submission)

Olivia Wenger, MD (chair)

Vicky Su, MD (Genetics Consultant)

3:30 p.m. Break
4 p.m.

Metabolic Disease

Zineb Ammous, MD (chair)

Olivia Wenger, MD – Propionic Acidemia (PA)

Jessica Scott Schwoerer MD – Phenylketinuria (PKU)

D. Holmes Morton, MD – Pyruvate Kinase Deficiency (PKD)

5 p.m. Adjourn
7 p.m. Evening Reception (Children's Hospital of Pittsburgh of UPMC)

Friday, Aug. 4, 2017

8 a.m. Registration Opens, Light Breakfast
9 a.m. Welcome – Adam Heaps, MS
9:15 a.m.

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

10:45 a.m.

Innovative Therapies

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

12:15 p.m. Lunch
1:15 p.m. Adjourn                                                                                              

CME Accreditation

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.