Advancing Hope: Pioneering Therapy for Rare Diseases

Agenda for 2/19/16

8:00 a.m. – 8:15 a.m.

Welcome 
Jodie Vento, MGC, LCGC Manager, Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh of UPMC

Michael Drnach, MBA, Executive Director, Children’s Subspecialty Services, Children’s Hospital of Pittsburgh of UPMC

8:15 a.m. – 8:45 a.m.

The Power of Translational Research
Jerry Vockley, MD, PhD 

8:45 a.m. – 9:15 a.m.

Rare Disease Gene Discovery in Plain Populations
Erik Puffenberger, PhD

9:15 a.m. – 9:30 a.m.

Validating Candidate Variants of Interest: Principles into Practice
Karlla Brigatti, MS, LCGC

9:30 a.m. – 10:00 a.m.

Propionic Acidemia & Cobalamin-C Variants in the Plain Communities: Natural History, Biochemistry, and Outcome - Therapeutic Methionine Depletion of the Brain - Helpful or Harmful
Holmes Morton, MD 

10:00 a.m. – 10:15 a.m.

Panel Questions
Jerry Vockley, Holmes Morton, Erik Puffenberger & Karlla Brigatti, MS, LCGC

10:15 a.m. – 10:30 a.m.

 Break

10:30 a.m. – 11:10 a.m.

Rare Genetic Disorders of the Eye and Novel Treatment Modalities  Ellen Mitchell, MD (5 min Q&A)

11:15 a.m. – 12:00 p.m.

Special Presentation: The Advancing Hope Act
Sen. Bob Casey

12:00 p.m. – 1:00 p.m.

Lunch

1:15 p.m. – 1:45 p.m.

Outcomes of Umbilical Cord Blood Transplantation for the Treatment of Leukodystrophies and Mucopolysaccharidoses 
Maria Escolar, MS, MD 

1:45 p.m. – 2:15 p.m.

Reduced Intensity Conditioning for Bone Marrow/Stem Cell Transplant in Non-Malignant Disorders 
Mark Vander Lugt, MD 

2:15 p.m. – 2:45 p.m.

Health Beliefs among Females Diagnosed and At-Risk for Fabry Disease
Katie Long MS, LCGC

2:45 p.m. – 3:00 p.m.

Panel Questions
Maria Escolar, Mark Vander Lugt, Katie Long 

3:00 p.m. –  3:15 p.m.

Break

3:15 p.m. – 3:45 p.m.

Liver Transplant for Metabolic Disease 
George Mazariegos, MD 

3:45 p.m. – 4:15 p.m.

Total pancreatectomy and islet cell autotransplant to treat chronic pancreatitis
Mark Lowe, MD 

4:15 p.m. – 4:45 p.m.

Neonatal Cholestasis 
Robert Squires, MD

4:45 p.m. – 5:00 p.m.

Panel Questions
George Mazariegos Mark Lowe, & Robert Squires

5:00 p.m. – 5:45 p.m.

Closing Keynote: The Next Generation of Newborn Screening: Early Therapeutic Intervention
Edwin Naylor, MD, PhD 

5:45 p.m.

Closing Remarks
Jerry Vockley, MD, PhD