Advancing Hope: Pioneering Therapy for Rare Diseases

Agenda for 2/19/16

8:00 a.m. – 8:15 a.m.

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.


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.


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.


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