Nearly 30 million Americans are affected by rare diseases, which are defined as disorders that appear in fewer than 200,000 Americans per year. There are approximately 7,000 such diseases, each with its own cause, symptoms, and — for those patients who are lucky — treatment.
At Penn's Center for Orphan Disease Research and Therapy investigators are working to expand the number of lucky patients by studying rare disorders and developing novel therapies. A $10 million grant from an anonymous donor in July 2011 catalyzed establishment of the center, which brings together an interdisciplinary team of researchers from across the Perelman School of Medicine. Penn researchers are conducting nearly 300 different projects on 129 rare and orphan diseases.
The ongoing work at Penn runs the research gamut from basic biology to clinical testing. Nearly a third of the projects are in the preclinical stage, with scientists working to uncover the molecular and cellular causes of the ailment. For example, Mickey Marks, PhD, has learned why patients with a rare genetic disease called Hermansky-Pudlak Syndrome (HPS) type 2 suffer recurrent bacterial infections.
MUSCLE AND NEURODEGENERATIVE DISORDERS
In the case of neurodegenerative and motor disorders, Penn research extends from molecular investigations right into the clinic. Working with live-cell imaging techniques that allow her to watch on-going processes in the cell, Erika Holzbaur, PhD, learned how different mutations in a single gene leads to multiple distinct diseases. And, Robert B. Wilson, M.D., Ph.D., screened more than 340,000 compounds to look for potential drugs that could halt the progression of the neurodegenerative disease Friedreich's ataxia. Read more.
LEBER CONGENITAL AMAUROSIS
Overall a third of the rare disease research projects at Penn are already affecting patient care or involve clinical testing. In the case of a rare form of inherited blindness called Leber congenital amaurosis, Penn researchers have found a way to partially restore patients’ sight through gene therapy. Read more.
HOMOZYGOUS FAMILIAL HYPHERCHOLESTEROLEMIA
Meanwhile, Daniel J. Rader, MD, used an insight from studying a rare disease that causes extremely low cholesterol to identify a treatment for another rare disease characterized by extremely high cholesterol called homozygous familial hypercholesterolemia (FH). Read more.
Many of the diseases under study are so rare that few of us have heard of them. But for affected patients, the reality can be devastating unless they can get help. Penn researchers are working to provide that help.
THE POWER OF A GENE
Fibrodysplasia ossificans progressiva, or FOP, is an ultra-rare disease in which patients' muscles turn to bone. Over time, the affected individuals become encased in a second, inflexible skeleton. In 2006, after 15 years of work, Frederick S. Kaplan, MD, the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine, and Eileen M. Shore, PhD, the Cali and Weldon Professor of FOP Research, discovered the mutation that causes FOP. The discovery has led to a deeper understanding of what goes awry in patients' tissues — and points to potential avenues for therapy. Read more.