Coast to Coast: Rare Disease Medical Innovation

Coast to Coast: Rare Disease Medical Innovation

03.02.12 | By Preet Bilinski

Today, we have a guest post from Eileen Cannon, Executive Director for the PhRMA Foundation. Below, Eileen discusses the challenges and the progress made by the PhRMA Foundation fellows in regard to rare disease research.

The quest to understand and cure a rare disease requires remarkable perseverance and deep dedication - it is a commitment to demanding and complex work that may ultimately benefit only a few. Known and unexpected challenges can hinder research, sometimes substantially enough to turn a career in a different direction.

Funding, clinical trial participation and public awareness present significant hardships for small research teams. Despite these difficulties, great advances are being made to improve rare disease research, and many scientists agree that no shortage of staff or financial support will deter that progress.

PhRMA fellows have been instrumental in the development of new treatments, and some are shifting their focus to eliminate rare diseases entirely. Here's a look at what they're doing:

  • "My lab works largely on lupus, rare connective tissue diseases like myositis, scleroderma and mixed connective tissue diseases, and to a lesser extent on very rare immunodeficiency disorders."- P.J. Utz, MD, Stanford University School of Medicine
  • "My work has been on a protozoan parasite, Leishmania. It is relatively rare in the U.S. but common in many parts of the world, including areas where the U.S. is engaged in military activities, where soldiers can be frequently infected." - Stephen Beverley, Washington University in St. Louis School of Medicine.
  • "I work on ovarian cancer, considered a rare disease. (<25,000 new cases annually, fortunately), and have an NCI RO1 grant to develop drugs to inhibit RNA splicing factors that are novel therapeutic targets in this disease." - William T. Beck, PhD, University of Illinois at Chicago, Former PhRMA Foundation Grant Recipient
  • "My research work focuses on malaria and antimalarial drugs. My particular area of interest is the optimization of antimalarial drug treatment in vulnerable populations including pregnant women and pregnant women living with HIV." - Myaing Myaing Nyunt MD, PhD, Johns Hopkins Bloomberg School of Public Health
  • "My lab is working on Huntington's using iPS cell technology to create pathologic neurons from individual patients. We have also studied a rare genetic brain disease of children called glutaric acidemia type 1 that has some similarities in neuropathology to Huntington's, though the mechanisms of cell death of both diseases remain unknown. That's what we continue to explore." - Curt R. Freed, MD, University of Colorado School of Medicine
  • "Our laboratory has been studying Niemann-Pick Type C disease. It is a rare but lethal neurodegerative disorder that typically causes death in the early teenage years. There are only approximately 500 cases worldwide." - Jeff Krise, PhD, The University of Kansas School of Pharmacy

Improving patient care starts with research - every discovery in the lab is a potential breakthrough for those afflicted with rare and chronic illnesses. For 47 years, the PhRMA Foundation has facilitated programs to support the research efforts and careers of scientists that have gone on to develop life-saving, cost-effective medicines. By studying the genetic components of rare disease, the Foundation's award recipients have helped link specific genes to a number for rare illnesses. As a result, they are better able to predict the course of these diseases and identify more effective, personalized treatments.

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