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Health Matters: Bringing awareness to rare diseases

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In recognition of Rare Diseases Day on February 28, the MUHC Foundation’s Tarah Schwartz speaks to Arnold Kristof, MD. Dr. Kristof explains that, in order to be considered rare, a disease must occur in fewer than 1 in 600,000 individuals; however, treatment of all the rare diseases combined take up a large proportion of healthcare resources.

Dr. Kristof’s research is focused on LAM (lymphangioleiomyomatosis), a rare and fatal disease that causes tumors to form in the lungs. These tumors release a substance that eventually destroys the lungs. Current treatments, discovered in the past ten years, do not work for many patients, and in any event only slow the progression of the disease. Transplants may also be a possibility.

His research is aimed at finding additional treatments for the disease, ways to kill the bad cells and to discover a cure. It involves the investigation of blood and biopsies donated by patients. Dr. Kristof is optimistic about the future as he has seen considerable scientific developments in recent years. As well, clinical networks now exist in North America and Europe, and patient-oriented organizations have been established to provide support and expertise to patients who have waited months or years for an accurate diagnosis. In fact, many of Dr. Kristof’s patients are self-referred.

Arnold Kristof, MD, Scientist at the RI-MUHC and member of the Meakins-Christie Laboratories and physician in the Respiratory Medicine Division and Critical Care Medicine at MUHC and McGill University.

Listen to the Podcast

Bringing awareness to rare diseases. MUHC Foundation Health Matters Podcast. February 27, 2022.