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Discussing patient participation in medical research: “We had to take this into our own hands”

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Two days before Christmas in 1994, Sharon Terry's two young children were diagnosed with pseudoxanthoma elasticum (PXE), a rare condition that causes calcium and other minerals to be deposited in the body's tissue. As Terry told the audience at the 2015 Big Data in Biomedicine conference, "[My husband and I] quickly learned that we, in fact, had to take this into our own hands, like many parents have done before us and many parents have done after us." Despite not having a science background, Terry co-discovered the gene associated with PXE and created a diagnostic test for the disease; over the years, she has conducted clinical trials and authored 140 peer-reviewed papers, of which 30 are PXE clinical studies.

In the above video, Terry recounts the inspiring journey of how she and her husband worked for two decades with scientists worldwide to advance research on PXE in hopes of developing therapeutic treatments. She also explains her current work as president and CEO of Genetic Alliance to help individuals, families and communities participate in scientific research and promote the sharing of health data to improve health.

Previously: A look at aging and longevity in this “unprecedented” time in history, Parents turn to data after son is diagnosed with ultra-rare disease, Nobel Laureate Michael Levitt explains why "biology is information rich" at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health and  Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients

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