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UW Health clinic focuses on solving genetic mysteries

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MADISON (WKOW) --A new collaboration between UW Health, the Waisman Center and the UW School of Medicine and Public Health aims to discover, diagnose and ultimately better understand rare genetic diseases.

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The UW Center for Human Genomics and Precision Medicine at the UW School of Medicine and Public Health recently opened its first patient clinic, the UW Undiagnosed Genetic Disease Clinic. The clinic is for people with undiagnosed genetic diseases, creating a vital local hub in a global community of experts dedicated to solving medical mysteries with state-of-the-art technologies for people whose conditions remain undiagnosed despite an extensive prior clinical workup.

The clinic has a three-fold mission: to provide a diagnosis to patients who in many cases have searched for years for an answer, to better understand the conditions once they are identified and to discover new genes which can cause human disease.

There are more than 7,000 known rare genetic conditions, each of which affects fewer than 5,000 people in the United States. However, though these conditions are individually rare, collectively rare diseases affect 1 in 12 people, which means approximately 450,000 people in Wisconsin have a rare disease. The underlying genetic causes have only been identified for about half of those individuals affected with these conditions. Many are children whose families spend years conferring with different specialists on long, and often stressful, diagnostic journeys.

“This is a research effort, but the focus is on the patient,” said Dr. Stephen Meyn, director for UW Center for Human Genomics and Precision Medicine. “When we think about how we can help these people, it is by diagnosing them so they and their healthcare providers can better understand their conditions and live their lives to their highest potential.”

Patients will be referred by their healthcare provider. From there, patients are seen in the clinic by UW Health geneticists, genetic counselors and specialists who are experts on the patient’s symptoms. Eligible individuals are recruited into the clinic’s research study and blood and/or skin samples are taken for analyses from the patient and the patient’s close family members. Patients will be accepted into the study if their symptoms are likely due to a single genetic cause and the patient has exhausted standard genetic testing.

Beyond accessing cutting-edge technology and consulting medical experts from different specialties, the clinic has links to rare genetic disease researchers, clinicians and patient organizations worldwide.

“Madison is becoming part of an international network of researchers and clinicians that focuses on rare genetic diseases,” Meyn said. “We’re working to give patients access to the latest technology and expertise here at UW, but also from this global community.”

The clinic will be located at the Waisman Center near University Hospital in Madison.

Emily Friese

27 News Producer

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