UW Health: Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions – Wisbusiness.com

MADISON, Wis.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.

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, which 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 about what is causing their conditions, to better understand the conditions once they are identified and to discover new genes which can cause human disease according to Dr. Stephen Meyn, director, UW Center for Human Genomics and Precision Medicine.

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, Meyn said. 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.

The clinic has a core staff of medical geneticists, genetic counselors and researchers working in partnership with researchers and lab technicians at the Wisconsin State Laboratory of Hygiene and the Biotechnology Center at UW-Madison as well as Stanford University and The Hospital for Sick Children in Toronto, Canada. In addition, multiple UW Health clinical consultants are contributing their expertise about specific management and treatment strategies. The clinic will be located at the Waisman Center near University Hospital in Madison.

Patients will be referred by their healthcare provider. Referrals are evaluated and those patients who are most likely to benefit from the clinic and associated research study.

From there, patients are seen in the clinic by UW Health geneticists, genetic counselors and specialists who are experts on the patients symptoms. Eligible individuals are recruited into the clinics research study and blood and/or skin samples are taken for analyses from the patient and the patients 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.

Patient information is housed privately and securely on servers at UW Health and SMPH and shared safely with collaborators to provide advanced genomics and other technologies not available to patients on a clinical basis.

We are pushing the technological envelope to find answers for these families, to learn more about these diseases, and to help develop cures, Meyn said.

The centers analyses of the genetic information can go beyond just examining all of the protein-coding regions of genes, called the exome, by analyzing the entire genome, including the 8 to 12% of the genome that standard genomic analyses can miss. The clinic and its North American collaborators also can study patients RNA, and small biological compounds called metabolites, Meyn said.

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. Were working to give patients access to the latest technology and expertise here at UW, but also from this global community.

Referring physicians can learn more about the clinic by visiting itswebsite.

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UW Health: Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions - Wisbusiness.com