Rare Daily Staff
The University of Wisconsin’s 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.
The center is intended to serve as a 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 will provide a diagnosis to patients who in many cases have searched for years for an answer about what is causing their conditions, seek to better understand the conditions once they are identified, and work to discover new genes that can cause human disease, according to Stephen Meyn, director of the 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 one 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 Meyn. “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.
The center’s 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 percent 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.
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.
“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.
Photo: Stephen Meyn, director of the UW Center for Human Genomics and Precision Medicine