Wilson Disease Clinic

Wilson Disease Clinic

News & Stories

Francis Collins MD PhD needle haystack
News Release

A gene discovery that changed cystic fibrosis care, and genetic research, forever

Modern cystic fibrosis care at U-M Health includes medication based on genetic discoveries as well as many other options
Person rubbing foot while sitting
Health Lab

New study hints at the cause of a painful skin condition—and at a long-awaited potential treatment

New University of Michigan-led research from the lab of Pierre Coulombe, Ph.D. offers much needed answers about a specific protein, called keratin 16 (K16), implicated in pachyonychia congenita (PC) and other skin conditions.
two kids wearing super rare shirt
Health Lab

How advanced genetic testing helped one family plan for their child’s future

Whole genome sequencing helped one family confirm diagnosis of a rare condition called Blepharophimosis Ptosis Epicanthus Inversus Syndrome, or BPES, in their young children, opening the door to personalized care and long-term health planning.
family gathered outside taking a photo in front of trees in nice clothing
Health Lab

Family finds answers to rare, genetic glaucoma

When a father and his two kids developed an array of peculiar symptoms, doctors, Brazilian researchers and the NIH partnered to find a diagnosis and path to treatment.
Illustration of doctor with family standing under family tree of medical conditions
Health Lab

Many parents want help preventing their child from developing hereditary health conditions

Poll shows two thirds of parents want their healthcare provider to suggest ways to prevent their child from developing a health problem that runs in the family
Ophthalmologist Adam Jacobson, M.D., examines a young patient.
Philanthropy News

Gift Aims to Save Children’s Sight

Timothy and Laurie Wadhams’s gift to the W.K. Kellogg Eye Center establishing the Wadhams Family Center for Childrens Vision will advance congenital eye disease research.