Wilson Disease Clinic

Wilson Disease Clinic

News & Stories

Computer image of a blue DNA strand and red chromosomes on a black background
Health Lab

Mutations attracted to the X chromosome amplify disease risk

Researchers have discovered that the human X chromosome attracts an unusual kind of DNA mutation, potentially doubling the associated risk of certain genetic disorders, including haemophilia and muscular dystrophy.
baby with hearing aid on ear looking from side view with blue pacifier in mouth
Health Lab

Research may help better predict outcomes in kids with congenital cytomegalovirus

Two new studies may help researchers and clinicians better understand congenital cytomegalovirus (CMV), the most common infectious cause of birth defects and a leading cause of non-genetic hearing loss in children.
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.