More articles about: Genetic Disorders
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
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.
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.
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.
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
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.
Health Lab
Uncovering the link between a common congenital viral infection and autism
Children who contracted a viral infection known as congenital cytomegalovirus in utero may be nearly two and half times more likely to be diagnosed with autism, a study suggests.
Health Lab
Getting ahead of aortic disease
Patient bypasses a life threatening aortic aneurysm with the help of Michigan Medicine's genetic counseling and a streamlined cardiac referral program.
Health Lab
Two genes linked to autism implicated in brain cell connectivity
A new study links two autism-associated genes together for the first time, potentially revealing a mechanism behind brain changes seen in people with autism.
Health Lab
Gene therapy to treat sickle cell disease
How two newly approved gene therapies, including novel technology CRISPR, may help kids and adults with inherited blood disorders
Health Lab
Medication found safe and effective for preventing bleeding in infants with hemophilia A
Infants with hemophilia A who received monoclonal antibody emicizumab experienced few bleeding events and no serious complications, a study suggests.
Health Lab
A rare genetic condition with an even rarer treatment
Doctors try to improve one four-year-old’s life and other patients like her
Health Lab
10 Studies That Highlight the Importance of Rare Disease Research
Rare Disease Day is celebrated across the globe to raise awareness about rare diseases and how they impact patients’ lives. Michigan Medicine is working to better understand the mechanisms behind these rare diseases.
Health Lab
Retinitis Pigmentosa in Children: 5 Facts Families Should Know
The genetic disease that causes vision loss can affect all ages, including young people. Learn more about symptoms, risk factors and management.
Health Lab
Gene Therapy Treatment Targets Rare Mutation Tied to Blindness
: Advances in gene therapy are yielding new options for treating inherited retinal degenerations, giving retina specialists new tools — and new hope for patients and families.
