More articles about: Rare Diseases

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.

The Stomp Out Sarcoma 5K joins patients, survivors, care providers, and loved ones to raise funds and awareness for sarcoma research at the U-M Rogel Cancer Center.

Charlotte Dengler was diagnosed with an eye lesion that compromised her vision and underwent surgery at Kellogg to remove the lesion and now her vision is being slowly restored.

A family seeks answers for BPAN, a rare neurodegenerative disease, affecting their teen daughter.

A woman shares her story of living with a rare disease called Addison's disease.

Building a comprehensive human kidney cell and tissue catalog could help develop more treatments for kidney disease.

The world may be on the horizon of a revolution in understanding rare diseases and developing new treatments, but for those living with rare diseases, raising awareness now about these little known conditions is key.

A deadly endocrine tumor discovered during a woman’s pregnancy explains years of debilitating symptoms. A complex, six-hour surgery by a Michigan Medicine team kept mom and baby safe.

What do you do when you’re diagnosed with an ultra-rare disease? For one patient, the answer was simple: Find the experts and never give up.

After being diagnosed with a rare endocrine disease, Andra Stratton was dismayed to find little information about the condition. So she started a foundation for others also affected and seeking answers.