Brothers with a rare genetic disorder are running out of time. The FDA is blocking their last hope.

Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.

Anomaly: My rare disease amid a crisis in science | Expert opinion

I was born with a rare genetic disorder, one of about 30 patients worldwide. The hallmark symptoms include a shorter stature, ...
NBC New York

FDA approves leucovorin for rare disorder

The Food and Drug Administration on Tuesday approved a generic medication for a rare brain disorder, while walking back suggestions by President Donald Trump and other administration officials that ...
University of California, Davis

Children with Rare, Debilitating Brain Diseases Suffer From Mutations in a Little-Known Protein Complex

Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...
MM&M

Pediatric rare diseases are often underdiagnosed. GeneDx wants to change that.

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...
Bright Side on MSN

Woman, 24, called a “badger” growing up shares how she found self-love and compassion while living with a rare genetic condition

For years, 24-year-old Alex Lightly tried to hide the very thing that now makes her stand out in the best way possible. Born ...

Docs Dismissed Her Chronic Fungal Infections. When Her Son Developed the Same Condition, She Needed to Know Why

Danni-Lea Sandland and her son, Clay, developed thrush from an ultra-rare genetic disorder that impacts just a handful of ...

Fruit and Vegetables are Toxic to My Daughter, Says Mom of 4-Year-Old Girl with Rare Genetic Disorder

Freya 4, has been diagnosed with a rare metabolic disorder called hereditary fructose intolerance (HFI) ...

12-year-old with ultra-rare genetic disorder recovers after life-saving transplant

Doctors at Artemis Hospitals have successfully treated India's first MYSM1-related bone marrow failure syndrome case using a ...

Bathinda: Central varsity-led research detects 49 unknown genetic disorders in children

CUP is leading the project in Punjab in collaboration with the AIIMS, Bathinda; Guru Gobind Singh Medical College and ...
The Connecticut Mirror

Why my daughter’s rare genetic disorder is CT’s moral imperative

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet ...
Long Island Press

Manhasset family researches ultra-rare genetic disorder

Lizz Yeh DiMaiolo said she and her husband, Bobby DiMaiolo, noticed early on that their child was not meeting his developmental milestones. Their son Remy didn’t smile as much as other kids. He didn’t ...