Working with agency partner DCX Growth Accelerator, GeneDX takes direct aim at the issue of underdiagnosis of pediatric rare diseases.

In the journal Childhood in the Past, Ph.D. candidate Duru Yağmur Başaran published the results of an analysis of an over 900 ...

Attached to nearly every human cell is an antenna-like structure known as the primary cilium, which senses the cell's ...

LCH is a rare disease where immune cells build up and create tumors and tissue damage. Sometimes LCH causes a skin rash or an ...

When Casey McPherson became a father, his purpose became clear. He needed to raise his daughter, Rose, to be loving, courageous, healthy and strong. He needed to protect her. Many parents can ...

After two children passed from a rare genetic disease, New Orleans mom Missy Ward wrote a memoir from the perspective of her ...

This Rare Disease Researcher Interest Group panel discussion will bring together researchers from different fields to learn about and discuss rare disease research, regardless of experience level ...

For Ms Miria Mukiibi Kibirige, that struggle is a daily reality. She cares for two children living with epidermolysis bullosa (EB), a rare genetic skin disorder causing painful, life-threatening ...

In a closely watched case, Roche suffered a setback as a court said it would permit a generic version of its rare disease ...

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...