Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
Jonathan Hughes, diagnosed with rare Progressive Supranuclear Palsy, pursues his dream of completing a 5K race with community support in San Diego.
A new study reveals a critical vulnerability in a brain receptor targeted by a rare autoimmune disease. Researchers have ...
A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...
No standard treatments for the sometimes deadly disorder have been developed, but that may change due to the newly published research.
A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...
A Texas college student spent months suffering from unexplained seizures and psychosis before UTHealth Houston doctors determined she had a rare condition.
(CNN) — Robert F. Kennedy Jr.’s halting, gruff speaking voice, which at times can make him hard to understand, was front and center during Thursday’s contentious Senate Finance Committee hearing. The ...
A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...