Genetic Disorders

Spinal Muscular Atrophy Rare Diseases Sickle Cell Disease Neurofibromatosis Gene Therapy Trisomy 18 Epidermolysis Bullosa Angelman Syndrome Down Syndrome Mitochondrial Diseases

Inherited POT1 Mutations That Lengthen Telomeres Tied to Eightfold Higher Lymphoma Risk

Long telomeres keep immune cells youthful, letting mutation-bearing clones persist.

Human Neuron Study Links Early Synapse Overactivity to Sanfilippo Dementia

Nick Jonas Marks Maya Kibbel’s 31st Birthday With Emotional Tribute

Jesy Nelson Shares Hospital Update on Twins’ SMA Care at Great Ormond Street

FDA Grants Accelerated Approval to Avlayah for Neurologic Manifestations of Hunter Syndrome

Scotland Launches UK’s First Newborn SMA Screening

Theo Colker, Grandson of Choreographer Deborah Colker, Dies at 14

Colombian Influencer Alejo Little Dies at 33 as Cause Remains Undisclosed

Adam Pearson’s Oscars Red Carpet Appearance Spotlights Neurofibromatosis

Sildenafil Shows Early Benefit in Leigh Syndrome as Europe-Wide Trial Is Planned

Coroner Finds Olivia Martinez Died by Suicide While Impaired by Sedatives and Alcohol

Zinedine Zidane Donates Signed Jersey for Raffle Supporting Research Into Lola’s Rare Disease

Jesy Nelson Named Patron of SMA UK as Petition for Newborn Screening Advances

Angus Ta'avao Announces Death of Son Leo, 8

Unrepaired DNA‑Protein Crosslinks Drive Inflammation‑Linked Premature Aging, Study Finds

ICE Denies Release for Texas Detainee to Attend Son’s Funeral as Family Pursues Legal Reopening

Jesy Nelson and Zion Foster Reportedly Split, Continue Co-Parenting

Josefine Scholl, 17, Reveals Rare McCune-Albright Syndrome on TikTok

UK Mother Who Lost Husband and Son to Rare Alagille Syndrome Leads Awareness Push

Jesy Nelson Sets Feb. 13 Debut for Prime Video Series as She Details Twins’ SMA Type 1 Diagnoses