Yahoo

Her 5-year-old has a severe, rare disease. There's a cure, but she can't get it.

Add Yahoo as a preferred source to see more of our stories on Google. Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested ...
STATOpinion

My granddaughter has a rare disease. But clinical trials often exclude patients like her

Even when promising clinical trials exist, and the FDA allows expanded access, rare disease patients like my granddaughter ...
Medical Xpress

Rare cranial disorders: Towards a non-invasive therapy using gene silencing delivered by nanoparticles and 3D printing

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an injectable gel produced through 3D printing, can switch off the defective ...
Yahoo

Kennedy approves adding two rare disorders to newborn screenings

Add Yahoo as a preferred source to see more of our stories on Google. U.S. Secretary of Health and Human Services Robert F. Kennedy Jr. speaks with U.S. Vice President JD Vance (not pictured) during ...
Medical Xpress

Genome editing has corrected rare brain mutations in mice; could also help fight neurological diseases

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...
News9Live on MSN

One gene, many roles: How DNA makes rare diseases look different in every patient

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...
Atlanta Journal-Constitution

A rare disease exhausted him. A drug gives him energy to fight for others.

Elamipretide shows promise in treating Barth syndrome. Advocates hope it will win FDA approval. Walker Burger, who has Barth syndrome, injects the drug elamipretide at his home in Monroe on Friday, ...
WEAU

Twin brothers with rare genetic disorder inspire statewide fundraising campaign: Full Court for a Cure

EAU CLAIRE, Wis. (WEAU) - While most families countdown to Christmas, Erin Binder is counting something else: time. Her 14-year-old twin sons, Grady and Jace, both have PKAN, a rare genetic disorder ...
Scientific American

Gene Therapy Marks a Turning Point for Rare Skin Diseases

This article is part of Nature Outlook: Skin, an editorially independent supplement produced with financial support from LEO Pharma. About this content. KaDee Troop is the mother of seven adopted ...
FierceBiotech

Servier Sharpens Its Focus on Rare Neurology

Rare neurology is entering a pivotal moment. Scientific understanding is accelerating, new technologies are maturing, and the patient need remains profoundly unmet. As the biopharmaceutical community ...
USA Today

Her 5-year-old has a severe, rare disease. There's a cure, but she can't get it.

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 ...