This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Collaborations Pharmaceuticals, Inc. demonstrates a treatment for CLN1 Batten disease crosses the blood-brain-barrier

PPT1 is a recombinant protein used to treat an ultra-rare disease called Batten disease CLN1 for which there is ...

US FDA places clinical hold on Regenxbio's rare disease program

Jan 28 (Reuters) - Regenxbio said on Wednesday the U.S. Food and Drug Administration has placed a clinical hold on two of its ...
New Atlas

Surprising way cancer cells clear problematic proteins in the brain

For some time, we've known that it's rare to see people with both cancer and Alzheimer's disease. Now, scientists believe ...

In rare cases, autoantibodies can cause severe reactions to a discontinued Chikungunya vaccine

A new study published in the Proceedings of the National Academy of Sciences suggests that rare cases of brain inflammation ...

Scientists Pinpoint New Drug Target for Devastating “Brain on Fire” Disease

A new study reveals a critical vulnerability in a brain receptor targeted by a rare autoimmune disease. Researchers have ...
New Scientist

Why people can have Alzheimer's-related brain damage but no symptoms

Some people don’t develop dementia despite showing signs of Alzheimer’s disease in their brain, and we're starting to ...

Woman with Rare Metabolic Disorder Adopts Girl with the Same Disease: 'She's My Mini-Me' (Exclusive)

Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...
News-Medical.Net

New discovery may aid in early detection of rare genetic disease

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...
STAT

FDA halts gene therapy trials after brain tumor found in patient

The Food and Drug Administration paused trials for two experimental gene therapies from Regenxbio after one child developed a ...

This woman was misdiagnosed with bipolar disorder. It turns out she has a rare autoimmune disease instead

A relatively new class of autoimmune diseases that affect the brain is making psychiatrists rethink some diagnoses.

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 ...