Scientist with rare ALS genetic mutation looks to experimental treatment

Every few months for the past three years, Jeff Vierstra has been receiving infusions in his spine that target and disable a mutated gene that made it likely he would develop ALS.
Hoodline

Columbia Scientist Gambles On Spinal Gene Shots To Beat His Family's ALS Curse

Columbia's Silence ALS program is testing spinal antisense therapy in a high‑risk patient; early EMG tests normalized.
ALS News Today

New rare gene variants tied to ALS risk in large international genetic analysis

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

Do you have Dutch ancestry? A rare gene mutation could affect your heart

There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very ...
Hosted on MSN

This rare mutation destroys brain cells, scientists found the cause

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

Six Real Genetic Mutations That Sound Like Superpowers

Scientists have identified rare genetic mutations granting extraordinary abilities, including minimal sleep, extreme strength ...
CNBC

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

Susannah Rosen was diagnosed with a KIF1A gene mutation at the age of 2½. Patients diagnosed with severe KIF1A gene mutations may live only into early childhood, while patients with mild symptoms can ...