Four-week-old Tommy Parry is one of only 23 in the world ever to be born with the mitochondrial gene, which impairs his ...

GeneDx CEO Katherine Stueland likes the potential of newborn testing, but she says her Stamford, Connecticut, company is ...

A study led by UCL found that individuals with rare diseases were five times more likely to die from Covid-19 than the ...

The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a ...

He was diagnosed with Parkin 2. This is a very rare genetic form of the disease, and quickly silenced critics at the time who claimed it was the rocker’s notorious substance use that had been ...

As a genetic disorder, eFAD clearly is the consequence of ... although in a majority of families disease begins in the forties and early fifties. In rare instances, disease can show up in different ...

In this Review, the authors summarize the genetic and epidemiological characteristics of rare variants associated with Alzheimer disease so far, and explore the insights that these variants have ...

Children’s Healthcare of Atlanta’s heart clinics treat about 200 children a year. This includes Audrey Koch, a Roswell teen with a heart condition called Long QT syndrome.

The Greater Middle East is home to a rich genetic diversity that remains largely untapped in genomic research. This Perspective explores its potential for rare disease research, obstacles limiting ...