Craig Thomas told PEOPLE that the birth of his son inspired him to inject more emotion into the hit sitcom More than a decade ...

European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to ...

When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form: a golden retriever named Yammy. Susan Bresnahan’s son, Patrick, was born in 2020 during ...

Rare diseases are typically due to genetic causes. These causes are more and more often identified using genome sequencing techniques. Genome sequencing examines the entire genome of an individual ...

Rare diseases are typically due to genetic causes. These causes are more and more often identified using genome sequencing techniques. Genome sequencing examines the entire genome of an individual ...

Wolfram Syndrome primarily affects children with insulin-dependent diabetes. The support group at KEM Hospital in Pune now ...

This breakthrough discovery holds the potential to pave the way for more effective treatments for those affected by this ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

Rare diseases are in their majority of genetic origin. They also are very severe, degenerative, life threatening, progressive diseases, with very high social impact on families and patients.