Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

This is read by an automated voice. Please report any issues or inconsistencies here. Health Secretary Robert F. Kennedy Jr. continues to falsely claim that vaccines cause autism despite overwhelming ...

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into ...

Researchers have understood for decades that some forms of deafness are inherited, yet until now, few of those genetic clues have led the way to therapy. That is beginning to change. An international ...

In rare cases -- for instance, among siblings in two families from Pakistan and Oman described in a new study -- children have been born with an unnamed neurological disorder. Now researchers have not ...

A treatment that is effective against hearing loss caused by the 'MPZL2 gene' mutation has been developed. A research team ...

Patients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile. When you purchase through links on our site, we may earn an affiliate commission. Here’s how it ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...