We generally don’t think of rare-disease advocacy as funny. But Sammy Basso, who died at 28, will be remembered for his ...

Traditionally, genetic disorders have been classified as monogenic (involving one gene) or complex (involving many genes and their interaction with each other and the environment). The ...

刚刚，国家药监局官网显示，渤健（Biogen）药物托夫生（Tofersen）在国内获批上市，用于治疗 SOD1 基因突变的成人肌萎缩侧索硬化症 （ALS），即渐冻症。

What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns.

1 in 25 children is affected by a genetic disorder. There are over 7,000 rare genetic diseases with no cure. More than 300 million people are living with a genetic disease worldwide. And now staff, ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at ...

While some mutations don't cause any visible effects or problems, others can impact our health and raise the risk of having a ...

9, 2024 — Researchers tested a preclinical model for an experimental gene therapy designed to treat multiple sulfatase deficiency (MSD), a disorder that affects the brain, lungs, skin ...

Gene therapy is a revolutionary approach to treating genetic disorders by introducing functional genes into cells to replace or correct defective genes. It involves the use of genetic material, such ...

This approach integrates both lifestyle practices and genetic insights of an individual. Consequently, the understanding of ...

"I meet elderly women who have had eating disorders who whisper to me, 'My mother cooked all day long, but she never ate.'" "I think what we're learning is that the genetic predisposition ...

Genetic tests are not available for every possible inherited disorder, and are not completely reliable. They may produce false positive or false negative results, which can have serious ...