Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...
Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...
Lucy Landman was born with a very rare genetic disorder that causes severe intellectual disability, weak muscles and seizures, among other symptoms. "She is expected to very much never be able to live ...
"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...
A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...
The gene-editing technique known as CRISPR is promising to revolutionize medicine. Some researchers are trying to help make it available for people with very rare genetic disorders. A gene-editing ...
For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...
A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...