The U.S. government has awarded Children’s Hospital of Philadelphia $39 million to develop a scalable platform for treating rare genetic, liver-related diseases in infants and children. The federal ...

A five-year-old boy was diagnosed with the ultra-rare genetic condition BPAN after his parents became concerned when he was ...

Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that could contribute to complex diseases, such as breast cancer, type 2 ...

A Longview toddler bravely recovers in Dallas after a bone marrow transplant to treat IPEX syndrome, a rare disorder causing the immune system to attack the body.

The Jackson Laboratory (JAX) today announced it has been selected, with the Broad Institute and other partners, for an up to $34.5 million contract from the Advanced Research Projects Agency for ...

The development of a pioneering gene therapy to treat a devastating, rare immune disorder led by UCL scientists is set to ...

Researchers at The University of Texas MD Anderson Cancer Center have identified why some patients with a rare type of ...

A new study from MIT neuroscientists reveals how rare variants of a gene called ABCA7 may contribute to the development of Alzheimer's in some of the people who carry it. Dysfunctional versions of the ...

Acute leukemias with chimeric fusion genes involving FET (FUS, EWSR1, and TAF15) family proteins and ETS (E26 ...

A rare variant of a gene called TP53 means Tracy Hutchinson has an extreme risk of developing cancer anywhere in her body, ...

Justene Alpert shared a painful experience of ending her pregnancy in a lengthy Instagram post. The actress took to social ...