The MarketWatch News Department was not involved in the creation of this content.-- New research advances genetic diagnosis -- Demonstrates the potential to expand equitable acces ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

A 6-week-old boy is fighting for his life inside OHSU Doernbecher's pediatric intensive care unit after being diagnosed with ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare genetic disorder that causes bone marrow failure and dramatically increases ...

Scientists in China have developed a "capsule" delivery system to transplant healthy mitochondria into diseased cells, a breakthrough that could lead to new treatments for Parkinson's disease, rare ...

A 7-week-old baby in Oregon is battling two rare conditions in a hospital pediatric intensive care unit nearly two months after his birth. Jack Arneson was born Jan. 26 at Doernbecher Children's ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...

When standard genetic tests came back negative for several children in the UAE with unexplained developmental delays and muscle weakness, doctors could easily have stopped looking. Instead, further ...

My journey has been a long one. I am a paediatric immunologist and principal investigator of a PID research laboratory, and ...

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