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 ...

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function.

Guidance opens doors for rare disease treatments, but academic teams will likely need industry partners to meet rigor required for FDA approval PHILADELPHIA, March 31, 2026 /PRNewswire/ -- Researchers ...

India's first national biobank for rare Lysosomal Storage Disorders has been established in Ahmedabad, Gujarat. The ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

The early funding will help transition its research into scalable therapies targeting lysosomal storage disorders.

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 ...

BALTIMORE, March 12, 2026 /PRNewswire/ -- Genomics, a science-led techbio company using large-scale genetic information to develop innovative precision healthcare tools and to accelerate drug ...

A blood test clarifies which gene variants truly cause congenital heart defects, linking diagnosis to more precise ...

Jack Arneson, born Jan. 26, has both Ebstein's anomaly, a congenital heart defect, and Sotos syndrome, a rare genetic disorder.

While genetic testing may be diagnostic, ordering the tests requires physicians to consider the possibility of the illness first. Treatments Curative treatments are rare but available for diseases ...

Scientists in China have developed a "capsule" delivery system to transplant healthy mitochondria into diseased cells, a ...