"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

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

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal ...

ST. PAUL, Minn., Aug. 26 (UPI) --New artificial intelligence models can yield much more nuanced and detailed assessments of genetic risks for 10 inherited diseases, researchers reported Thursday. This ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Please provide your email address to receive an email when new articles are posted on . Patients with inherited retinal diseases may present with seemingly routine conditions. Look for comorbid ...

New research advances genetic diagnosisDemonstrates the potential to expand equitable access to treatment for patients living with rare inherited metabolic and neurodegenerative diseasesBALTIMORE ...

Eight children in the U.K. have been spared from devastating genetic diseases thanks to a new three-person in vitro fertilization technique, scientists from Newcastle University reported on Wednesday.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Approximately 1 in 11 patients with kidney failure requiring replacement therapy have inherited kidney diseases or congenital anomalies of the kidney and urinary tract. Genetic testing is warranted to ...