An in vivo base editing approach targeting the PRNP gene led to a 52% increase in the lifespan of mouse models inoculated with the most common sporadic and genetic types of human pathogenic prion ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...

Germline mutations in the TP53 gene are uncommon and associated with a specific cancer syndrome known as Li-Fraumeni syndrome. People with Li-Fraumeni syndrome often develop cancer as children or ...

Access to genetic testing brings with it several advantages – one being early diagnosis for young patients with potentially life-threatening multi-system conditions. Retinal-renal syndrome ...

For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death. A study ...

For 30 years, researchers have known that Huntington’s disease is caused by an inherited mutation in the Huntingtin (HTT) gene in which a three-letter DNA sequence ... other disorders that arise from ...

Scientists have found 697 genetic variants – or small changes within a gene – linked to depression, of which almost 300 were previously unknown. A Queensland scientist described the project as ...

With an FDA approval submission for RegenXBio’s Hunter syndrome gene therapy already underway, the biopharma has now found a commercialization partner for both the U.S. and Asian markets.

The company is submitting the Hunter syndrome treatment for U.S. approval on a rolling basis, a process it expects to complete this quarter. An approval would make RGX-121 the first gene therapy for ...

Oct. 21, 2020 — Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. Now, for the ...