When Jacobson was still pregnant with Verity, a common phrase she heard from doctors was that trisomy 18 was “incompatible ...

Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...

Background: Chromosome 15q11–13 contains a cluster of imprinted genes ... was used to measure 10 15q11–13 transcripts in maternal 15q11–13 duplication, Prader–Willi syndrome, and control brain samples ...

Senear-Usher pemphigus and bullous lupus ... The term paraneoplastic autoimmune multi-organ syndrome (PAMS), classically described as PNP by Anhalt et al., indicates the severity of multisystem ...

This is a metabolic disorder caused by glucocerebrosidase enzyme deficiency, resulting in fatty buildup in the liver, spleen and bone marrow. Bone pain, fractures, osteoporosis, anaemia-induced ...

Usher appears with Jennifer Hudson on "The Jennifer Hudson Show" airing February 4, 2025 in Burbank, California. (Photo by Chris Haston/WBTV via Getty Images) Usher will take the stage in a unique ...

Now, Shum and a team of collaborators have found a variation in a separate gene that prevents the disease, which is called COPA Syndrome. The discovery could usher in a new gene therapy for a ...

The answer could lie in exceptional DNA. Scientists at UC San Francisco have found that parts of our chromosomes have evolved at breakneck speeds to give us an edge in brain development compared ...

What sustains a band over almost 30 years. Ambition? It will long have been sated or frustrated by now. Anger? It will have surely burned off or turned to acid in the blood after all these years ...

On February 14, 2025, the Commodity Futures Trading Commission (CFTC) signaled some “love” for whistleblowers and the future of the CFTC’s whistleblower program when announcing that Brian ...

A proof-of-concept study shows that CRISPR-Cas9 can eliminate extra chromosome copies in Down syndrome cells. The method restores normal gene function but is not yet ready for human trials. Scientists ...

The former Tory prime minister is booked to speak at the Usher Hall in September with ticket prices starting at £53.90 and rising to £159.50. However, a petition launched last Wednesday calling for ...