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 ...

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 ...

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 ...

The former Prime Minister is to appear at the Usher Hall in Edinburgh later this year for a live show, with tickets from £53.90 to £159.90. The event, which will be preceded by a ‘meet and ...

Israel's announcement that a body returned from Gaza on Thursday was not that of Shiri Bibas, as Hamas had said, throws up another stumbling block in this ceasefire deal. It was thought the ...