UNC Health opens 1-stop clinic to serve children and adults with Down syndrome
The UNC Down Syndrome Clinic is the first of its kind in North Carolina and one of only a handful of similar clinics across ...
BioSpace16hOpinion
Opinion: Angelman Syndrome Race Heats Up Among Ionis, Ultragenyx and Neuren
Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...
Frontiers15d
Autoimmune pemphigus: difficulties in diagnosis and the molecular mechanisms underlying the disease
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 ...
CNN-News1816d
5 Rare Disease You Must Be Aware Of
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 ...
Spin18d
Usher Announced as Emory University’s 2025 Commencement Speaker
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 ...
EurekAlert!18d
1 gene variant is poised to cure a devastating inherited disease
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 ...
Medical Xpress19d
Human chromosomes evolved at hyperspeed to give us better brains, but there's a catch
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 ...
heraldscotland21d
Mogwai have been making glorious noise for 30 years. It's pure joy
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 ...
JD Supra21d
Will the CFTC’s New Top Cop Usher in an Era of Increased Investigation and Related Rewards for Whistleblowers?
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 ...
SciTech Daily22d
CRISPR Snips Away Extra Chromosomes, Offering New Hope for Down Syndrome Treatment
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 National22d
Boris Johnson's speech at Edinburgh's Usher Hall sparks outrage
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 ...
manilastandard23d
New law to usher in PH’s full digital transformation
A House leader said country’s full digital transformation at hand, following the Senate’s approval of its version of the E-Governance bill that mandates the development and interlinking of electronic ...