Results from a French study of a cohort of individuals with the inherited rare disease Fanconi anemia shed light on how some people with this condition go on to develop secondary leukemia. Writing in the Feb. 2, 2023, issue of Cell Stem Cell, the authors also described some initial tests on cell lines in a mouse model of a drug that has potential to treat individuals with Fanconi anemia who progress to leukemia.
Herophilus Inc. is conducting in vivo studies of lead candidate HRP-12975, a small-molecule therapy for Rett syndrome, with funding from the Rett Syndrome Research Trust. The company is generating efficacy and safety data with HRP-12975 using genetic mouse models of Rett syndrome.
In a study published in the online edition of Proceedings of the National Academy of Sciences on Jan. 23, 2023, a team of scientists from Frederick National Laboratory for Cancer Research and the University of California, San Francisco (UCSF) described how neurofibromin 1 (NF1) missense mutations act in a dominant negative manner through dimerization with wild-type neurofibromin.
Decibel Therapeutics Inc. has received clearance of its clinical trial application (CTA) by the U.K.'s Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a phase I/II trial of gene therapy DB-OTO in pediatric patients with congenital hearing loss due to an otoferlin deficiency.
An analysis of more than 1,000 small molecules has identified dozens of compounds that could be effective to treat Marfan syndrome (MFS), an inherited disorder affecting connective tissue, primarily in the heart and blood vessels, the skeleton, and the eyes. In particular, the researchers from Cambridge University found that glycogen synthase kinase-3β (GSK-3β) could be a target to develop new therapies based on its inhibition.
A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
“Short-lived organisms represent a fundamentally different evolutionary strategy, and the idiosyncrasies influencing their aging may not apply to longer-lived models, including humans,” researchers from Harvard Medical School wrote in the Jan. 11, 2023, issue of Science Advances.
In their paper, the authors reported insights into the genomics of longevity that took advantage of an unusual animal model: rockfish.
Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.