Tyra Biosciences Inc. is expanding development of TYRA-300 into achondroplasia based on promising preclinical results from a study conducted in collaboration with the Imagine Institute. A specific mutation in fibroblast growth factor receptor 3 (FGFR3) causes over 97% of achondroplasia.
Mucopolysaccharidosis type IIIA (MPS IIIA) is a genetic disorder where mutations in SGSH lead to the accumulation of heparan sulfate (HS) and lysosomal dysfunction that translate into developmental delay and cognition decline in humans. To date, there is no cure for MPS IIIA and that is why finding new strategies is an urgent need.
Gray platelet syndrome is an autosomal recessive platelet disorder characterized by macrothrombocytopenia and deficiency or decreased levels of alpha granules that confer a grayish appearance to the platelets. The genetic cause is located at chromosome locus 3p21, affecting the NBEAL2 gene.
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.
Recently, it has been found that loss-of-function of TPC2 alkalized melanosomes promoted pigmentation, while gain-of-function of TPC2 acidified melanosomes and inhibited melanin synthesis.
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