Shwachman-Diamond syndrome (SDS) is a rare disease of ribosome biogenesis affecting multiple systems, with predominant manifestations being exocrine pancreatic insufficiency, bone marrow failure and leukemia predisposition, among others.
The intended use of gene editing tools on pre-implantation human embryos would be to avoid the development of congenital diseases in the upcoming baby. But it may have its own risks. Those risks were illustrated in a publication in the March 7, 2023, issue of Nature Communications, where researchers from the Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University (OHSU) showed that the method that is most frequently used for evaluating the effects of gene editing zygotes did not always result in an accurate picture of those edits.
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.
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