Ensoma Inc.’s lead program, EN-374, has been granted orphan drug and rare pediatric disease designations by the FDA for the treatment of X-linked chronic granulomatous disease. Ensoma anticipates filing an IND application for EN-374 in the first half of this year.
Researchers at E-Therapeutics plc recently presented efficacy and safety data on ETX-148, a pan-hemophilia agent in murine models of hemophilia A and B.
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA), which leads to complex multisystemic involvement, with the majority of patients developing hypertrophic cardiomyopathy.
Entos Pharmaceuticals Inc. has been awarded a $4 million grant by California Institute for Regenerative Medicine (CIRM) to support the completion of IND-enabling activities with ENTLEP-001, a durable genetic medicine for the treatment of congenital generalized lipodystrophy.
The way the brain ages is not the same in women and men. A study in mice has observed differences in the expression of the maternal and paternal X chromosomes that could explain variation in brain aging between the sexes and a faster deterioration in some women. Another study has discovered different survival strategies in the microglial cells of females and males. Both studies highlight sex differences that could have implications for several age-related neurological disorders, such as Alzheimer’s or Parkinson’s.
Mitoribosomes are present in the mitochondria of all eukaryotic cells. Their function is to allow the translation of mitochondrial mRNA that exclusively encodes components of the oxidative phosphorylation complexes (OXPHOS).
X-linked sideroblastic anemia (XLSA) is a rare genetic disorder caused by mutations in the ALAS2 gene, which plays a critical role in heme biosynthesis within red blood cells.
Researchers from Tel Aviv Sourasky Medical Center presented data from a study that aimed to investigate the genetic mechanisms underlying yellow nail syndrome (YNS), a rare disorder characterized by three features, namely yellow dystrophic nails, lymphedema and chronic lung disease.
Having 35 copies of the CAG triplet in the gene that causes Huntington’s disease is not a problem. Inheriting 40 could be a sign that goes unnoticed for decades, until reaching 80. From there, the process accelerates and neural death occurs when reaching 150 repeats. Huntington’s disease neurodegeneration is not determined by what, but by how much, according to a study conducted at the Broad Institute.
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