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BioWorld - Friday, March 27, 2026
Home » Topics » Genetic/congenital, BioWorld Science

Genetic/congenital, BioWorld Science
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Ear, nose and throat

Restoring GJB2 expression rescues hereditary hearing loss

Feb. 26, 2025
The most common form of hereditary deafness in humans is caused by mutations in the GJB2 gene, which encodes the gap junction protein connexin 26. That regulates the transport of potassium and metabolites between inner ear cells. The coding sequence of this gene fits in an adenovirus-associated vector (AAV), making it an attractive approach for gene therapy.
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Electron microscopy of E. coli bacteria.
Genetic/congenital

Eliminating redundancies opens up possibilities for protein engineering

Feb. 24, 2025
By Anette Breindl
Researchers have altered the genetic code in a strain of Escherichia coli, reducing the number of stop codons from three to one and assigning the freed-up stop codons to nonstandard amino acids. They reported on the recoded bacterium, which they named OCHRE, in Nature on Feb. 5, 2025.
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EVO1 diagram
Drug design, drug delivery & technologies

Evo 2 AI allows genome and epigenome modeling of all life domains

Feb. 21, 2025
By Mar de Miguel
A new version of Evo, the AI developed at the Arc Institute that can be used to design genomes as long as that of a bacterium, has been retrained with the DNA sequences of three domains of life – viruses, bacteria and eukaryotes.
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Drug R&D concept image.
Immune

Ensoma’s EN-374 designated orphan drug for X-linked chronic granulomatous disease

Feb. 14, 2025
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.
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Illustration of blood vessel that isn't clotting due to hemophilia
Hematologic

E-Therapeutics reports successful pan-hemophilia treatment

Feb. 10, 2025
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.
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Genetic/congenital

New prophylactic immunomodulation for upcoming 4D-310 trials presented

Feb. 10, 2025
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.
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Art concept for gene therapy research
Endocrine/metabolic

Entos awarded CIRM grant to advance ENTLEP-001 for congenital generalized lipodystrophy

Feb. 6, 2025
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.
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Illustration of a pink head and blue head
Neurology/psychiatric

The brain ages and survives differently in females and males

Jan. 29, 2025
By Mar de Miguel
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.
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Illustration of DNA, magnifying glass
Biomarkers

DAP3 gene behind Perrault syndrome, study finds

Jan. 23, 2025
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).
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Red blood cells on blue background
Hematologic

Lentiviral vector improves anemia and iron metabolism in new model for X-linked sideroblastic anemia

Jan. 22, 2025
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.
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