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Home » Topics » Genetic/congenital, BioWorld Science

Genetic/congenital, BioWorld Science
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A DNA double helix rests on a print-out illustration of the DNA  base pair letters A, T, C and G.
Biomarkers

New causative gene for Perrault syndrome identified

June 7, 2024
At the ESHG meeting in Berlin, a novel causative gene for Perrault syndrome was presented by a researcher from the University of Manchester. Perrault syndrome is a rare autosomal recessive disease characterized by sensorineural hearing loss and primary ovarian insufficiency.
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Cancer

Relay Therapeutics discloses new genetic disease and oncology programs

June 6, 2024
Relay Therapeutics Inc. has disclosed three new programs from its existing preclinical pipeline, including two novel programs from its genetic disease portfolio and a potentially first-in-class NRAS-selective inhibitor.
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Human body skeleton with DNA science background art
Musculoskeletal

Blueprint’s work behind drug for fibrodysplasia ossificans progressiva

June 5, 2024
By Xavier Bofill Bruna
Fibrodysplasia ossificans progressiva is a rare and life-threatening genetic disease caused by gain-of-function mutations in the ALK2 gene, which encodes activin receptor-like kinase 2. Blueprint Medicines Corp. has elucidated the discovery of their ALK2 inhibitor BLU-782, which is now in phase II studies at Ipsen for the treatment of FOP.
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Eye and DNA
Biomarkers

NDUFA7 identified as new disease gene in Leber’s hereditary optic neuropathy

June 5, 2024
Researchers from Landeskrankenhaus Salzburg (SALK) - Universitätsklinikum der PMU have identified a novel loss-of-function variant in the NDUFA7 gene in a patient with Leber’s hereditary optic neuropathy (LHON).
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Two silhouettes with tangle, gear, spiral
Neurology/psychiatric

Dissecting post-traumatic stress disorder and depression

May 28, 2024
By Mar de Miguel
Scientists from the PsychENCODE Consortium have analyzed the brain transcriptome in a coordinated series of studies to map all the cell types, genes, epigenetic factors, and molecular pathways involved in different psychiatric disorders. After a first set of projects based on bulk analysis, the second phase of this project included 14 simultaneous publications that revealed the cellular atlas of post-traumatic stress disorder (PTSD) and major depressive disorder (MDD), among others.
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Genetic/congenital

AAV9-CTNNB1 gene therapy restores β-catenin expression and function in CTNNB1 syndrome

May 23, 2024
CTNNB1 syndrome is a rare neurodevelopmental disorder that is caused by mutations in the gene encoding β-catenin, CTNNB1, which plays a critical role in neuronal development, synapse formation and brain maturation.
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Scissors and gold DNA on black blackground
Genetic/congenital

Gene-editing therapeutic YOLT-202 shown to restore α1-antitrypsin deficiency

May 22, 2024
α1-Antitrypsin deficiency is a hereditary disorder that affects the liver in children and adults, as well as the lungs in adults. The disease is mostly caused by the Z allele mutation in the SERPINA1 gene, where a glutamic acid amino acid is substituted by lysine (E342K) leading to protein misfolding and aggregation.
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Nervous system illustration
Genetic/congenital

Cellatoz’s CLZ-2002 restores nerve myelination in preclinical Charcot-Marie-Tooth disease

May 22, 2024
Many patients with peripheral nerve diseases do not have a sufficient regenerative response because of genetic inheritance, infections or chronic disease, leading them to lifelong pain and disability.
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Drug R&D concept image.
Endocrine/metabolic

Intracerebroventricular ERT for MPS IIIA receives IND clearance in US

May 21, 2024
The FDA has cleared an IND application for GC-1130A, a treatment for mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) being jointly developed by GC Biopharma Corp. and Novel Pharma Inc.
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AI-generated image of astrocytes
Neurology/psychiatric

Astrocyte Kir4.1 channels altered in fragile X syndrome

May 21, 2024
Correcting the deficiency of potassium intake in astrocytes could improve the symptoms of fragile X syndrome (FXS).
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