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Home » Topics » Disease categories and therapies » Genetic/congenital

Genetic/congenital
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Genetic/congenital

CHK2 inhibition alleviates photoreceptor degeneration in preclinical Bardet-Biedl syndrome

March 13, 2025
Bardet-Biedl syndrome (BBS) is a ciliopathy that leads to progressive blindness due to degeneration of cone photoreceptors, but the mechanisms behind this are not well understood. The syndrome is associated with obesity, polydactyly, cardiovascular disease and skeletal abnormalities, among others, and it is caused by genetic variants in the BBS10 gene in about 40% of the cases.
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Brain and DNA
Biomarkers

De novo mutations in PPP2R5C cause neurodevelopmental disorder

March 10, 2025
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
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Mouse genome/DNA sequencing concept art.
Genetic/congenital

Researchers develop novel Kabuki syndrome murine model

March 7, 2025
Lysine demethylase 6A (KDM6A) is a demethylase that plays a key role at regulating developmental gene expression signatures in several tissues, including neuronal cells. The KDM6A gene is located in chromosome X and pathogenic variants in this gene are tied to Kabuki syndrome type 2. Even though progress in understanding the functions of KDM6A has been made, its role in cochlear development and auditory function remains poorly understood.
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Group of kids, faces huddled together
Genetic/congenital

UK releases three decades of children’s genomic data

March 5, 2025
By Nuala Moran
The U.K. has released a huge repository of children’s genomic data after sequencing blood samples from three large cohorts recruited at birth and followed across three decades. The power of the data is amplified by the large volume of longitudinal health information, biological samples and responses to surveys and questionnaires that has been provided by participating families. Before this, large-scale publicly available genome sequences were limited to adult cohorts, and the only childhood genome sequence data was from children with rare diseases.
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Infant legs and feet
Gastrointestinal

Neurenati’s NEU-001 awarded orphan drug designation for Hirschsprung disease

March 5, 2025
Neurenati Therapeutics Inc.’s NEU-001 has been awarded U.S. orphan drug and rare pediatric disease designations by the FDA for the treatment of Hirschsprung disease.
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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.
Genetic/congenital

UK research effort finds 141 new rare disease-gene associations

March 3, 2025
By Nuala Moran
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
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Mitochondria
Genetic/congenital

For therapeutic hypoxia, small molecule can mimic mountain trip

Feb. 28, 2025
By Anette Breindl
Too much of a good thing, it turns out, is a concept that applies to oxygen. And researchers at the University of California at San Francisco are working on a small molecule, Hypoxystat, that can lower tissue oxygen levels and prevent damage when oxygen levels are too high. When administered to mice with the rare mitochondrial disorder Leigh syndrome, the molecule more than tripled their average lifespan.
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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.
Genetic/congenital

UK research effort finds 141 new rare disease-gene associations

Feb. 27, 2025
By Nuala Moran
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations.
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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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