A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder, and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, ...
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A team of clinician-scientists have conducted the largest study done to date of BRCA1 and BRCA2 (BReast CAncer Gene 1 and 2) carriers in an Asian population and refined breast and ovarian cancer risk estimates for this population. ...
1 hour ago
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A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers that could identify patients ...
1 hour ago
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There has been a breakthrough in the research on the disease amyotrophic lateral sclerosis (ALS). Scientists at Umeå University report that the disease progression in a patient with a particularly aggressive form of ALS ...
2 hours ago
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In a new analysis of genetic susceptibility to kidney cancer, an international team of researchers has identified 50 new areas across the genome that are associated with the risk of developing kidney cancer. These insights ...
3 hours ago
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A new study highlights possible cardiovascular health advantages in individuals with a rare condition known as growth hormone receptor deficiency (GHRD), also called Laron syndrome.
4 hours ago
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A new paper by Dana-Farber Cancer Institute scientists lays the foundation for targeted therapies to inhibit the activation of nuclear factor kappa B (NF-κB), a transcription factor that plays a role in various autoimmune ...
23 hours ago
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Shutting down a gene called PRMT5 stopped metastatic estrogen receptor-positive (ER+) breast cancer cells from growing after they acquired resistance to a standard therapy known as CDK4/6 inhibitors, UT Southwestern Medical ...
Apr 25, 2024
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A team of researchers at Johannes Gutenberg University Mainz (JGU) has identified a mechanism that causes mitochondrial dysfunction in Alzheimer's patients resulting in a reduction of the supply of energy to the brain.
Apr 25, 2024
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In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) ...
Apr 25, 2024
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