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Genetics news
Genetics
After 25 years, researchers uncover genetic cause of rare neurological disease
Some families call it a trial of faith. Others just call it a curse. The progressive neurological disease known as spinocerebellar ataxia 4 (SCA4) is a rare condition, but its effects on patients and their families can be ...
37 minutes ago
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Scientists report that new gene therapy slows down amyotrophic lateral sclerosis disease progression
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 ...
Apr 26, 2024
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Analysis identifies 50 new genomic regions associated with kidney cancer risk
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 ...
Apr 26, 2024
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Gene linked to epilepsy and autism decoded in new study
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, ...
Apr 26, 2024
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Study finds biomarkers for psychiatric symptoms in patients with rare genetic condition 22q
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 ...
Apr 26, 2024
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Study supports gene-directed management of BRCA1 and BRCA2 gene carriers in Singapore
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. ...
Apr 26, 2024
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Study finds RNA modification is responsible for disruption of mitochondrial protein synthesis in Alzheimer's disease
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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Blocking gene may halt growth of breast cancer cells
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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Genetic variations may predispose people to Parkinson's disease following long-term pesticide exposure, study finds
A new UCLA Health study has found that certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease.
Apr 25, 2024
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Using AI to improve diagnosis of rare genetic disorders
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...
Apr 25, 2024
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Researchers publish final results of key clinical trial for gene therapy for sickle cell disease
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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Study uncovers drug target in a protein complex required for activation of NF-κB
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 ...
Apr 25, 2024
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Experts call for global genetic warning system to combat the next pandemic and antimicrobial resistance
The COVID-19 pandemic turned the world upside down. In fighting it, one of our most important weapons was genomic surveillance, based on whole genome sequencing, which collects all the genetic data of a given microorganism. ...
Apr 25, 2024
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Genetic association study opens up new treatment avenues for Pick's disease, a rare form of early-onset dementia
Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes ...
Apr 24, 2024
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Immune cells on standby are constantly stimulated by healthy tissue, new study finds
When pathogens invade the body, the immune system must react immediately to prevent or contain an infection. But how do our defense cells stay ready when no attacker is in sight?
Apr 24, 2024
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Researchers identify novel gene networks associated with aggressive type of breast cancer
Breast cancer is the second-most common cancer diagnosis for U.S. women, and the second-leading cause of female cancer deaths. In recent years, breast cancer treatments have improved significantly, thanks to targeted gene ...
Apr 24, 2024
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Genetics predict type 2 diabetes risk and disparities in childhood cancer survivors
Survivors of childhood cancer are at increased risk for cardiovascular disease, for which a risk factor is their greater prevalence of type 2 diabetes, with a disproportionate impact on those of non-European heritage. St. ...
Apr 24, 2024
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Discovering cancers of epigenetic origin without DNA mutation
A research team including scientists from the CNRS has discovered that cancer, one of the leading causes of death worldwide, can be caused entirely by epigenetic changes, in other words, changes that contribute to how gene ...
Apr 24, 2024
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Researchers uncover SNUPN gene responsible for a new muscular disorder
A study, published in Nature Communications, sheds light on a newly identified subtype of muscular dystrophy, revealing an unsuspected role of SNUPN gene in muscle cell function.
Apr 24, 2024
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