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Genetics news

Genetics

Scientists unravel genetic basis for neurodegenerative disorders that affect vision

Led by researchers at the National Institutes of Health (NIH), a team of scientists has uncovered the complex molecular mechanisms underlying neurodegenerative disorders linked to the gene PNPLA6, which encompass a range ...

Genetics

Researchers identify causative gene in mouse model of inherited lethal arrhythmia

A research group led by University of Tsukuba has discovered a mouse pedigree that presents spontaneous sudden cardiac death attributed to inherited ventricular arrhythmia. This was identified through electrocardiographic ...

Oncology & Cancer

Researchers identify new marker for breast cancer prognosis

A protein called retinitis pigmentosa GTPase regulator interacting protein 1-like (RPGRIP1L) performs various functions that are important for development and for health throughout life, and mutations in the RPGRIP1L gene ...

Genetics

Machine learning sheds light on gene transcription

A team led by researchers at UT Southwestern Medical Center has developed deep learning models to identify a simple set of rules that govern the activity of promoters—regions of DNA that initiate the process by which genes ...

Genetics

Over 20,000 people join UK search for new dementia treatments

More than 20,000 volunteers have been recruited to a resource aimed at speeding up the development of much-needed dementia drugs. The cohort will enable scientists in universities and industry to involve healthy individuals ...

Genetics

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, ...

Oncology & Cancer

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 ...

Genetics

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 ...

Oncology & Cancer

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 ...

Genetics

Mosaics of predisposition found to cause skin disease

Clarifying the cause of a skin disease had led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic ...