Pathogenic variants in BRCA1/2 genes are associated with an increased risk of breast and ovarian cancer in adults, and variants in mismatch repair (MMR) genes increase the risk of gastrointestinal and other cancers. Until ...
Aug 24, 2022
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In a series of articles published in the journal Nature Genetics, researchers have used data from the SPARK (Simons Powering Autism Research) research cohort, which was created to advance our understanding of the complex ...
Aug 18, 2022
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In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene—one from each parent—were ...
Aug 16, 2022
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As SARS-CoV-2 has evolved and mutated, therapeutic antibodies that worked early in the pandemic have become less effective, and newer variants, especially omicron, have developed ways to evade the antibodies we make in response ...
Aug 11, 2022
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Gene therapies aim to cure severe, barely treatable monogentic diseases caused by a defect in a single gene. Medical hopes are correspondingly high. Some gene therapies have already been approved in Europe—for example, ...
Aug 2, 2022
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An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused ...
Jul 12, 2022
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An international team of researchers has identified multiple X chromosomes that likely contribute to infertility in men. In their paper published in The American Journal of Human Genetics, the researchers describe how they ...
Kidney cancer accounts for only 4% of all cancers in the United States; however, its incidence has more than doubled since 1975, with the most common type being clear cell renal cell carcinoma. While outcomes of patients ...
Jul 8, 2022
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How long someone lives with Parkinson's disease may be down to specific gene mutations, according to new research presented today at the Eighth European Academy of Neurology (EAN) Congress.
Jun 27, 2022
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New research from the Victor Chang Cardiac Research Institute will allow families around the world to discover if they are carrying genetic mutations that cause sudden cardiac arrest—a condition that kills 9 out of 10 victims.
Jun 9, 2022
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