Autor: Clinical genetics
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Huntington’s disease offers a rare clean test case for brain research
Neuroscience rarely enjoys clean experiments. Most brain disorders are mosaics of risk genes, aging, lifestyle and chance that leave their origins obscured. Huntington’s disease (HD) is different. It begins with a single genetic expansion—a repeated st…
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How age, sex and genetics shape our antibodies
Age, biological sex, and human genetic factors influence the production of antibodies during the immune response. A team of scientists from the Institut Pasteur, the CNRS and the Collège de France have shown that these factors determine not only the qu…
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Disease patterns found to vary with genetic ancestry for Hispanic patients with IBD
Hispanic patients with inflammatory bowel disease (IBD) have varying disease patterns depending on their genetic ancestry, according to a study published online Feb. 9 in Gastroenterology.
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Study splits schizophrenia genetic risk into two pathways, one shared with bipolar disorder
A new study by researchers at King’s College London has split schizophrenia risk into two genetically distinct pathways. One is characterized by a shared genetic risk with bipolar disorder and associated with higher educational attainment, and another …
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A genetic brake that forms our muscles: Variant linked to endurance may also raise odds of injury
In an international study, researchers at Lund University in Sweden have identified a gene variant that controls the body’s capability to form new blood vessels in muscles—a mechanism that affects physical performance, health and recovery. The favorabl…
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Aortic stenosis: 200 newly identified genes raise hope for future treatments
A new study on aortic stenosis, the most common form of heart valve disease, has identified more than 200 new genes that predispose individuals to this condition, for which no treatment currently exists. The discovery of these genes, some of which are …
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KRAS mutation type may guide more effective cancer treatments
KRAS is the most frequently mutated oncogene across all human cancers. Although different KRAS mutations have long been thought to exert the same cancer-driving effects, a new study led by UT Southwestern Medical Center researchers suggests that differ…
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Big data and human height: Scientists develop algorithm to boost biobank data retrieval and analysis
Extracting and analyzing relevant medical information from large-scale databases such as biobanks poses considerable challenges. To exploit such «big data,» attempts have focused on large sampling algorithms that model individual data points. However, …
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Largest study of rare skin cancer in Mexican patients shows that it is more complex than previously thought
Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, with important implications for diagnosis and treatment, according to researchers at the Wellcome Sanger Institute, National Au…
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Nanoparticle-based gene editing could expand treatment options for cystic fibrosis
UCLA researchers have developed a lipid nanoparticle-based gene-editing approach capable of inserting an entire healthy gene into human airway cells, restoring key biological function in a laboratory model of cystic fibrosis and establishing a potentia…