In a commentary published today in Genetics in Medicine, Heidi Rehm, PhD, highlights the pressing need for standardized human genomic variant interpretation and calls on more stakeholders to join the data sharing movement. “It is time we considered the sharing of variant interpretations a fundamental right of patients to ensure that they receive accurate clinical care,”...
Category: <span>Genetics</span>
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Two new genes linked to Alzheimer’s risk
A team of researchers led by Cardiff University has identified two genes that influence a person’s risk of developing Alzheimer’s disease. The new finding, which builds on the team’s previous work of identifying 24 susceptibility genes, enables a better understanding of the mechanisms underlying the disease and offers further hope in developing new treatments. Dr...
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Large multi-ethnic study identifies many new genetic markers for lupus
Scientists from an international consortium have identified a large number of new genetic markers that predispose individuals to lupus The study is published in the July 17 issue of the journal Nature Communications and was led by researchers at Wake Forest Baptist Medical Center, Oklahoma Medical Research Foundation, King’s College of London and Genentech Inc. Autoimmune diseases...
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How Does the New ‘Gene-Altering’ Therapy Fight Cancer?
A new type of cancer treatment that involves altering a person’s genes — and could save children’s lives — passed a major hurdle this week, when a U.S. Food and Drug Administration (FDA) panel recommended that the agency approve the therapy, The New York Times reported. But how does the treatment work? The treatment is for...
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Key immunological mechanism for regulating intestinal flora discovered
Researchers at the Hospital del Mar Medical Research Institute (IMIM) have shown for the first time that immunoglobulin M, secreted by the human intestine, plays a key role in maintaining the diversity of intestinal flora by including and maintaining microorganisms that are beneficial to health. These results have been published in the journal Immunity. “We have...
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Breathing in a new gene therapy to treat pulmonary hypertension
Mount Sinai has partnered with Theragene Pharmaceuticals, Inc. to advance a novel airway-delivered gene therapy for treating pulmonary hypertension (PH), a form of high blood pressure in blood vessels in the lungs that is linked to heart failure. If the therapy succeeds in human clinical trials, it will provide patients for the first time with...
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The fork in the road to DNA repair
Japanese researchers from Osaka University have uncovered a way in which our cells regulate the repair of broken DNA. Their results, published in the journal “Cell Reports,” show a common molecule regulates multiple repair mechanisms and help shed light on how the cell maintains the integrity of the human genome when it is damaged. The...
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Study reveals cells can be reprogrammed to repair severe liver injury
A new study has revealed that bile duct cells can switch to become normal liver cells to help repair the liver after severe damage. Understanding how this back-up system is controlled could pave the way for new liver therapies, say the scientists from the Medical Research Council (MRC) Centre for Regenerative Medicine at the University...
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New gene therapy treatment routes for motor neurone disease uncovered in new study
Scientists investigating the genetic causes and altered functioning of nerve cells in motor neuron disease (MND) have discovered a new mechanism that could lead to fresh treatment approaches for one of the most common forms of the disease. The team, based in the Sheffield Institute for Translational Neuroscience (SITraN), investigated a mutation in one particular...
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10 Years of GWAS Discovery: Biology, Function, and Translation
Main Text Introduction Here, we review the remarkable range of discoveries that genome-wide association studies (GWASs) have facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics. In the introductory sections, we provide a background for this review, summarize its scope and layout, and revisit the scientific rationale for GWASs....