Autor: Clinical genetics
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i-DNA ‘peek-a-boo structures’ form in living cells and regulate genes linked to cancer
DNA’s iconic double helix does more than «just» store genetic information. Under certain conditions, it can temporarily fold into unusual shapes. Researchers at Umeå University, Sweden, have now shown that one such structure, known as i-DNA, not only f…
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Genetic testing in sports: Fairness, human rights and the law
Testing the biological sex of an athlete is becoming more common in sport, with governing bodies defending the practice as safeguarding fairness for women. But as the introduction of mandatory genetic testing raises questions about human rights, it cou…
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What a new twins study reveals about genes, environment and longevity
Why do some people live to 100 while their sibling dies decades earlier? Is it luck, lifestyle, or something written into their DNA? Relative to many other species, humans are particularly long-lived, but there is an ongoing argument about how much of …
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Understanding the path from genetic changes to Parkinson’s disease opens possibilities for early diagnosis
A team led by researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital has uncovered a chain of events that connects genetic alterations, disruptions in lipid metabolism and the …
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Tiny ‘mini-me’ organs grown from children’s cells are transforming cystic fibrosis care
When UNSW Associate Professor Shafagh Waters explains cystic fibrosis (CF) to the children she works with, she asks them to imagine what is happening inside their own bodies. «I tell them to picture an airport,» she says. «There’s a gate at the surface…
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Genetic study shows that anxiety disorders have many causes
About 1 in 4 people suffer from an anxiety disorder at some point in their lives. These include panic disorder with sudden, severe anxiety attacks; generalized anxiety disorder, in which sufferers worry about everyday things over a longer period of tim…
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Five mutational ‘fingerprints’ could help predict how visible tumors are to the immune system
Researchers from the HUN-REN Szeged Biological Research Centre and HCEMM have just published a new study suggesting that it’s not simply the number of tumor mutations that matters for immunotherapy, but the kind of mutation patterns they create. The te…
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Gene-editing therapy proves effective for Leber’s hereditary optic neuropathy
A research team has successfully demonstrated the world’s first gene-editing treatment for Leber’s hereditary optic neuropathy (LHON). The study was conducted in collaboration with the Seoul National University College of Veterinary Medicine and Edgene…
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Hereditary disease CADASIL linked to changes in brain energy and blood vessels
A new study from Karolinska Institutet shows that damage to small blood vessels in the hereditary disease CADASIL may disrupt important brain functions in the hippocampus, a region involved in memory. The findings help explain why many people with CADA…
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Nine-gene biomarker paves way for tailored psoriasis treatments
Psoriasis is a common inflammatory skin disease linked to several long-term health conditions, such as heart disease, arthritis and type 2 diabetes, and has a substantial impact on sufferers’ quality of life. Although the World Health Organization has …