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20-Aug-2020 - ETH Zurich scientists have developed an RNA molecule that can be used in bone marrow cells to correct genetic errors that affect protein production. Patients suffering from a rare hereditary disease that causes a painful hypersensitivity to sunlight could benefit in future. Short RNA molecules ...
Researchers discover new pathomechanism of hereditary diseases in cell condensates
11-May-2020 - Repeats of individual building blocks within proteins are the cause of many hereditary diseases, but how such repeats actually cause disease is still largely unknown. Researchers in Berlin investigated how repeat elongations lead to the disease synpolydactyly, and have found that the attractive ...
11-Jun-2019 - Every year, around half a million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming. In a study of 679 patients with 105 different rare diseases, scientists from the University of Bonn and the Charité - ...
14-Dec-2017 - Mitochondria generate most of the energy cells need through a respiratory chain for which they must produce their own proteins. The research group of Associate Professor Henna Tyynismaa, University of Helsinki, Finland, has discovered a "quality control" mechanism in the mitochondria, which is ...
Rare genetic disorders: new approach uses RNA in search for genetic triggers
14-Jun-2017 - In about half of all patients with rare hereditary disorders, it is still unclear what exact position of the genome is responsible for their condition. One reason for this is the enormous quantity of information encoded in human genes. Scientists from the fields of informatics and medicine have ...
22-May-2017 - After decades of research aiming to understand how DNA is organized in human cells, scientists at the Gladstone Institutes have shed new light on this mysterious field by discovering how a key protein helps control gene organization. Humans have nearly 30,000 genes that determine traits from eye ...
13-Jan-2017 - One of the most talked about biological breakthroughs in the past decade was the discovery of the genome editing tool CRISPR/Cas9, which can alter DNA and potentially remove the root causes of many hereditary diseases. Originally found as part of the immune system of the Streptococcus pyogenes ...
27-Jul-2016 - The congenital disease favism causes sickness and even jaundice in patients after they consume beans. The culprit is a particular enzyme deficiency, which destroys the red blood cells. Scientists from the University Children’s Hospital Zurich have now discovered that, in the event of a severe or ...
27-Mar-2014 - A team of scientists, led by Stuart Lipton, M.D., Ph.D., professor and director of the Neuroscience and Aging Research Center at Sanford-Burnham Medical Research Institute (Sanford-Burnham), recently discovered why cerebellar granule cell neurons in patients suffering from ataxia-telangiectasia ...
29-Jan-2014 - A new method allows for large-scale generation of human embryonic stem cells of high clinical quality. It also allows for production of such cells without destroying any human embryos. The discovery is a big step forward for stem cell research and for the high hopes for replacing damaged cells ...
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