Rare diseases, as the name indicates, only affect a small part of the population. However, for those affected they are particularly challenging, often especially because research into such rare diseases tends to be less of ...
Aug 2, 2022
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A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...
Aug 1, 2022
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Genetic mutations which cause a debilitating hereditary kidney disease affecting children and young adults have been fixed in patient-derived kidney cells using a potentially game-changing DNA repair-kit. The advance, developed ...
Jul 29, 2022
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Similar to Alzheimer's disease, the hereditary disease spinocerebellar ataxia type 17 (SCA17) leads to the destruction of brain nerve cells and the premature death of patients. The exact mechanisms of this disease are unknown, ...
Jun 21, 2022
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A new genetic discovery adds weight to a theory that motor neurone degenerative diseases are caused by abnormal lipid (fat) processing pathways inside brain cells. This theory will help pave the way to new diagnostic approaches ...
Jun 20, 2022
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Regular episodes of severe pains in the abdomen and mysterious swellings had become the new normal for Yuki—for 20 years. Finally, she was diagnosed with a rare disease, hereditary angioedema (HAE), and given a specialized ...
Apr 19, 2022
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Hereditary diseases as well as cancers and cardiovascular diseases may be associated with a phenomenon known as genomic imprinting, in which only the maternally or paternally inherited gene is active. An international research ...
Jan 12, 2022
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Using cutting-edge genetic engineering, UZH researchers have developed a model to study hereditary kidney disease with the help of tropical frogs. The method allows them to collect large amounts of data on anomalies, which ...
Nov 5, 2021
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Scientists at the Institute for Research in Biomedicine (IRB Barcelona), in collaboration with the Centre for Genomic Regulation (CRG) and Radboud University, have developed an algorithm that can predict which cancer patients ...
Oct 30, 2019
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(HealthDay)—HFE p.C282Y homozygosity, the most common gene mutation causing hereditary hemochromatosis (type 1), is associated with other morbidity in men and women, according to a study published online Jan. 16 in The ...
Jan 17, 2019
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