Rare diseases are often caused by defects in genetic material. If children inherit a defective gene from only one parent, they often are asymptomatic "carriers"—or at least that was the previous assumption. However, a research ...
May 23, 2023
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New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.
May 9, 2023
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Scientists at the University of Liverpool have figured out how mutations in a gene called FBXL4 can lead to an excess of mitophagy—the disposal of mitochondria, the 'power stations' within nearly all human cells.
May 4, 2023
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A genetic test developed in a study at the University of Helsinki and Helsinki University Hospital identifies ovarian cancer patients who benefit from PARP inhibitors, a treatment option.
Jan 11, 2023
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In a new study published in Circulation: Genomics & Precision Medicine, Mayo Clinic researchers designed and developed the first suppression-replacement KCNH2 gene therapy for correcting both long QT syndrome (LQTS) and short ...
Nov 21, 2022
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The innate immune system fights infectious agents, and the alarm messenger interferon plays a central role in this. However, if interferon is produced in the absence of an infection, it can lead to autoimmune diseases. Researchers ...
Nov 8, 2022
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Scientists have shown how stomach cancers can dodge the effects of a promising new experimental treatment—raising the possibility of outsmarting cancer by predicting drug resistance in advance.
Oct 25, 2022
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Hereditary primary haemochromatosis is one of the most common inborn errors of metabolism in Europe. In this disorder, also known as iron storage disease, the body is overloaded with iron. The excess iron accumulates in organs ...
Oct 21, 2022
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Babies with leukemia could get an array of new treatments after scientists used genetic engineering to reproduce a gene defect found in the disease.
Oct 7, 2022
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An Undiagnosed Diseases Network (UDN) study led by Dr. Hugo Bellen, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital and distinguished service professor at the Baylor ...
Oct 4, 2022
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