A rare disorder that causes babies to be born with extra fingers and toes and a range of birth defects has been identified in new research co-led by the University of Leeds.
Jan 30, 2024
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There are over 7,000 different rare genetic diseases, and often it can be a significant challenge and take a long time to receive a correct diagnosis.
Jan 25, 2024
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A team from the Institute of Human Genetics at the University Hospital Schleswig-Holstein (UKSH), the Faculty of Medicine at Kiel University and the University of Lübeck has developed an algorithm that uses machine learning ...
Jan 17, 2024
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Within our brain cells, there exists a highway system of tube-like structures called microtubules. They give the cell structure and help transport nutrients and other important substances from one part of the nerve cells ...
Jan 16, 2024
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An international collaborative study has recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder.
Jan 4, 2024
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Scientists attacking the problem of high miscarriage rates have long wondered if there is a way to tell whether an egg cell will successfully develop into an embryo and grow or if there is a marker indicating when it is destined ...
Dec 5, 2023
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Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals' genetic ancestry. PKU causes an amino acid—called phenylalanine (Phe)—to build ...
Nov 2, 2023
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While any two human genomes are about 99.9% identical, genetic variation in the remaining 0.1% plays an important role in shaping human diversity, including a person's risk for developing certain diseases.
Oct 26, 2023
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A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas ...
Oct 13, 2023
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The discovery of eight new genes associated with a disease known as ossification of the posterior longitudinal ligament of the spine (OPLL) is a key step toward the development of effective treatments for this currently incurable ...
Oct 6, 2023
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