There are only 25 people in the whole of Quebec at the moment who have a rare recessive genetic disease called chronic atrial and intestinal dysrhythmia (CAID). It is a serious disease that affects both heart rate and intestinal ...
Dec 6, 2018
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An international team of scientists have confirmed that both rare and common mutations of our genes are linked to the development of breast cancer, including tumour characteristics and corresponding deadliness. Interestingly, ...
Nov 2, 2018
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A mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other ...
Apr 9, 2024
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Movie star Angelina Jolie tested positive for a "faulty gene" at the center of a high-profile legal battle in the United States that challenges whether human genes can belong to a corporation.
May 16, 2013
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Researchers have identified a new gene that may increase a person's risk of developing ALS (Amyotrophic Lateral Sclerosis), according to a new study published in the June 16, 2021, online issue of Neurology, the medical journal ...
Jun 16, 2021
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A study of young men with COVID-19 has revealed a genetic variant linked to disease severity.
Mar 23, 2021
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Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult. Current predictive models are useful for interpreting those ...
Apr 21, 2023
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Inhibitors of the protein EZH2 are effective against cancers with SMARCB1 mutations such as rhabdoid tumors in children. However, these drugs are subject to treatment resistance. Scientists at St. Jude Children's Research ...
May 9, 2022
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A team of scientists from the University of Granada (UGR) and GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research—led by Pablo Roman-Naranjo and Jose Antonio López-Escámez, ...
Dec 1, 2021
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Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) have found a new genetic marker that would explain up to 1.4 percent of inherited colon cancer cases not related to mutations currently associated with ...
Oct 11, 2017
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