In the two decades since the human genome was first sequenced, scientists have learned much about how the genome is organized and how widely it varies between people around the globe. A better view of how that genetic variation influences…
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CDC and ClinGen partner to develop expert curated variant list for the genomic community
The Centers for Disease Control and Prevention's (CDC) Genetic Testing Reference Material Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 expert curated pathogenic variants in 84 genes for use in…
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Genetic testing of the siblings of newborns with cancer genes could reduce rare pediatric cancer deaths by half
Genetic testing of the siblings of newborns found to have mutations in any one of 11 genes most commonly associated with childhood-onset cancers could reduce deaths from these rare cancers by about 50%, suggests a study funded by the National…
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Molecular underpinning of chronic bone infection in patients with mycobacterial disease revealed
About a quarter of the world's population is infected with tuberculosis bacteria, according to the World Health Organization, but only about 5 to 10% of those infected will develop symptoms. These pathogens are mycobacteria, which are everywhere, including in chlorine-treated…
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Large genetic analysis identifies numerous gene variants linked with differences in food intake
A team of researchers at Massachusetts General Hospital (MGH), Boston University School of Public Health (BUSPH), and other institutions have identified more than two dozen genetic regions that may affect individuals’ food intake. The investigators hope that the discovery, which…
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Researchers unlock genetic ‘treasure map’ for chronic kidney disease
Despite impacting an estimated 850 million people and being responsible for 1 in 60 deaths worldwide, few treatments are available for chronic kidney disease. Understanding the genetic variations associated with the disease represents an important step for drug development. Now,…
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Genetic factors linked to response to common antiviral medications
St. Jude Children’s Research Hospital scientists and collaborators in Sweden and Japan are reporting that the enzyme NUDT15 plays a role in how patients respond to antiviral therapy with the common drugs ganciclovir and acyclovir. The researchers showed that NUDT15…
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Rare genetic variants confer largest increase in type 2 diabetes risk seen to date
Scientists at the University of Cambridge have identified rare genetic variants—carried by one in 3,000 people—that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic effect. Type 2 diabetes is thought to…
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FDA approves new treatment for patients with hypoplasminogenemia
Today, the U.S. Food and Drug Administration approved Ryplazim (plasminogen, human-tmvh) for the treatment of patients with plasminogen deficiency type 1, also referred to as hypoplasminogenemia, a disorder that can impair normal tissue and organ function and may lead to…
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Japanese-European research team discovers novel genetic mitochondrial disorder
DNA ligase proteins, which facilitate the formation of bonds between separate strands of DNA, play critical roles in the replication and maintenance of DNA. The human genome encodes three different DNA ligase proteins, but only one of them—DNA ligase III…
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