A study shows, for the first time, that epigenetic defects in the human genome are widespread, and occur at hundreds of genes known to cause genetic diseases.
Sep 15, 2020
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Penicillin, a life-saving medicine, is the most common cause of drug allergy, with clinical manifestations ranging from temporary skin reactions to life-threatening systemic syndromes. Thus far, genetic factors have only ...
Sep 3, 2020
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A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have combined clinical information with large-scale genomic data to successfully link ...
Aug 26, 2020
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A study led by the Seaver Autism Center for Research and Treatment at Mount Sinai found that two different blood epigenetic signatures associated with ADNP syndrome (also known as Helsmoortel-Van Der Aa syndrome) have only ...
Aug 5, 2020
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Best vitelliform macular degeneration, or Best disease, is an inherited eye condition that typically leads to blindness over the course of a few decades. The disease can be caused by more than two hundred mutations in the ...
Jul 31, 2020
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Jared Talbot is part of a 32-member international research team that identified a gene that, when altered, can cause bent fingers and toes, clubfoot, scoliosis, and short stature.
Jul 29, 2020
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Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of ...
Jul 24, 2020
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The effects of the forced deportation of over 10 million African people during the transatlantic slave trade remain entrenched in the DNA of people from North, Central, and South America as well as the Caribbean. Now, in ...
Jul 23, 2020
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Scientists at Sanford Burnham Prebys Medical Discovery Institute and Radboud University Medical Center in the Netherlands have identified mutations in a gene called CNOT1 that affect brain development and impair memory and ...
Jun 24, 2020
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Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions.
Jun 17, 2020
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