According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the ...
Nov 8, 2016
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A visit to the dentist could one day require a detailed look at how genes in a patient's body are being switched on or off, as well as examining their pearly whites, according to researchers at the University of Adelaide.
Mar 6, 2014
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For children suffering from rare diseases, it usually takes years to receive a diagnosis. This "diagnostic odyssey" is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious ...
Feb 3, 2022
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A long molecule of RNA found in abundance in the healthy smooth muscle cells that give our blood vessels strength and flexibility is also essential to the continuous contraction that moves food through our gastrointestinal ...
May 9, 2023
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In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing. But while the GRCh38 (hg38) human reference ...
Jun 14, 2021
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The information in the sequence of the human genome has a paramount importance in biomedical research. However, the value of this information is very limited in absence of a detailed map of the genes encoded in the genome. ...
Nov 6, 2017
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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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(Medical Xpress)—In the early stages of that vast undertaking known as the Human Genome Project, enthusiasm ran high. The enterprise would be costly and laborious but the clinical rewards, unprecedented. Once the complete ...
Sep 25, 2012
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An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses ...
Feb 12, 2020
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A group of international researchers, led by a research fellow in the Harvard Medical School-affiliated Institute for Aging Research at Hebrew SeniorLife, published a paper today in Cell describing a study aimed at better ...
Jan 16, 2014
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