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Latest the American Journal of Human Genetics Stories

2014-04-18 15:41:30

Researchers propose classification system revolutionizing communication of chromosomal abnormalities for research and clinical settings When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in clinical and research reports. Now a study by researchers at Brigham and Women's Hospital (BWH) proposes a new classification system...

2012-06-21 20:56:41

A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any...

2012-05-25 09:39:58

Harvard School of Public Health (HSPH) researchers have found that detailed knowledge about your genetic makeup–the interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factors–may only change your estimated disease prediction risk for three common diseases by a few percentage points, which is typically not enough to make a difference in prevention or treatment plans. It is the first study to revisit claims in previous...

2011-08-04 14:08:25

Scientists have identified a mutation that might underlie an extremely rare condition, called "adermatoglyphia," which causes people to be born without any fingerprints. The research, published by Cell Press online August 4th in The American Journal of Human Genetics, not only provides valuable insight into the genetic basis of adermatoglyphia and of typical fingerprint formation but also underscores the usefulness of rare genetic mutations as a tool for investigating unknown aspects of our...

2011-07-14 15:55:25

Parkinson disease (PD) is a devastating incurable disease in which degeneration of dopamine neurons in the brainstem leads to tremors and problems with movement and coordination. An increasing proportion of patients appear to be genetically predisposed to disease. Now, two independent research groups have identified a mutation associated with an inherited form of PD. The papers, published by Cell Press in the July 9 issue of The American Journal of Human Genetics, provide new insight into the...

2011-06-09 23:29:26

Mutations in genes essential to survival are behind so-called orphan diseases, explaining in part why these diseases are rare and often deadly, according to a study appearing in The American Journal of Human Genetics. The new finding contrasts sharply with what is known about mutations in non-essential genes being the drivers of common diseases having higher prevalence rates, according to scientists at Cincinnati Children's Hospital Medical Center who conducted the research. The...

2010-09-30 20:06:50

A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report. It's also helped clear up why some patients with delayed puberty have no sense of smell, said Dr. Lawrence C. Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics. The WRD11 gene interacts with a transcription factor that appears to be involved in development of gonadotropin releasing hormones that enable...

2009-09-10 10:33:26

New study proves that communication between male and female occurs in our innermost beings In the week that the University of Leicester celebrates the 25th anniversary of the discovery of DNA fingerprinting (Thursday September 10) new findings from the world-renowned University of Leicester Department of Genetics reveal for the first time that the male and female do truly communicate "“at least at the fundamental genetic level. The research counters scientific theory that the X and Y...


Word of the Day
barratry
  • The offense of persistently instigating lawsuits, typically groundless ones.
  • An unlawful breach of duty on the part of a ship's master or crew resulting in injury to the ship's owner.
  • Sale or purchase of positions in church or state.
This word ultimately comes from the Old French word 'barater,' to cheat.
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