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UrduResearchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement. Tandem repeat expansions are only found in 50 conditions, including Friedreich’s ataxia and Huntington’s disease, but researchers believe they could account for many other conditions.
Tag: genetic abnormality
Chula Researches “Tooth Loss” in Thai People- A Hereditary Condition Caused by Genetic Abnormalities
Chulalongkorn dental research reveals that Thais suffer more tooth loss than their foreign counterparts with 9 out of 100 Thais suffering the condition. One of the most important factors is hereditary gene abnormalities.
Researchers Shed Light on Genetic Mechanisms of Wilms Tumor
New research from Ann & Robert H. Lurie Children’s Hospital of Chicago and collaborators from other institutions provides insights into some of the genetic characteristics resulting in the development of relapse in patients with Wilms tumor (nephroblastoma), the most common type of pediatric cancer of the kidney.
Nearly 1 in 5 Patients Who Die from Unexplained Sudden Cardiac Death Have Suspicious Gene
.Researchers from the University of Maryland School of Medicine (UMSOM) and their colleagues found that nearly 20 percent of patients with unexplained sudden cardiac death – most of whom were under age 50 – carried rare genetic variants. These variants likely raised their risk of sudden cardiac death.
Partners in Crime: Genetic Collaborator May Influence Severity of the Rare Disease, NGLY1
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. Since then, more than 60 additional patients have been found. University of Utah Health geneticist Clement Chow is investigating the disease, which affects every system of the body.
Coriell Institute Awarded $9.2M Biobanking Grant from National Institute of General Medical Sciences
The Coriell Institute for Medical Research has been awarded a $9.2 million grant through an open competition from the National Institute of General Medical Sciences (NIGMS). This five-year award keeps Coriell in place as the steward of the NIGMS Human Genetic Cell Repository, a world-renowned collection of high quality cell lines and DNA samples representing genetic diseases, distinct human populations around the world, and more.