Quantcast

Latest Genetic disorder Stories

2012-03-29 22:13:18

1.            An international team led by scientists at A*STAR´s Institute of Medical Biology (IMB) discovered that a protein, called TRIM28, normally present in the mother´s egg, is essential right after fertilisation, to preserve certain chemical modifications or ℠epigenetic marks´ on a specific set of genes. This newly published study paves the way for more research to explore the role that epigenetics might play...

2012-03-09 01:32:16

Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition. The study demonstrating the first evidence of a link between abnormality in this gene and an inherited form of cancer. The researchers say this finding...

2012-02-10 18:33:33

NIH study shows benefits of long-term Kineret therapy in people with NOMID A new study shows that Kineret (anakinra), a medication approved for the treatment of rheumatoid arthritis, is effective in stopping the progression of organ damage in people with neonatal-onset multisystem inflammatory disease (NOMID). This rare and debilitating genetic disorder causes persistent inflammation and ongoing tissue damage. The research was performed by scientists at the National Institute of Arthritis...

New Technique Could Give Child Three Biological Parents
2012-01-20 13:43:38

Researchers have determined that babies with three biological parents could be a reality within three years by using a new IVF technique. The Wellcome Trust and Newcastle University report that they have secured new funding to develop the treatment, which could prevent genetic conditions affecting the heart, muscle or brain being passed on to children and future generations. The method has been seen as controversial because it involves transferring the parents' DNA into a donor egg,...

2011-12-07 20:04:02

A four-year $16 million grant from the National Human Genome Research Institute and the National Heart, Lung and Blood Institute will enable Baylor College of Medicine and Johns Hopkins University School of Medicine to search for the cause of often rare, single-gene diseases usually called Mendelian disorders. The Baylor-Johns Hopkins Center for Mendelian Genetics will be led by principal investigator Dr. David Valle, director of the McKusick-Nathans Institute of Genetics at Johns Hopkins...

2011-10-18 13:19:30

Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and identification of novel genetic variants affecting X chromosome genes. The method, developed in cooperation with RainDance Technologies, is described in the Oct. 2011 issue of Genomics. Senior author Michael Zwick, PhD, assistant professor of human genetics at Emory...

Genetic Defect Leaves Some Without Fingerprints
2011-09-19 04:15:03

  Like DNA, fingerprints are unique to each person or set of identical twins. That makes them a valuable identification tool for everything from crime detection to international travel. But what happens when the tips of our fingers are missing those distinctive patterns of ridges? It's not the premise for a science fiction movie, but a real-life condition known as adermatoglyphia. It's also known as "Immigration Delay Disease," because affected individuals experience difficulty in...

2011-07-15 14:51:53

A gene linked to intellectual disability was found in a study involving the Centre for Addiction and Mental Health (CAMH) "“ a discovery that was greatly accelerated by international collaboration and new genetic sequencing technology, which is now being used at CAMH. CAMH Senior Scientist Dr. John Vincent and colleagues identified defects on the gene, MAN1B1, among five families in which 12 children had intellectual disability. The results will be published in the July issue of the...


Word of the Day
cock-a-hoop
  • Exultant; jubilant; triumphant; on the high horse.
  • Tipsy; slightly intoxicated.
This word may come from the phrase 'to set cock on hoop,' or 'to drink festively.' Its origin otherwise is unclear. A theory, according to the Word Detective, is that it's a 'transliteration of the French phrase 'coq a huppe,' meaning a rooster displaying its crest ('huppe') in a pose of proud defiance.' Therefore, 'cock-a-hoop' would 'liken a drunken man to a boastful and aggressive rooster.'
Related