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Latest Genetic disorders Stories

2012-06-06 23:01:31

RDS Runners share their stories on why they are running for Down syndrome research. Chicago, IL (PRWEB) June 06, 2012 Research Down Syndrome and its national RDS Runners Charity Racing Program observes June 6, National Running Day by spotlighting three RDS Runners participating in races as fundraisers for Down syndrome research. Our featured runners have a daugther, a brother and a future nephew with Down syndrome. They share in a commitment to have their miles support the RDS mission to...

2012-06-06 12:22:39

Seizure severity and antiepileptic drug polytherapy among predictors of poor seizure outcomes A 25-year follow-up study reveals that 68% of patients with juvenile myoclonic epilepsy (JME) became seizure-free, with nearly 30% no longer needing antiepileptic drug (AED) treatment. Findings published today in Epilepsia, a journal of the International League Against Epilepsy (ILAE), report that the occurrence of generalized tonic-clonic seizures preceded by bilateral myoclonic seizures, and AED...

2012-06-05 23:03:15

Revolutionary dietary supplement from Neogenis® Labs supported struggling teen´s circulation and helped his body normalize blood pressure. Austin, TX (PRWEB) June 05, 2012 In the spring of 2010, Baylor College of Medicine's (BCM) Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to...

2012-06-01 23:03:46

World-renowned Professionals Connect with Families July 6 — 10th in Orlando to Discuss Cutting-edge Trends & Treatments Matawan, NJ (PRWEB) June 01, 2012 The International 22q11.2 Foundation Inc., an organization dedicated to improving the quality of life for people affected by chromosome 22q11.2 abnormalities through family and professional partnerships, is acting as the lead sponsor for The 8th Biennial International 22q11.2DS Conference in Orlando, FL,USA from July 6 -10th....

2012-05-29 12:38:58

Research finds 20 distinct mutations A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found. The research, published online in Nature Genetics (27 May) discovered 20 distinct mutations in a specific gene found in patients with the rare adrenal disease, Familial Glucocorticoid Deficiency (FGD). The potentially fatal disease means affected children are unable to produce a hormone...

2012-05-29 12:37:29

Children's Hospital of Philadelphia researchers shed light on genetic disorders tied to cohesin protein malfunction Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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Word of the Day
grass-comber
  • A landsman who is making his first voyage at sea; a novice who enters naval service from rural life.
According to the OED, a grass-comber is also 'a sailor's term for one who has been a farm-labourer.'