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Latest DiGeorge syndrome Stories

2014-07-22 08:30:52

SAN DIEGO, July 22, 2014 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced its wholly owned subsidiary, Sequenom Laboratories, will soon begin reporting on the presence of three additional clinically relevant subchromosomal microdeletions as part of the Enhanced Sequencing Series (ESS) for its MaterniT21(TM) PLUS laboratory-developed test. The microdeletions added include 11q deletion (Jacobsen...

2014-02-20 12:13:45

Collaborative research out of the George Washington University (GW) reveals new information on the pathogenesis of feeding and swallowing difficulties often found in children with neurodevelopmental disorders, including autism and intellectual disability. Using an animal model of DiGeorge/22q11 Deletion Syndrome, a genetic disorder that causes autism and intellectual disability, the GW group found clear signs of early feeding and swallowing disruption, and underlying changes in brain...

2013-11-20 23:01:49

Dr. Cayce Jehaimi, a Fort Myers, Florida Pediatric Endocrinologist, is the latest addition to DoctorsElite's medical professional profiles. Gulfport, MS (PRWEB) November 20, 2013 DoctorsElite, a site that helps patients find doctors by diagnosis, treatment, and specialty, has announced that Dr. Cayce Jehaimi has joined their growing membership list. Dr. Jehaimi brings a wide knowledge of pediatric endocrinology to an already diverse member base for the site. Dr. Jehaimi treats...

2013-09-18 23:30:11

The Jerome Lejeune Foundation, the world's largest private funder of research into genetic intellectual disability, announces the US portion of it's funding in the first cycle of 2013. Total international funding by the foundation in this cycle is $1.1 million to researchers working in 8 countries. Philadelphia, PA (PRWEB) September 18, 2013 The Jérôme Lejeune Foundation, USA’s Scientific Advisory Board has selected 5 U.S. researchers for funding in its first funding...

2013-09-18 13:22:43

UC Davis MIND Institute research finds rigorous evaluations are needed to accurately diagnose autism in children with 22q11.2 deletion syndrome Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests. The study is the first to...

Early Warning Signs For Cognitive Decline
2013-09-10 13:25:35

Brett Smith for redOrbit.com - Your Universe Online Two new studies have revealed readily-detectable, early-warning signs of cognitive impairment. One study from researchers at the University of California, Davis revealed that the degeneration of a small structure deep in the brain called the fornix provides early clues for the future onset of memory loss or dementia. The other study from the University of Toronto in Canada showed a new link between early-onset Parkinson's disease and a...

2013-01-03 18:09:50

Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism. Anthony-Samuel LaMantia, Ph.D., professor of pharmacology and physiology at the GW School of Medicine and Health Sciences (SMHS) and director of the GW Institute for Neuroscience, along with post-doctoral fellow Daniel Meechan, Ph.D. and...

2012-08-24 00:38:02

The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome. Researchers from the Walter and Eliza Hall Institute made the discovery while investigating fetal development in an animal model of DiGeorge syndrome. DiGeorge syndrome affects approximately one in 4000 babies. Dr Anne Voss and Dr Tim Thomas led the study, with colleagues from the institute's...

2010-05-14 09:08:50

Research sheds light on early embryogenesis, genetic disease Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome) is the most common human chromosome deletion syndrome, having an estimated incidence of at least one in 4,000 live births. It has a range of severity but a multisystem impact, with symptoms that may include congenital heart defects, immunologic and endocrine abnormalities, cleft palate, gastrointestinal problems, and neuropsychiatric abnormalities. Nearly...


Word of the Day
vermicular
  • Like a worm in form or movement; vermiform; tortuous or sinuous; also, writhing or wriggling.
  • Like the track or trace of a worm; appearing as if worm-eaten; vermiculate.
  • Marked with fine, close-set, wavy or tortuous lines of color; vermiculated.
  • A form of rusticated masonry which is so wrought as to appear thickly indented with worm-tracks.
This word ultimately comes from the Latin 'vermis,' worm.
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