Quantcast

Latest Di George's syndrome Stories

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....

2012-05-23 17:12:50

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance. Patients can face serious airway, feeding, speech and hearing problems, as well as social and psychological challenges, Laura Swibel Rosenthal, MD, of Loyola University Medical Center and colleagues write in the June 2012 issue of Otolaryngologic Clinics of North America. "The management of patients with craniofacial syndromes is complex," Rosenthal and...

2011-04-22 13:00:35

During embryonic development, cells migrate to their eventual location in the adult body plan and begin to differentiate into specific cell types. Thanks to new research at the University of Pennsylvania, there is new insight into how these processes regulate tissues formation in the heart.  A developmental biologist at Penn's School of Veterinary Medicine, Jean-Pierre Saint-Jeannet, along with a colleague, Young-Hoon Lee of South Korea's Chonbuk National University, has mapped the...

2010-09-30 20:11:38

'RaDiCAL' approach to gene discovery opens doors to better understanding of human diversity and health Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare genetic disorder that is characterized by distinctive head and facial features, such as unusual eyelids, narrow and beaked noses, flat nasal bridges, jaw deformities, and a turned out lower lip. As part of McGill's "RaDiCAL" project (Rare Disease Consortium for Autosomal Loci), collaborators in Qatar conducted field research with three...

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...

2010-05-13 13:25:15

Research sheds light on prenatal heart formation, chromosome 22q.11 deletion syndrome Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation. Although the findings do not currently affect treatments for chromosome 22q.11 deletion syndrome, they...

2010-05-13 08:46:00

--Research Sheds Light on Prenatal Heart Formation, Chromosome 22q.11 Deletion Syndrome-- PHILADELPHIA, May 13 /PRNewswire-USNewswire/ -- Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation. Although the findings do not currently affect...

2010-03-31 13:42:22

NEW YORK, NY "“ In what may provide the most compelling evidence to date, researchers at Columbia University Medical Center have illuminated how a genetic variant may lead to schizophrenia by causing a disruption in communication between the hippocampus and prefrontal cortex regions of the brain, areas believed to be responsible for carrying out working memory. Findings are published in the current online edition of Nature. This discovery coincides with the 15th anniversary of the first...

2009-10-17 09:36:26

For decades, scientists have thought the faulty neural wiring that predisposes individuals to behavioral disorders like autism and psychiatric diseases like schizophrenia must occur during development. Even so, no one has ever shown that a risk gene for the disease actually disrupts brain development. Now, researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion "“ a mutation that confers the highest known genetic risk for...


Word of the Day
kenspeckle
  • Having so marked an appearance as easily to be recognized.
This word may come from the Swedish 'kanspak,' quick at recognizing persons or things, or else from confusion with 'conspicuous.'