DiGeorge Syndrome News and Research

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MOZ protein could explain variations in severity of DiGeorge syndrome

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.

24 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

Researchers use maternal blood sample to sequence genome of an unborn baby

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

5 Jul 2012

Children with craniofacial disorders face numerous medical challenges beyond appearance

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.

23 May 2012

CHOP, Albert Einstein College of Medicine to study genetics of conotruncal defects

The Eunice Kennedy Shriver National Institute of Child Health & Human Development, part of the National Institutes of Health, has awarded researchers at Albert Einstein College of Medicine of Yeshiva University and collaborators at the Children's Hospital of Philadelphia (CHOP) a five-year, $6.7 million grant to study the genetics of both rare and common congenital heart abnormalities known as conotruncal defects.

12 Oct 2011

New research provides insight into mechanism behind cardiac development

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.

25 Apr 2011

PerkinElmer announces new Signature Precision Panel | Prenatal diagnostic test for chromosomal disorders

PerkinElmer, Inc., a global leader focused on the health and safety of people and the environment, today announced that the Company's Signature Genomics Laboratories has launched its new Signature Precision Panel™| Prenatal diagnostic test for rapid testing of 15 common and severe chromosomal disorders.

From PerkinElmer 28 Feb 2011

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.

15 May 2010

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.

13 May 2010

Researchers find the genetic mutation that is linked with changes in brain development

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.

19 Oct 2009

Researchers discover genetic basis for some common congenital birth defects

10 Nov 2008

Absence of ERK2 gene linked to birth defects

A multidisciplinary research team at Case Western Reserve University led by Gary Landreth, Ph.D., a professor in the School of Medicine's Department of Neurosciences, has uncovered a common genetic pathway for a number of birth defects that affect the development of the heart and head. Abnormal development of the jaw, palate, brain and heart are relatively common congenital defects and frequently arise due to genetic errors that affect a key developmental pathway.

10 Nov 2008

Scientists gain new insight into DiGeorge syndrome

A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans.

28 Feb 2005

Researchers trim count of human genes to 20,000-25,000

Scientific description of the finished human genome sequence, reducing the estimated number of human protein-coding genes from 35,000 to only 20,000-25,000, a surprisingly low number for our species.

21 Oct 2004