DiGeorge Syndrome News and Research

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Scientists discover how a rare genetic disorder disrupts key neural interactions in the developing brain

Every time you chew, talk, yawn, or sense the zap of a toothache, cranial nerve cells are shuttling electrochemical signals to your brain.

23 Feb 2022

Drug developed at Duke is approved by FDA as only therapy for congenital athymia

The phone rang into the pediatric unit that Louise Markert, M.D., Ph.D., was staffing as a junior faculty member in 1991. Had she not answered, there would have been little hope for the more than one hundred patients who were subsequently treated.

11 Oct 2021

People born with a heart defect have low risk of moderate or severe COVID-19 infection

Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal of the American Heart Association, an open access journal of the American Heart Association.

14 Oct 2020

Misfiring brain cells may create swallowing difficulties in children with neurodevelopmental disorders

Misfiring brain cells that control key parts of the mouth and tongue may be creating swallowing difficulties in children with neurodevelopmental disorders, according to neuroscientists with Virginia Tech and George Washington University.

2 Sep 2020

New study provides clear picture of brain abnormalities associated with schizophrenia

What if the key to a better understanding of schizophrenia has been here all along--but researchers haven't had the resources to study it?

12 Feb 2020

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called "cerebral organoids."

24 Oct 2019

Scientists identify key gene in 22q11.2 that contributes to genitourinary birth defects

The 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this region because it is deleted in about 1 in 4,000 births, causing the loss or duplication of up to 40 genes.

25 May 2017

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Researchers with the National Human Genome Research Institute, part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans.

24 Mar 2017

Missing gene may cause kidney and urinary tract defects in people with DiGeorge syndrome

Loss of function of the CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome, a multinational team of scientists led by Columbia University Medical Center has found.

25 Jan 2017

Einstein researcher receives $7.5 million NIH grant to study genetics of congenital heart disease

The National Institutes of Health has awarded Bernice Morrow, Ph.D., at Albert Einstein College of Medicine and collaborators at the Children's Hospital of Philadelphia a five-year, $7.5 million grant to study the genetics of congenital heart abnormalities.

22 Nov 2016

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

From Natera 30 Jul 2016

New method may extend use of noninvasive prenatal testing to detect chromosomal abnormalities

Researchers at the University of California, San Diego School of Medicine developed a method to expand the types of chromosomal abnormalities that noninvasive prenatal testing (NIPT) can detect. The study, published November 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with a simple blood test from the expectant mother.

10 Nov 2015

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder.

28 Jul 2015

UC Davis MIND Institute named Intellectual and Developmental Disabilities Research Center

The UC Davis MIND Institute has been named an Intellectual and Developmental Disabilities Research Center, through a prestigious grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health - a distinction held by only a handful of neurodevelopmental centers nationwide committed to the diagnosis, prevention, treatment and amelioration of developmental disorders such as autism, fragile X syndrome and Down syndrome.

14 Mar 2014

Natera initiates distribution partnership with ProPath for Panorama non-invasive prenatal screening test

Natera, a leading innovator in prenatal genetic testing, today announced the initiation of a distribution partnership with ProPath, a wholly physician-owned provider of pathology services to clinicians and medical facilities in the United States, for its Panorama non-invasive prenatal screening test (NIPT).

From Natera 12 Feb 2014

Chicken eggs can provide better understanding of human birth defects

Clemson University researchers found that chicken eggs can provide a better understanding of human birth defects. Susan Chapman, associate professor in Clemson's College of Agriculture, Forestry and Life Sciences, received a South Carolina IDeA Networks of Biomedical Research Excellence award that allowed researchers to identify two regions in the chicken genome that are associated with congenital deafness and spine deformities in humans.

26 Nov 2013

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

An international team of scientists-including researchers at GENYO, the Centre for Genomics and Oncological Research (Pfizer-University of Granada- Andalusian Regional Government)-has described a molecular mechanism that facilitates the defence of the human genome against "bombarding" by mobile DNA sequences.

10 Oct 2013

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

Thymus tissue, iPSCS and liver cells can thrive in lymph nodes

Lymph nodes can provide a suitable home for a variety of cells and tissues from other organs, suggesting that a cell-based alternative to whole organ transplantation might one day be feasible, according to researchers at the University of Pittsburgh School of Medicine and its McGowan Institute for Regenerative Medicine.

28 Sep 2012

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