DiGeorge Syndrome News and Research

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Study identifies genomic variant linked to unique human skull base morphology

Humans, Homo sapiens, have unique features compared with other closely related hominin species and primates, including the shape of the base of the skull.

17 Apr 2024

Genetic test streamlines diagnosis of rare developmental disorders

A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.

28 Mar 2024

Mitochondrial dysfunction may be a contributor to schizophrenia

Researchers at Rutgers and Emory University are gaining insights into how schizophrenia develops by studying the strongest-known genetic risk factor.

16 Aug 2023

VTC professor awarded NIH grant to study a potential therapy for DiGeorge syndrome

The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain.

3 Apr 2023

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