DiGeorge Syndrome News and Research

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

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

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

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

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

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

New study provides clear picture of brain abnormalities associated with schizophrenia

New study provides clear picture of brain abnormalities associated with schizophrenia

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

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

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

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

NHGRI researchers use facial recognition software to diagnose rare genetic disease

NHGRI researchers use facial recognition software to diagnose rare genetic disease

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

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

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

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

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

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

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

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

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

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

UC Davis MIND Institute named Intellectual and Developmental Disabilities Research Center

UC Davis MIND Institute named Intellectual and Developmental Disabilities Research Center

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

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

Chicken eggs can provide better understanding of human birth defects

Chicken eggs can provide better understanding of human birth defects

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

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

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

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

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

MOZ protein could explain variations in severity of DiGeorge syndrome

MOZ protein could explain variations in severity of DiGeorge syndrome

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor