Down Syndrome News and Research

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Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.
Research provides evidence to support expansion of insurance coverage of NIPT

Research provides evidence to support expansion of insurance coverage of NIPT

Researchers explore risk of ALL in children with Down syndrome

Researchers explore risk of ALL in children with Down syndrome

Researchers identify mechanism responsible for spatial issues in people with Down syndrome

Researchers identify mechanism responsible for spatial issues in people with Down syndrome

Gene mutation in the brain of autism patients alters behaviors in mice

Gene mutation in the brain of autism patients alters behaviors in mice

BU professor awarded NIH grant to study Down syndrome

BU professor awarded NIH grant to study Down syndrome

Children with birth defects have elevated cancer risk, study reveals

Children with birth defects have elevated cancer risk, study reveals

Augusta vision scientist receives grant to learn more about keratoconus’ causes and treatments

Augusta vision scientist receives grant to learn more about keratoconus’ causes and treatments

Scientists create 'mini-brain' for studying sporadic Creutzfeldt-Jakob disease

Scientists create 'mini-brain' for studying sporadic Creutzfeldt-Jakob disease

Rutgers-led study pinpoints key gene linked to impaired memory in Down syndrome

Rutgers-led study pinpoints key gene linked to impaired memory in Down syndrome

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

MIT announces creation of the Alana Down Syndrome Center

MIT announces creation of the Alana Down Syndrome Center

Biologists uncover mechanism that determines faithful inheritance of short chromosomes

Biologists uncover mechanism that determines faithful inheritance of short chromosomes

New blood test detects genetic disorders in fetuses

New blood test detects genetic disorders in fetuses

Study reveals how one mutation causes the most common inherited intellectual disability

Study reveals how one mutation causes the most common inherited intellectual disability

Vilcek Foundation prizes awarded to immigrants for their work on human biology and disease

Vilcek Foundation prizes awarded to immigrants for their work on human biology and disease

Cannabinoid receptor type 1 appears to be potential target to treat Down syndrome

Cannabinoid receptor type 1 appears to be potential target to treat Down syndrome

Genetic testing improves diagnoses of abnormalities in developing babies

Genetic testing improves diagnoses of abnormalities in developing babies

New study highlights development of functional skills in people with Down syndrome

New study highlights development of functional skills in people with Down syndrome

European scientists aim to identify causes of dementia

European scientists aim to identify causes of dementia

MUHC's 'Dr. House' discovers new genetic disease and the gene responsible for it

MUHC's 'Dr. House' discovers new genetic disease and the gene responsible for it