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.
Optimal therapy for Down syndrome arthropathy remains unclear, reveals study

Optimal therapy for Down syndrome arthropathy remains unclear, reveals study

Children with Down syndrome at greater risk of an associated form of arthritis

Children with Down syndrome at greater risk of an associated form of arthritis

Top organizations announce awards for emerging leaders in brain health and dementia

Top organizations announce awards for emerging leaders in brain health and dementia

IBR receives $1.95 million NIH grant for research on rare diseases

IBR receives $1.95 million NIH grant for research on rare diseases

Genes linked to autism spectrum disorder may play role in eye movements

Genes linked to autism spectrum disorder may play role in eye movements

Study uncovers cause for spatial-memory deficits in people with Down syndrome

Study uncovers cause for spatial-memory deficits in people with Down syndrome

Wisconsin study: 3 in 5 people with Down syndrome diagnosed with dementia by age 55

Wisconsin study: 3 in 5 people with Down syndrome diagnosed with dementia by age 55

Older people with Down syndrome at higher risk for Alzheimer's disease, dementia

Older people with Down syndrome at higher risk for Alzheimer's disease, dementia

Decision support tool could avert needless referrals of low-risk patients to cardiac specialists

Decision support tool could avert needless referrals of low-risk patients to cardiac specialists

Researchers receive $3.2 million NIH grant to pursue a deeper understanding of Down syndrome

Researchers receive $3.2 million NIH grant to pursue a deeper understanding of Down syndrome

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