Medical research

Targeting key gene could help lead to Down syndrome treatment

Targeting a key gene before birth could someday help lead to a treatment for Down syndrome by reversing abnormal embryonic brain development and improving cognitive function after birth, according to a Rutgers-led study.

Genetics

Unveiling disease-causing genetic changes in chromosome 17

Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a similar small piece of chromosome ...

Genetics

Male Y chromosomes not 'genetic wastelands'

When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...

Genetics

Big data provides clues for characterizing immunity in Japanese

Although genes are distributed widely across chromosomes, many genes related to the immune system are clustered together on human chromosome 6 in a segment called the major histocompatibility complex (MHC) region. The density ...

Obstetrics & gynaecology

Sequencing all 24 human chromosomes uncovers rare disorders

Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes ...

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