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 ...

Genetics

For keeping X chromosomes active, chromosome 19 marks the spot

After nearly 40 years of searching, Johns Hopkins researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos ...

Medical research

Study helps explain varying outcomes for cancer, Down Syndrome

Aneuploidy is a condition in which cells contain an abnormal number of chromosomes, and is known to be the cause of many types of cancer and genetic disorders, including Down Syndrome. The condition is also the leading cause ...

Genetics

Duality in the human genome

Humans don't like being alone, and their genes are no different. Together we are stronger, and the two versions of a gene – one from each parent – need each other. Scientists at the Max Planck Institute for Molecular ...

Genetics

New gene variant discovered for ALS

(Medical Xpress)—Research led by King's College London has identified a new genetic variant, located on chromosome 17, associated with sporadic amyotrophic lateral sclerosis (ALS) – the most common form of motor neurone ...

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