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Many viable IVF embryos not implanted due to mosaicism

A recent study has suggested that many embryos from IVF that are discarded due to chromosomal abnormalities have the potential […]

The rollercoaster ride of gene therapy (admission fees required)

Where there is a symptom there is hopefully a treatment. For example, if I have a headache, I reach straight […]

A substantial genetic contributor to loss of Y chromosome and type 2 diabetes

Researchers have identified loss-of-function GIGYF1 variants that contribute more to the risk of loss of Y chromosome and type 2 […]

ACMG Meeting 2021

This week (13th-16th April 2021), the American College of Medical Genetics and Genomics (ACMG) hosted its Annual Clinical Genetics Meeting. […]

The placenta: A dumping ground for genetic defects

Scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators have found that the placenta resembles that […]

Uninherited mutations in spina bifida

Researchers have found that uninherited mutations that occur randomly during the earliest stages of embryonic development can cause spina bifida. […]

Study finds aneuploidy common in early-stage human embryos

A new single-cell study has found that aneuploidy is common in early-stage human embryos, a finding that may have implications […]