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Antisense therapy for MECP2 duplication syndrome

A preclinical study has provided experimental evidence that supports the use of antisense oligonucleotides as a strategy to treat MECP2 […]

The genetics of miscarriage

1 in 8 pregnancies will end in miscarriage. Growing up I always assumed that having a miscarriage was rare and […]

The Rarest of the Rare

In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]

Rapid Whole-Genome Sequencing-Informed Precision Medicine for Critically Ill Children by Stephen F. Kingsmore

At the Festival of Genomics and Biodata 2021, we were joined by Stephen F. Kingsmore (President and CEO, Rady Children’s […]

Rare neurodevelopmental disorder associated with SATB1 dysfunction

A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]

Down syndrome: New genetic approaches

A recent review, published in Cell, has examined the lessons learned from model systems and has explored emerging methods for […]