The family of a two year old girl with a condition so rare she is the only person in the world diagnosed with it have said they’ll never give up on her. Bridget McNally was born with the one of a kind ...

A human brain organoid. Credit: Indra Niehaus, Medizinische Hochschule Hannover A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life. Why do some children develop a ...

Mutations in the ASPM gene are the most common cause of primary hereditary microcephaly in humans, a condition characterized by a severely reduced brain size. While ASPM has been studied in rodents ...

During human brain development, neural stem cells must balance self-renewal and differentiation to build the cerebral cortex – the brain’s outer layer responsible for cognition and perception. If this ...

Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay. An international research team led by Dr. Tran Tuoc from the ...

Despite advances, whole genome sequencing — and with it the promise of early, life-altering therapies — still isn’t a routine part of care for most newborns. Many babies enter the world with silent ...

Calvin's diagnosis came after nearly two years of various testing Kate Todd Photography Klairissa and Mike welcomed their first baby after some pregnancy complications, but were excited to bring their ...

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth ...

Are you mostly a product of the genes you inherit or your experiences in life? This question intrigues many people, including addiction researchers. In this post, I provide an overview of key research ...

An individual’s genetics and their environment both shape their personality. However, opinions differ on the degree to which each of these factors influences personality, and how they contribute to ...

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...