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AI has been used to rapidly diagnose critically ill patients with rare genetic diseases

Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]

Genetics Unzipped podcast: Baby boom – the surprising genetic secrets hidden in the placenta

In the latest episode of Genetics Unzipped, presenter Dr Kat Arney explores the science behind one of the most remarkable […]

Effect of WGS on clinical management in acutely ill infants

Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants. However, before wide-spread adoption and implementation, […]

Genome Giants: Stephen F. Kingsmore – President and CEO of Rady Children’s Institute for Genomic Medicine

Stephen F. Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine, where they are pioneering the […]

A new Chief Scientific Officer has been appointed at Genomics England

Following a rigorous recruitment process, Genomics England has just announced that it has appointed a new Chief Scientific Officer – […]

Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]

Patient Perspectives: Dominique Goodson – Sickle Cell Warrior and President of the SCDForum

Dominique Goodson is a sickle cell warrior, advocate and president of the online platform, SCDForum. After being diagnosed with sickle […]

Patient Perspectives: Daniel Lewi, Founder and CEO, CATS Foundation

Daniel Lewi is the Founder and CEO of the Cure and Action for Tay-Sachs (CATS) Foundation, which supports children and […]

World of Genomics: Canada

For the latest in the World of Genomics series, we head over to the Great White North and home of […]

World of Genomics: The United Kingdom

Being a UK based company in the genomics field, we know the space here better than in any other country […]