A major study of children with intellectual disabilities has highlighted the additional challenges that they often face, including a much-increased likelihood of being diagnosed as autistic, as well as […]
Novel assay for clinical diagnostic and research studies of the role of disordered imprinting in human disease states
A new promising tool to interrogate DNA methylation at human imprinted regions has been developed by researchers from the University of Cambridge’s Department of Medical Genetics. ImprintSeq is a hybridization […]
Professor Serena Nik-Zainal from Cambridge University Hospitals (CUH) and the University of Cambridge, analyses the complete genetic make-up or whole-genome sequences (WGS) of more than 12,000 NHS cancer patients.
DNA analysis of thousands of tumours from NHS patients has found a ‘treasure trove’ of clues about the causes of cancer, with genetic mutations providing a personal history of the […]
New publications from MPhil in Genomic Medicine students
Two former University of Cambridge MPhil in Genomic Medicine students have started 2022 by each publishing a research paper. Students who study the MPhil in Genomic Medicine (https://medgen.medschl.cam.ac.uk/graduate-admissions/mphil-in-genomic-medicine/) have the […]
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Around 3% of the global community has intellectual disability (ID, also known as learning disability), meaning significant lifelong cognitive difficulties impacting on everyday life. Extraordinary progress has been made in […]
Faulty BRCA genes linked to prostate and pancreatic cancers
A study published today in the Journal of Clinical Oncology has provided the strongest evidence to date of these links and helped researchers estimate more accurately the associated risk. Since […]
Congratulations to Professor Serena Nik-Zainal for winning the 2021 Foulkes Foundation Academy of Medical Sciences Medal and NIHR Research Professorship Award
The Foulkes Foundation Academy of Medical Sciences Medal: The Foulkes Foundation Academy of Medical Sciences Medal is awarded biennially to a rising star within biomedical research for contributing important and significant impacts […]
Whole genome sequencing increases diagnosis of rare disorders by nearly a third
Mitochondrial disorders affect around 1 in 4,300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, not least […]
New Honorary Professor
The Department of Medical Genetics announces new Honorary Professor, Professor Helen Firth. “The rare award of a Honorary Professorship is testament to Professor Firth’s international reputation at the forefront of […]
A new ACMG Clinical Practice Resource, developed by a global team of cancer genetics specialists, provides guidance for individuals, helps guide clinical management of patients.
Global Team of Cancer Genetic Specialists Provides New Guidance for Individuals with PALB2 Gene Variants: ACMG Clinical Practice Resource to Help Guide Clinical Management of Patients at Increased Risk of […]
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