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 capture-based bisulfite sequencing panel designed and produced in collaboration with CEGX, NuGen and Tecan. Genomic imprinting is an epigenetic process that controls the expression […]
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 damage and repair processes each patient has been through. “The reason it is important to identify mutational signatures is because they are like fingerprints at […]
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 opportunity to undertake a 60 credit research project as part of their studies. Anthony McGuigan who graduated with a MPhil in 2021 published his paper […]
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 recent years in discovering the diverse genetic differences which can cause ID, and genome-wide diagnostic technologies are now implemented in routine NHS care. However, identifying […]
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 these genes were discovered in the mid 90s, numerous studies have explored possible links between BRCA1 and BRCA2 mutations and other cancers. However, these studies […]
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 to the field before, or in, their first independent position. Professor Nik-Zainal’s research holds the key to personalised and more effective treatments for cancer patients, […]
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 because they can affect many different organs and resemble many other conditions. Current genetic testing regimes fail to diagnose around 40% of patients, with major […]
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 clinical genomics and the major impact of her research on clinical practice.” Professor Eamonn Maher BSc MD MA FRCP FMedSci, Professor of Medical Genetics and […]
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 Breast, Pancreatic and Ovarian Cancers Bethesda, MD – May 11, 2021| The American College of Medical Genetics and Genomics (ACMG) has released an important new […]
New cancer algorithm flags genetic weaknesses in tumours
A new way to identify tumours that could be sensitive to particular immunotherapies has been developed using data from thousands of NHS cancer patient samples sequenced through the 100,000 Genomes Project. The MMRDetect clinical algorithm makes it possible to identify tumours that have ‘mismatch repair deficiencies’ and then improve the personalisation of cancer therapies […]
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