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 […]
No deal Brexit could have detrimental impact for four million people in UK living with a rare disease
One in 17 UK citizens lives with a rare disease, which are defined as conditions that affect fewer than one in 2,000 people in the general population. A group of experts has written to The Lancet highlighting their concerns about the detrimental impact a no deal Brexit will have on these individuals. “Rare diseases are […]
Dr George Mells awarded MRC Clinical Academic Research Partnership (CARP) grant
Congratulations to Dr George Mells who has been awarded an MRC Clinical Academic Research Partnership (CARP) grant, in the Department of Medical Genetics, for his project on Precision Medicine in Primary Biliary Cholangitis (PBC) beginning in the New Year. Dr George Mells is a Consultant Hepatologist at Addenbrooke’s Hospital, and a theme lead for UK-PBC. […]
Award Ceremony of the Dr. Josef Steiner Cancer Research prize
Principal Investigator, Dr Serena Nik-Zainal’s Josef Steiner Award is for her successful application to accelerate holistic cancer genome interpretation towards the clinic with collaborators Dr Paul Calleja and Dr Ignacio Medina. The Dr. Josef Steiner Cancer Research Prize 2019, originally also known as the “Nobel Prize for Cancer Research”, goes to Prof. Dr. Serena Nik-Zainal […]
Genomic Medicine MPhil Student selected to participate in Roche Continents 2019
Nastazja Laskowski, a student on the Genomic Medicine MPhil course has been selected as 1 of 100 students to take part in the Roche Continents programme taking place August 2019. Since 2007, Roche has invited top-talented students to experience a unique journey exploring sources of inspiration at the intersection of science and art, as […]
Genome sequencing ‘revolution’ in diagnosis of sick children
Genome sequencing is set to revolutionise the diagnosis of rare childhood conditions, according to researchers in Cambridge. All seriously ill children in England with an unexplained disorder will be eligible for genome analysis, which involves mapping a person’s entire genetic code, from next year. It follows a project at Addenbrooke’s Hospital and Cambridge university. […]
Medical Genetics at Target Oxbridge
On 16th April Medical Genetics took part in Target Oxbridge, taking the Launchpad in Next Generation to black African and Caribbean students and students of mixed race with black African and Caribbean heritage on the Easter Cambridge residential. Dr Tim Hearn who led the session said, “It was great to see the students engaging with genetics […]
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