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 […]
Launchpad for Next Generation Medicine
The Department of Medical Genetics is excited to announce that it has launched a Widening Participation programme in collaboration with the Cambridge Admissions Office. The “Launchpad for Next Generation Medicine” aims to encourage and nurture higher education applications to medicine and biomedical sciences in UK cold spot areas, with a focus on encouraging students into […]
Genetic testing gives answers on developmental disorders during pregnancy
Research, published in The Lancet, carried out by the University of Cambridge, Wellcome Sanger Institute, University of Birmingham, Great Ormond Street Hospital (GOSH) and their collaborators found that genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans. The scientists used exome sequencing to improve the diagnoses […]
‘Fingerprint database’ could help scientists to identify new cancer culprits
Scientists in Cambridge and London have developed a catalogue of DNA mutation ‘fingerprints’ that could help doctors pinpoint the environmental culprit responsible for a patient’s tumour – including showing some of the fingerprints left in lung tumours by specific chemicals found in tobacco smoke. Our DNA, the human genome, comprises of a string of molecules […]
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
The DNA damage repair gene PALB2 is well described as increasing risk of breast and ovarian cancer when mutated. In a sequencing study of hereditary diffuse gastric cancer (HDGC) families, Eleanor Fewings as a part of the Tischkowitz lab, has shown that predicted pathogenic mutations in PALB2 also occur in high risk HDGC families. Mutations […]
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