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 […]
Translating In Vivo Metabolomic Analysis of Succinate Dehydrogenase–Deficient Tumors Into Clinical Utility
Genetic mutations in genes encoding enzymes involved in cellular metabolism such as the citric acid cycle genes, have recently been implicated in a wide spectrum of tumour development. These genetic aberrations can disrupt the normal function of the metabolic enzymes they encode and result in a pathological accumulation of specific metabolites. The abnormal accumulation of […]
The duty to speak up
Although there have been marked advances towards gender equality in the last century, disparities persist in academia. Medicine and science are not immune to these inequalities, and through a collection of Turning Point articles published in Nature Cell Biology, thirteen women researchers were invited to provide a snapshot of their experiences. These authors were asked […]
Noncanonical secondary structures arising from non-B DNA motifs are determinants of mutagenesis
Watson and Crick described how human DNA forms a double-helical structure. However, there are motifs in the genome called non-B motifs that can form alternative folded structures called non-canonical secondary structures, and these can be detrimental when they form. As part of his PhD, Ilias Georgokopoulos-Soares showed how these non-B motifs could cause a higher […]
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