Course summary

Explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels. Course description Designed in collaboration with the NHS: Sheffield Diagnostic Genetics Service, this course is for students who are fascinated by medical genetics. Through theoretical and hands-on practical skills training you’ll explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels. You’ll also have opportunities to explore the wider implications of genetics in fields such as genomics, human fertility, stem cells and cancer biology through your lectures and NHS placement opportunities. Practical laboratory experience is at the core of our teaching and you’ll spend more than half of your studies based in the lab. Here you’ll complete training modules covering a wide range of exciting modern laboratory techniques. First you'll learn core skills such as molecular cloning, microorganism handling, DNA sequence analysis, PCR, SDS-PAGE, western blotting and CRISPR. You’ll then complete competence based training in specialist techniques such as human cell culture, cytogenetics, fluorescence microscopy and qPCR. Clinical research projects and NHS placements The biggest part of your course is the research project and NHS placement opportunities that we’re proud to offer in collaboration with the Julia Garnham Centre. The Julia Garnham Centre is based in the School of Biosciences and provides students with essential experience and training in genetic analysis, upskilling the next generation of genomic scientists and technologists. After initial training, you’ll work under the supervision of NHS Geneticists from the Sheffield Children's NHS Foundation Trust to support the NHS in dealing with cancer and rare diseases backlogs. You’ll also generate real data which will form the foundation of your MSc clinical research project in the laboratory. Thanks to these two complementary activities, you’ll spend up to five months applying your knowledge and extensive practical skill set to the study and diagnosis of human genetic diseases. Example previous research projects include:

• Hunting new pathogenic variants underpinning rare musculoskeletal diseases

• FLT3 screening of MDS backlogs to identify patients at greatest risk of progression

• Hunting new pathogenic variants underpinning rare respiratory diseases

• Genomic haemato-oncology diagnostics: Improving patient outcomes for the Myelodysplastic Syndromes (MDS)