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. As part of your course, we’ll train you in a wide range of exciting, modern laboratory techniques, including CRISPR genome editing, molecular cloning, organism handling, DNA sequence analysis, PCR, SDS-PAGE and western blotting. The biggest part of your course is the medical genetics laboratory project. Here you’ll spend up to six months undertaking extensive training in advanced laboratory techniques such as human cell culture, microscopy,cytogenetics and qPCR and applying this knowledge to the study and diagnosis of human genetic diseases. Example research projects include: Clinical Functional Genomics of human peroxisomal disorders The role of RNA regulatory proteins in telomere homeostasis and genome stability Genomic Haemato-Oncology Diagnostics: Improving Patient Outcomes The role of human ribonucleoproteins (hnRNPs) in the 3D-organisation of the genome NHS placements There are opportunities to participate in NHS placements via our collaboration with the Julia Garnham Centre based in the School of Biosciences. The centre provides students with essential experience and training in genetic analysis, upskilling the next generation of genomic scientists and technologists. After initial training, placement students will work under the supervision of NHS Geneticists from the Sheffield Children's NHS Foundation Trust to prepare cases for NHS Healthcare Scientists to analyse.