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 human fertility, stem cell biology, organism development and the cellular role of RNA. 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 six months undertaking extensive training in advanced laboratory techniques such as human cell culture, microscopy and cytogenetics before applying this knowledge to the study and diagnosis of human genetic diseases. Example research projects include:

• Clinical Functional Genomics of human peroxisomal disorders

• Diagnostic FISH for Clinical Genetics: Avoiding unnecessary invasive tests

• The role of human ribonucleoproteins (hnRNPs) in the 3D-organisation of the genome

• Culture adaptation in human lymphoblastoid cell lines: The impact of media supplementation

• Students also have the opportunity for NHS clinical work placements in the Sheffield Diagnostic Genetics Service, which is based in the Sheffield Children’s Hospital NHS Foundation Trust.