Studying chromosomes involves many fields e.g. sex determination, cancer, infertility, pregnancy loss and birth defects. In a 30-year research career Darren Griffin’s lab has contributed to all these disciplines. The most notable, world-leading work being in the diagnosis of chromosomal disease in IVF embryos and in tracing evolutionary changes during bird evolution. The recent revelation that birds are dinosaurs sparked interest into an already exciting field. Already the world leader in bird chromosomes the lab took the challenge of establishing what the karyotypes all of dinosaurs looked like. The work is rooted in a well-funded research programme taking avian genome sequences and anchoring to chromosomes. Studying the chromosomal basis of reproduction, we established a world-leading programme of chromosomal screening (including IVF embryos), raising the question of whether mechanisms of evolutionary chromosome change can also lead to genetic disease. In human IVF, genetic screening is targeted either to single gene disorders or to a few chromosomes. The “holy grail” is to develop a universal test to detect all chromosome and single gene disorders simultaneously. The potential for extending such a test for the improvement of agriculture became apparent recently, with leading food producers harnessing the technology to help feed a growing global population.
Essential research questions
• Can we map chromosomal changes that occurred during bird evolution, anchor those to newly sequenced genomes and determine the gross genome organization of dinosaurs?
• Can we generate tools for the diagnosis of chromosome disorders that cause fertility problems and harness this technology generate real world impact (e.g. outreach, new products, public policy, improving IVF, disease screening, optimising food quality, improving public health)?
• Can we create a unique multi-disciplinary environment with an outward-facing international profile, linking many diverse disciplines?
We regularly run short courses in IVF technology as well as molecular cytogenetics
We have a screening programme for animal cytogenetics including karyotyping and FISH and can provide training in this area, indeed we regualrly host visiting scientists for this purpose
Wee regualrly host sc eintists interested in non human IVF
Genome analysis especially in new assenbly mechamisms
New technologies with respect to environmental genomics
3D and 4D analyses of nuclei for nuclear organization studies
1) Volker M; Backstrom N; Skinner BM; Langley EJ; Bunzey SK; Ellegren H; Griffin DK (2010). Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Research 20:503-511
2) Handyside, AH, Thornhill, AR, Harton, GL, Mariani, B, Shaw, MA, Affara, N, Griffin DK (2010). Karyomapping: a novel molecular karyotyping method based on mapping crossovers between parental haplotypes with broad applications for preimplantation genetic diagnosis of inherited disease. Journal of Medical Genetics 47: 651-658
3) Romanov MN, Farré M, Lithgow PE, Fowler KE, Skinner BM, O Connor R, Fonseka G, Backström N, Matsuda Y, Nishida C, Houde P, Jarvis ED, Ellegren H, Burt DW, Larkin DM, Griffin DK. Reconstruction of gross avian genome structure, organization and evolution suggests that the chicken lineage most closely resembles the dinosaur avian ancestor. BMC Genomics. 2014 Dec 11;15(1):1060
4) Damas J, O'Connor R, Farré M, Lenis VPE, Martell HJ, Mandawala A, Fowler K, Joseph S, Swain MT, Griffin DK, Larkin DM. Upgrading short-read animal genome assemblies to chromosome level using comparative genomics and a universal probe set. Genome Res. 2017 May;27(5):875-884
5) O'Connor RE, Romanov MN, Kiazim LG, Barrett PM, Farré M, Damas J, Ferguson-Smith M, Valenzuela N, Larkin DM, Griffin DK. Reconstruction of the diapsid ancestral genome permits chromosome evolution tracing in avian and non-avian dinosaurs. Nat Commun. 2018 May 21;9(1):1883.