820 Sherbrooke St
I am a clinician scientist at the University of Manitoba in Canada. My clinical practice includes a wide range of general and metabolic genetics although my focus is neuromuscular and neurodegenerative diseases. My research is directed at identification of novel disease genes and finding ways to better utilize next generation sequencing in clinical practice.
I was a clinical and research fellow at the John Walton Muscular Dystrophy Research Centre. I was mainly trying to solve complex clinical cases using next generation sequencing. In the clinical realm I had the opportunity to see large numbers of patients with very rare neuromuscular conditions from all over the UK. The experience I gained in Newcastle has made me into a better clinician and researcher.
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K. Am J Hum Genet. 2002 Mar;70(3):663-72. Epub 2002 Jan 29. PMID: 11822024