Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute . He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.
Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.
He started his our research group at the Yale School of Medicine, Department of Genetics in January 2018.
Keryn is a postdoctoral associate in the Lek Lab. She completed her PhD at the University of Melbourne (Australia) with Dr Jason White and looked into the use of novel compounds for the treatment of Duchenne Muscular Dystrophy. Keen to expand her knowledge and remain in muscle research she completed a 1.5 year postdoc position at the Ohio State University with Dr Jill Rafael-Fortney looking at the role of aldosterone signalling in both acute and chronic muscle injury as well as developing a new model to study cardiomyopathy in Duchenne Muscular Dystrophy. Overall Keryn is incredibly passionate about developing skills and knowledge related to neuromuscular diseases with this translating into potential diagnoses and treatments for patients.
|Oscar Chavez Ibanez
Oscar is a BBS rotation student for the Winter 2018 rotation. He received his Hons BSc in Behavioural Genetics and Neurobiology from the University of Toronto. In addition, he completed a MSc program from Imperial College London in Human Molecular Genetics. During his studies, he developed a keen interest in Human Genetics, which motivated him to join our lab. He has found this to be a fascinating experience as it allows him to conduct innovative research on neuromuscular diseases and develop the necessary skills for an outstanding scientific career. Oscar is thrilled to apply the knowledge acquired during his master’s program to elucidate how genetic heterogeneity can help us improve the application of personalized medicine.