Monkol Lek, PhD
Yale Medical School
Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. 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.
Dr. Louis Kunkel is an internationally recognized geneticist with years of experience and scientific success in the understanding of the basis for muscular dystrophies. He received a B.A. from Gettysburg College and his Ph.D. from Johns Hopkins University. Over the past three decades Dr. Kunkel has devoted his career to understanding the molecular basis, and developing therapy, for neuromuscular disorders. Dr. Kunkel is universally recognized for his 1986 identification of dystrophin as the causative gene in Duchenne muscular dystrophy. His current work centers on developing dystrophin independent therapies for Duchenne muscular dystrophy to complement existing therapies currently in development. He has received numerous awards for his research including membership to the National Academy of Sciences and The American Academy of Arts and Sciences. Dr. Kunkel recently received the 2009 March of Dimes Prize in Developmental Biology for this pioneering work on muscular dystrophy. He leads a long-standing effort to develop novel therapies.
Stanley F. Nelson, MD is Professor and Vice Chair of Human Genetics and Professor of Psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Prof. Nelson attended the University of Michigan and obtained a BS degree in Physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in Pediatrics and Pediatric Hematology-Oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Prof. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint. His current interest is in the development and application of technologies for whole genome sequencing and cancer genome sequencing.
Dr. Emerson received his undergraduate education at Princeton University in Biology/Biochemistry, and his graduate training at MIT and the University of California, San Diego in Cell and Molecular Biology. He then pursued postdoctoral research as an American Cancer Society Postdoctoral Fellow at the University of Virginia, where he initiated his career-long studies of skeletal myogenesis. He received his first faculty appointment in the Department of Biology at the University of Virginia and advanced to become Commonwealth Professor of Biology. His subsequent faculty appointments include: Senior Scientist at Fox Chase Cancer Center, the Joseph Leidy Professor and Chair of Cell and Developmental Biology at the University of Pennsylvania School of Medicine, Director and Senior Scientist at the Boston Biomedical Research Institute, as well as visiting scientist at the Carnegie Institution Department of Embryology and the Pasteur Institute. Dr. Emerson joined the faculty of the University of Massachusetts Medical School in 2013 as Professor of Cell and Developmental Biology and Neurology and as Director of the Wellstone Muscular Dystrophy Program. At UMMS, he has continued his investigations of skeletal muscle development, focusing on human muscle biology and muscular dystrophies. His research has been generously supported by NIH, including Career Development and Merit Awards and directorship of an NIH Wellstone Muscular Dystrophy Cooperative Research Center, and by foundations supporting cancer and muscular dystrophy research. Throughout his career, he has had many valued and productive research collaborations, he has lead NIH graduate and postdoctoral training programs in cell and developmental biology, and he has been the proud mentor to a cadre of talented graduate students and postdoctoral fellows.
Brenda Wong is deeply committed to the delivery of optimal care of patients with pediatric neuromuscular disorders through state of the art interdisciplinary clinical management and the provision of clinical and translational research opportunities for patients and families. She has 38 years of clinical experience in the care of patients with pediatric, neurological and neuromuscular disorders, 18 years’ experience of directing a successful interdisciplinary comprehensive neuromuscular care program with ~ 500 active patients with Duchenne muscular dystrophy (DMD) and 12 years of active clinical and translational research in DMD.
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.
Angela Lek is an Associate Research Scientist at Yale University with extensive experience in elucidating the molecular mechanisms of neuromuscular diseases. She completed her PhD in the University of Sydney studying Limb Girdle Muscular Dystrophy, and her postdoctoral training at Boston Children’s Hospital and Harvard Medical School studying Facioscapulohumeral Dystrophy. Her research focus includes genetics and translational research, specifically using patient cells for gene editing and drug screening. In addition to her day job in the lab, Angela is also a full-time carer for her husband who has been diagnosed with a neuromuscular disease, and she is also passionate about patient advocacy and scientific communication to the patient community.