Group Leader

monkollek_bw Monkol Lek
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.

LGMD2G Foundation

Lab Members

Keryn Keryn Woodman
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.
Heather Heather Best
Heather is a Postdoctoral Associate in the Lek Lab. She completed her PhD at the University of Sydney (Australia) with A/Prof Sandra Cooper, working on gene discovery and mechanisms of disease in the myopathies. Heather is driven to understand the genetic and molecular basis of disease in the myopathies for patient diagnosis and to enable the development of effective mechanistic-based therapies.
Sander Sander Pajusalu
Sander is a postdoctoral associate in the Lek Lab. He has received his MD and PhD degrees from Tartu University, Estonia. He has also completed specialist training in clinical genetics at Tartu University Hospital. The title of his PhD thesis was “Genome-wide diagnostics of Mendelian disorders: from chromosomal microarrays to next-generation sequencing”, supervised by Prof Katrin Õunap and A/Prof Tiia Reimand.
Sander is working on developing better computational methods to aid in diagnosing rare disorder patients, as he truly believes that every patient deserves exact molecular diagnosis which then can lead to better treatment options. He is keen to take the molecular diagnostics beyond the coding regions of our genome by looking into non-coding genetic variations.
Nicole Nicole Lake
Nicole is a Postdoctoral Fellow in the Lek Lab. She was awarded her PhD from the University of Melbourne, Australia. Her PhD research, undertaken at the Murdoch Children’s Research Institute with Prof David Thorburn, focussed on using massively parallel sequencing to identify the genetic basis of mitochondrial disease. Prior to this, she completed a Master of Science (Genetics) degree at the University of Melbourne. Nicole is passionate about doing research which will improve the diagnostic rate of rare genetic diseases, and help to find elusive genetic diagnoses for patients who remain without an answer.
Justin Justin Cohen
Justin is a Postdoctoral Associate in the Lek Lab. He completed his BS at Tufts University in Boston and his PhD at Drexel University in Philadelphia where he studied the relationship between cellular senescence and neurodegenerative diseases. Now in the Lek lab, Justin studies facioscapulohumeral muscular dystrophy (FSHD), a topic close to his heart as he is a patient as well. He is hopeful that his work in the lab will contribute towards a therapy for all FSHD patients.
shushu Shushu Huang
Shushu is a visiting research scientist in the Lek Lab. She completed her MD at Nanjing Medical University, China. She has been a physician for 4 years in China, during which, she found that there were a large amount of patients with rare diseases kept undiagnosed or even undetected. She was deeply touched and intrigued by the strong passion for rare muscle disease research in the Lek Lab. With a background in the clinical medicine and treatment work, she is starved for helping undiagnosed patients find a definite diagnosis or at least getting them one step closer. Currently, Shushu is interested in analyzing genetic variants and is ready to apply her experience with clinical science to the interpretation of rare variants in certain diseases.
alec Alec DeSimone
Alec is an Associate Research Scientist in the Lek lab. He completed his PhD at Brown University with Dr. Jeffrey Laney investigating how the dynamics of transcription factor complexes allow changes in cellular phenotypes. From there he joined the laboratory of Dr. William Fairbrother as a postdoctoral associate studying both how transcription factor complexes regulate pluripotency and mechanisms of pre-mRNA splicing. He then began a second postdoctoral position in the Wellstone Muscular Dystrophy Cooperative Research Center for FSHD at the University of Massachusetts Medical School in the lab of Dr. Charles P Emerson Jr., where he studied the molecular pathways underling facioscapulohumeral muscular dystrophy. Overall, Alec in interested in understanding the cellular and molecular basis of muscle pathology and using that knowledge to design new therapeutic approaches to treat disease.
Katherine Katherine Koczwara
Katherine is a PhD student in the Lek lab. She received her BSc in Biological Sciences from the University of Notre Dame. Concentrating in both computational biology and genomics, Katherine hopes to combine these two interests to study human genetic diseases. Currently, she is investigating the application of CRISPR-Cas9 base pair editing to correct patient mutations in GNE myopathy, as well as working to establish a biobank of GNE patient cells.
Kaiyue Kaiyue Ma
Kaiyue is a BBS rotation student in the MCGD track. He received his BSc in Biosciences at University of Science and Technology of China, with a thesis titled Using Genomic Technologies Based on CRISPR to Analyze Genes and Regulatory Elements Concerning OCT4 and Human Cell Pluripotency, which was finished during an internship in the Ludwig Institute for Cancer Research in San Diego under the guidance of Prof. Bing Ren. Currently, Kaiyue is working on developing new techniques to gain more insight into muscle diseases.
Vincent Vincent Ho
Vincent is a research technician in the Lek lab. He studied at the University of Connecticut where he received his BS in psychology. He worked briefly in Yale Psychiatry researching schizophrenia treatment before transitioning to the Yale Animal Resources Center as an animal technician. Vincent is now assisting the lab in developing FSHD treatments and is excited to explore the field of genetics and myopathy research.

Affiliated Members

Wei Wei Liu
Wei is a BBS rotation student for the spring 2018 rotation. She received her BSc in Biological Science from Peking University, China. She started her bioinformatics research with a biological natural language processing project, during which, she found her interests in interdisciplinary research, tackling biological problems using computational methods. Through her undergraduate research internship in Prof. Hongyu Zhao’s lab at Yale, she discovered her enthusiasm for human genetics, developing statistical and computational methods to dissect the mechanisms behind human complex diseases, which motivated her to pursue a Ph.D. degree at Yale. She is currently interested in analyzing rare variants’ contribution to human diseases using Whole Exome Sequencing data, which drove her to join our lab for the rotation.

Rotation Students 2019

Amy Amy Zhao
Amy is a first-year MD-PhD rotation student in the Lek lab. She received her B.S. in Statistics and Data Science and Molecular, Cellular, and Developmental Biology from Yale College. From a young age, she has been passionate about both treating patients and discovering the etiology of diseases. For her summer 2019 rotation project, she is developing Yale’s Matchmaker Exchange data-sharing node, MatchY, and analyzing whole exomes of rare disease patients, including patients with thrombotic thrombocytopenic purpura.

Summer Interns 2019

Jenny Jenny Xu
Jenny is a rising high school senior interning at the Lek Lab over the summers of 2018 and 2019. From a young age, she was intrigued by human health and genetics, and is thrilled to have the opportunity to enrich her understanding beyond textbook learning. Last year, she worked in the computer lab to visualize patient mutations as well as genetic variants found in healthy people. This summer, she is excited to have the chance to gain experience in the wet lab while also working to visualize mitochondrial rRNA structures.
Lily Lily Zhou
Lily is a high school senior interning at the Lek Lab over the summer of 2019. She is excited to expand her understanding of genetics and computer science in a lab setting. Currently, she is working on the user interface as well as the back-end implementation of MatchY. She is also exploring ways to visualize genetic variants and create interactive data visualizations.
Lisa Tianxiao Wang
Tianxiao (Lisa) is a high school senior from Coral Reef High School in Miami, Florida interning at the Lek Lab over the summer of 2019. Lisa is enthusiastic for the opportunity to cooperate with others in the scientific community to work on methods to visualize mitochondrial DNA variant data. She is excited to be part of the effort to advance the understanding of rare genetic diseases, which she hopes will ultimately expedite its diagnosis in patients.

Summer Interns 2018

Alyssa Alyssa Huang
Alyssa is an undergraduate EECS major interning for the Lek Lab over summer. She has completed her second year of studies at UC Berkeley and is excited to apply her computational background to genetics. She is working on bringing graphing functionality to seqr, an open source software platform for rare disease genomics, and exploring ways to use visualization to assist with the interpretation of rare variant data.
Alyssa Jenny Xu
Jenny is a high school junior interning at the Lek Lab over the summer of 2018. From a young age, she was intrigued by the workings of genetics, and is thrilled to have the opportunity to enrich her understanding beyond textbooks. She is excited to expand her experience in the field while working to visualize patient mutations and genetic variants found in healthy people.

Rotation Students 2018

Evan Evan Cudone
Evan is a BBS rotation student in the computational biology and bioinformatics route. He received his BSc in Mathematics and in Bioinformatics at Loyola University of Chicago. With a background in metagenomics and microbial genetics, he is ready to apply his experience with sequencing data to the investigation of the genetics of neuromuscular diseases here at the Lek lab. Currently, he is looking at how sequencing bias and artifacts affect our interpretation of data in the context of identifying the genes responsible for certain rare diseases.
Oscar 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.
Jiahao Jiahao Gao
Jiahao is a BBS rotation student for the spring 2018 rotation. He received his BSc in Biological Science from Zhejiang University, China. Through his undergraduate studies, he was fascinated by programming, which lead to his furthur study in computational biology. During his research internship in Dr. Trey Ideker’s lab at UCSD, he developed interests in genomics and network biology, and got exposed to ideas about data integration. Currently, he is trying to dig into exome sequencing data to try understand fundamental biological questions, such as the function of codon bias, which drove him to join our lab for the rotation.