Group Leader

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. Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G/LGMDR7). His research group is dedicated to research all aspects of the full patient journey. @theFourier2k

Trainees and Research Scientists

	Shushu Huang Shushu is an Associate Research Scientist in the Lek Lab. She completed her MD at Nanjing Medical University, China, and then worked as a physician for 4 years in China. During her clinical work, she found many 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. Since joining the Lek Lab, Shushu has applied her clinical knowledge and experience to the interpretation of rare variants and helped patients harboring rare genetic mutations find their molecular diagnoses. Currently, she is interested in improving the interpretation of variants in Sarcoglycanopathies and dedicates herself to individualized gene therapy for rare muscular diseases with a current focus on Duchenne Muscular Dystrophy (DMD) and Limb Girdle Muscular Dystrophy (LGMD2I/R9). @huang_shushu
	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. @NicoleLake
	Justin Cohen Justin is a Postdoctoral (NIH F32) Fellow 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. This passion has extended towards advocacy for people with disabilities in general by serving on the Yale Genetics Diversity Advisory Committee (GDAC) from 2020 to 2022, pushing towards improving accessibility around campus. @TheChair1130
	Qi Zhang Qi is a Postdoctoral Fellow in the Lek Lab. He was awarded his PhD and MD from Capital Medical University, China. His PhD research, undertaken at Key Laboratory of Cancer FSMP for State Market Regulation with Prof. Hanping Shi, focused on tumor and muscle metabolism and biomarker for patients. Qi is passionate about doing research which will improve the aging metabolism and tissue injury recovery. Now in the lek lab, Qi studies facioscapulohumeral muscular dystrophy (FSHD), and is interested in individualized gene therapy for muscular diseases.
	Lin Ge Lin is a postdoctoral associate in the Lek Lab. She received her PhD at Peking University, supervised by Prof. Hui Xiong, and then completed her neurology residency training at the National Center for Children’s Health, China. Lin has focused on both clinical and basic research in neuromuscular disorders since the graduate stage. As a pediatric neurologist, she cares for every aspect of the full patient journey. At the same time, she witnessed the revolutionary breakthroughs in medical genetics that have brought transformative advancements in patient diagnosis and therapeutic approaches. By joining the Lek Lab, she hopes to make her own contributions. Lin is currently working on gene therapies on Duchenne Muscular Dystrophy and improving the interpretation of variants in Dystroglycanopathies.
	Katherine Koczwara Katherine is a PhD candidate in the Lek lab at Yale University. She received her BSc in Biological Sciences from the University of Notre Dame, with a research focus on human genetic diseases. Her current graduate research centers around GNE myopathy (GNE-M), in which she is establishing a biobank of GNE-M patient cell lines, creating an AAV gene therapy for GNE-M, and developing disease-relevant assays. Katherine hopes to continue working in the rare genetic disease space following completion of her graduate training.
	Kaiyue Ma Kaiyue is a PhD candidate in the Genetics department of Yale University. He received his BSc in Biosciences at University of Science and Technology of China. Kaiyue’s PhD thesis topic is Improving the Interpretation of Rare Variants in the Context of the Dystrophin Glycoprotein Complex. In addition, Kaiyue has a great interest in applying novel techniques to developing treatments for diseases.
	Kenneth Ng Kenneth is a PhD student in the Lek lab and Brueckner lab. He completed his BSc in Life Sciences at the National University of Singapore. Transitioning from a mostly experimental background to computational genetics, he is passionate about leveraging large-scale sequencing cohorts and cutting-edge computational techniques to understand disease etiology. He is currently working on the Pediatrics Cardiac Genomics Consortium (PCGC), the largest collection of patients with congenital heart disease, to investigate the much-unknown genetic architecture of congenital heart disease.
	Andrew Jia Andrew is a PhD student in the Computational Biology and Bioinformatics program at Yale University. He completed his BSc in Computational Biology at the University of Pittsburgh and is interested in understanding the complex relationship between genetics and disease susceptibility. He is currently working on statistical methods to identify trait associated variants through overdispersion analysis to ultimately contribute to better understanding of disease mechanisms.

Lab Staff

Christine O’Connor Christine is the lab manager and a research associate in the Lek Lab. She received her Bachelor of Science from the University of Connecticut and her Master’s degree at Harvard University with a focus in genetics. She worked at the Broad Institute of MIT and Harvard, where she was a key catalyst in a study of BAC end sequencing for the Human Genome Project. After relocating to Connecticut, Christine worked in the Rheumatology department at the Yale Medical School where she studied the pathogenesis of Cerebral Malaria. Christine spent time at home raising her three children and is excited to be back in academia. She is dedicated to better understanding the genetic disposition of disease and is focused on helping to find cures for rare disease patients.

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.

Undergraduate students

	Jenny Xu Jenny is a Yale undergraduate (class of 2024) in the Lek Lab. She is majoring in Molecular, Cellular and Developmental Biology (MCDB) with a certificate in Computer Programming. Fascinated from a young age by human health and genetics, she is excited to learn more about the field of rare muscle disease research and apply both computational and experimental techniques to help patients. Currently, she is working to develop and characterize methods to correct mutations in FKRP, and to create data visualizations in order to improve accessibility to disease information.
	Logan Gauthier Logan is a Yale undergraduate (class of 2025) working in the Lek Lab. She is double majoring in Molecular, Cellular, and Developmental Biology (MCDB) and Psychology on the pre-med track and has long been interested in the genetics of disease pathology. Having previously conducted genetic research at Tufts University on a rare neurodegenerative disease, CANVAS, Logan is enjoying delving into the field of rare muscle disease and is immensely inspired by the Lek Lab’s passion for helping patients. She is currently working with Kaiyue to design a gene-editing therapeutic for Limb-Girdle Muscular Dystrophy Type 2A caused by a c.550delA mutation in the CAPN3 gene. The project aims to develop a template-free method of restoring the reading frame and calpain-3 protein production.
	Denise Peng Denise is a Yale undergraduate (2025) in the Lek Lab. She is majoring in Molecular, Cellular, and Developmental Biology (MCDB), currently on the pre-medical track. Having spent some time at a Molecular Biophysics and Biochemistry lab at Yale investigating the role of actin filament networks in glutamate receptors, Denise looks forward to working in the genetics department studying muscle disorders. She especially admires the Lek Lab’s initiative in translating research discoveries into clinical applications. In the lab, she is working with Shushu on a gene therapy for limb-girdle muscular dystrophy R9/2I and is excited for its future direction.

Lab Alumni

	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. @KerynWoodman
	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. @sanderpajusalu
	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.
	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.