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. 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.

Lab Members

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.
shushu 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).
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 (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.
Katherine 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 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.
Kaiyue 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.
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.

Undergraduate students

Jenny 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 Logan Gauthier
Logan is a Yale undergraduate (class of 2025) working in the Lek Lab. She is majoring in Molecular, Cellular, and Developmental Biology (MCDB) 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 excited to delve into the field of rare muscle diseases and is immensely inspired by the Lek Lab’s passion for helping patients. She is currently working with Shushu to help genotype hDMD mutants for breeding and develop methods of correcting FKRP mutations in mice.

Lab Alumni

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.
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.
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.