People

Aloy’s research focuses on the molecular genetic mechanisms surrounding dystonia, including of  X-linked dystonia-parkinsonism (XDP), a unique neurogenetic degenerative disease found mainly in his home country, the Philippines. He obtained his medical degree and residency in clinical neurology from the University of the Philippines. He then pursued a neurogenetics PhD at the University of Lübeck in Germany where he worked on elucidating the genetic basis of XDP. Aloy’s training in the Talkowski lab involves cell/molecular biology and functional genomics approaches, as his experiments apply genome editing and RNAseq to identify altered signatures in cell models of THAP1-dystonia, XDP, and other dystonic disorders.

Jack received his PhD in Biostatistics from Johns Hopkins working with Drs. Ingo Ruczinski, Jeffrey T. Leek, and Robert B. Scharpf. While there, he worked primarily on methods development for an array of genetic sequencing data, including rare deletion detection and association using whole exome sequencing of familial pedigrees, linear modeling of RNA-seq transcript abundances, and de novo copy number variant detection using targeted sequencing trios. With the Talkowski lab, Jack will be investigating the detection of copy number and structural variants, as well as their implications for human health.

Nehir got her MSc degree in Molecular Mechanisms of Disease at Radboud University Nijmegen. In 2019, she received her PhD in Genetics, Molecular and Cellular Biology from University of Pavia. By combining whole genome sequencing and cytogenetics data, she studied the nature of constitutional complex chromosomal rearrangements. Her doctoral studies focused on characterization of chromothripsis like events as a formation mechanism of small supernumerary marker chromosomes. With Talkowski lab, she is looking forward to investigating hidden complexity in the human genome and its role in congenital defects. For her future studies, she would like to tackle the ambiguity in genotype-phenotype correlation in cases with numerically and structurally abnormal chromosomes.

Mariana joined the Talkowski lab in November 2018, after receiving her PhD in Medical Science at Federal University of São Paulo, in Brazil, and conducting a research internship at University of Lausanne, in Switzerland. As a Postdoctoral Fellow in Talkowski laboratory and Autism Speaks Fellow, Mariana is currently focused on the impact of chromatin remodelers on neurodevelopmental disorders by generating genomic alterations in cellular systems to address the etiology of human neurological phenotypes. She is CRISPR engineering human isogenic pluripotent lines with variants on genes associated with autism, differentiating those models into neuronal lines and addressing the molecular signatures followed by the disruption of these genes.

Kiana is a PhD candidate in the Biological and Biomedical Sciences (BBS) program at Harvard Medical School and an NSF graduate research fellow. Kiana joined the Talkowski Lab in the Fall of 2016 with an interest in understanding the functional impact of structural variation. In her thesis work, Kiana has generated and differentiated various types of genome edited cell lines to study the effects of chromosomal rearrangements on 3D chromatin organization and gene expression in neurodevelopmental disorders. Kiana’s interest in the study of structural variation began in her post-baccalaureate work in the lab of Dr. Evan Eichler, with whom she worked for over three years after completing her undergraduate studies in Cell and Molecular Biology at the University of Washington in 2012. In her post-baccalaureate work, Kiana led efforts to identify and characterize the disease implications and evolutionary history of various structural variant classes, work that has driven her interests in the Talkowski Lab as well. Outside of the lab, Kiana is actively involved in science outreach and mentoring.

Outside of the lab, Kiana is actively involved in science outreach and mentoring.

Elise is a PhD candidate in the Biological and Biomedical Sciences program at Harvard Medical School and is supported by an F31 predoctoral fellowship. Her thesis work focuses on genetic diagnostic testing and mosaic variation. Elise graduated from St. Mary’s College of Maryland with a bachelor’s degree in Biology and before attending graduate school, she spent two years as a post-bac at the NIH Undiagnosed Diseases Program followed by two years as an associate computational biologist at the Broad Institute in the lab of Dr. Daniel MacArthur. This research gave her exposure to bioinformatics and Mendelian disease genetics, work she will expand upon during her graduate studies.

Derek joined Dr. Gusella and Dr. Talkowski’s laboratory at the Center for Genomic Medicine in October 2013 as a postdoctoral fellow. During his postdoctoral work, he developed a CRISPR/Cas9 genome engineering approach, SCORE, to model reciprocal genomic disorders (RGDs) by mimicking the in vivo non-allelic homologous recombination (NAHR) mechanism. His current research focuses on the RGDs including 16p11.2, 15q13.3, and 15q11.2-13.1 which are associated with ASD, schizophrenia, intellectual disability, PWS, obesity, Dup15q syndrome and AS. We have successfully established the human isogenic iPSC and derivative neuron models for these RGDs in the lab. We aim to identify the critical components of the RGDs by evaluating the molecular, cellular, and functional alterations from global and individual gene deletion models.

Rachita got her training in bioinformatics in India and completed her PhD at Denmark Technical University, Denmark focusing on understanding the effect of genetic, epigenetic and clinical variations on the molecular mechanisms in complex phenotypes. Her current research focus is the integration of multi-dimensional genomics datasets associated with the genetic etiology of neurological disorders. She is developing integrated methods for reference-based and reference–free genome analyses to identify known and novel genomic variation of predicted functional relevance. The pathogenesis of neurological disorders often involves multiple genes, complex interactions thus, the functional genomics aspect of hey project employs genome-wide and targeted transcriptomics analysis of neural cell lines and post-mortem brains from different neurological disorders to investigate pathological mechanisms.

Celine de Esch is a research scientist in Mike Talkowsi’s laboratory at Massachusetts General Hospital in Boston. She received her PhD from the Erasmus University Rotterdam, the Netherlands in 2014 and joined the lab as a postdoc early 2015. Her work focuses on the cellular modeling of neurodevelopmental disorders such as Fragile X syndrome, ASD and Prader-Willi syndrome.

Serkan is director of bioinformatics, responsible for bioinformatics activities in the Talkowski Lab and Genomics & Technology Core. His research interests lie in the areas of computational biology, functional genomics and neuroscience. He is primarily involved in computational functional genomic analyses in the context of neuro-degenerative and neuro-developmental disorder. In this respect, he has been working on functional genomic characterization of autism-associated genes and copy number variations in human neural lineage lines and mouse models. He also contributed to several other genetic and functional genomic studies on other neurological disorders including Huntington’s disease and neurofibromatosis types I and II.  He was recruited to the lab as a staff scientist following a postdoctoral fellowship at the Computational and Integrative Biomedical Research Center and the Department of Molecular and Human Genetics at Baylor College of Medicine where he worked on protein function-structure relationships and chromatin function. Before he switched his research focus to biology, he conducted research in computational and physical chemistry at the University of Minnesota and Argonne National Laboratory. Serkan holds a B.S. degree in physics from Bogazici University and a Ph.D. degree in theoretical physics from Texas A&M University. During his training, he was awarded competitive fellowships from the Supercomputing Institute of the University of Minnesota, the National Institute of Health and the National Library of Medicine.

Jack received his Bachelor of Science from Loyola University of Maryland in May of 2020. After graduating he worked as a manufacturing associate at Catalent where he assisted with the production of an adeno associated viral vector for spinal muscular atrophy in the company’s gene therapy division. Jack also spent the summer of 2019 as an intern in the Talkowski lab where he worked with Philip Boone and Kiana Mohajerioptimizing CRISPR and ChIP-seq protocols.

Yating joined the Talkowski Lab in July 2021. She obtained a bachelor’s degree in Biology and a master’s degree in Computer Science with a focus in bioinformatics. After graduation, she joined the Elgin lab at Washington University in St. Louis in 2016 and worked as a bioinformatics application developer focusing on the development of G-OnRamp – an integrated, web-based, scalable environment for interactive gene annotation of eukaryotic genomes. From 2018 to present, she has been working as a bioinformatics scientist in the Dougherty lab in Washington University School of Medicine in St. Louis and has contributed to multiple research projects in the fields of genomics and psychiatric disease research by conducting a variety of bioinformatics analyses, creating a microRNA database, and developing scientific pipelines.

Monica holds a Ph.D. in Cell Biology and a B.S. in Biology from the University “La Sapienza” in Rome, Italy. Monica did her postdoctoral research at the University of Massachusetts Medical School in Worcester, where she studied the molecular mechanism underlying Facioscapulohumeral Muscular Dystrophy (FSHD), a human disease caused by a complex intertwined interaction between genetic and epigenetic factors. After her post-doc, Monica joined the laboratory of Dr. Susan Slaugenhaupt here at the Center for Genomic Medicine. At MGH, both as a research scientist and lab manager, she contributed to the success of several collaborative research projects aimed to develop a therapeutic approach for the ultra-rare disease Familial Dysautonomia (FD). FD is a sensory and autonomic neuropathy caused by an mRNA splicing defect. This work culminated successfully with the identification of a splicing modulator compound that is in clinical development. Monica joined the Talkoski laboratory in March 2020 as Project Manager, to oversee projects, milestones, and collaborations, as well as helping with strategic planning, funding decisions, budgets, and funding portfolio.

Jaeweon joined the Talkowski lab in February 2020 as a bioinformatics specialist. He received a B.A. in Mathematics from Rice University. While pursuing his degree, Jaeweon participated in research studying the evolution of societies in the Holocene and the rare cell subset detection from scRNA data. At the Center for Genomic Medicine, his work focuses on transcriptome analysis.

Hsin-Lan received her M.S. and Ph.D. at Yang-Ming University in Taiwan. For her M.S. and Ph.D research, she explored the molecular and cellular mechanisms involved in the development of Spinal muscular atrophy. At Academia Sinica, where she worked and studied under the mentorship of Dr. Hung Li who published the first SMA mouse model among the literatures, she had training in molecular and cell biology. She analyzed the role of microtubule destabilizing factor associated with disease severity by using the in vitro and in vivo models and generating in vitro models for compound screening as well. She continued studying the field of neuron degeneration disease in her first postdoc career, and then shortly stayed in Boston Children Hospital as research fellow, where she conducted research about the molecular mechanism of synapse formations by using FGF22 and FGF7 knockout mice. In Li- Huei Tsai’s lab, she utilized iPSC technology to model various cell types involved in neurodegenerative disease. In this context, she utilized CRISPR-Cas9 to generate isogenic lines to help determine gene-specific function on Alzheimer’s disease. Within the Tsai lab, she was also involved in combinatorial cell culture with other projects such as an iPS-derived blood brain barrier and our lab’s development of an iPS “mini-brain”.

Chris joined the lab in 2021 and has worked at the Broad Institute since 2014 in the Broad’s Data Sciences Platform and Stanley Center for Psychiatric Research. Chris focuses on the development of methods for genomic structural variation and copy number variation detection and is a Technical Lead for the development of structural variation methods within the Genome Analysis Toolkit (GATK). He has contributed to and led methods development and analysis projects aimed at understanding patterns of structural variation in human populations, structural variation mutation rates, and the association of copy number variation with human disease. Prior to joining the Talkowski lab he was a member of Steven McCarroll’s lab at the Stanley Center and Harvard Medical School. He holds a Ph.D. in Computer Science, with a focus on computational biology, from Oregon Health & Science University, and an A.B. in Computer Science from Harvard University.

Tatsiana received her bachelor degree in Applied Mathematics and Informatics with focus on Theory of Probabilities and Statistics from Belarusian State University in 2007. She continued her education in Norway, applying her knowledge of mathematical modeling to the field of logistics and production planning, and further worked for several years in traffic flows optimization and software development in academia and in industry. In 2012 Tatsiana joined a PhD program in Molecular Oncology, working on application of bioinformatics and statistics for transcriptional profiling (microarrays and RNA-seq). During her PhD she has worked on discovering molecular mechanisms of anti-leukemic effects of glucocorticoids in pediatric acute lymphoblastic leukemia.

Tatsiana finds it highly fascinating how the data can provide us with answers of pathophysiology of complex genetic diseases, and therefore she is looking forward to continue her work at Talkowski lab, discovering molecular mechanisms underlying neurodevelopmental disorders through statistical analyses of genomics data produced by NGS technology.

Paulina joined the Talkowski lab in June 2021 as a Research Technician in the Genomics and Technology Core. She received her B.S. in Chemistry and Neuroscience with a minor in Biology from University of North Carolina at Chapel Hill in 2021. During her undergraduate degree Paulina has done research focused on oncologic drug testing and on genes implicated in Autism Spectrum Disorder.  At the Center for Genomic Medicine, she performs various molecular genomic based experiments.

Harold Wang joined the Talkowski laboratory in 2016 as a Bioinformatic Specialist with a Master’s in Computation Biology and Quantitative Genetics from Harvard University School of Public Health, and a B.A. in Mathematics from Princeton University. His work focuses on using computational methods to detect disease relevant structural variations from genomics data. Harold left the lab in August 2020 to attend graduate school at UCLA.