Genetics Virtual Week 2021

Dr. Shawn C. Baker is the Chief Science Officer and co-founder of AllSeq. Having received his Ph.D. at the University of California - Davis, he started his career as a Research Scientist at Illumina when it was a 15-person startup. After spending several years at the bench ... developing gene expression array products, he transitioned to Product Marketing where he led a team in charge of Illuminas Expression and Regulation sequencing portfolio. In 2013 Dr. Baker co-founded AllSeq, establishing the only true sequencing marketplace, matching researchers with service providers based on their needs.

Agnieszka is currently a Staff Scientist and Laboratory Manager at TessArae, LLC in Sterling, VA, USA. She obtained her PhD at the University of Queensland in Australia in a field of biochemistry, and subsequently worked as a post-doctoral fellow at Queen's University of Belfast ... University of Queensland and Institute for Molecular Biosciences. Since 2005 until 2008 she held a continuing appointment as a lecturer in a School of Dentistry at the University of Queensland and established her own laboratory in area of functional genomics and metabonomics. She has over 10 years of experience in molecular biology, genetics, genomics, biochemistry, microbiology and metabonomics. In addition she has experience as a science writer. Recently Agnieszka served on the Council of the Australian Society for Biochemistry and Molecular Biology and is still active in the society. Currently she is working on novel diagnostic assays for infectious diseases using microarray re-sequencing technology.

Dr. Sarah H. Elsea is an Associate Professor of Molecular and Human Genetics at Baylor College of Medicine and is Senior Division Director of Biochemical Genetics at Baylor Genetics. Dr. Elsea earned a B.S. in chemistry from Missouri State University and Ph.D. in biochemistry ... from Vanderbilt University. She completed postdoctoral training in molecular and biochemical genetics at Baylor College of Medicine and is a board-certified geneticist through the American Board of Medical Genetics and Genomics. Her research is focused on the discovery, pathomechanisms, diagnosis, and treatment of rare disease, particularly neurodevelopmental disorders that are complicated by circadian rhythm abnormalities and metabolic disturbances. She has been instrumental in the push for precision medicine with the development of clinical metabolomics for the diagnosis of rare disease, particularly coupled with whole exome data. She is a member of several professional societies and has authored more than 80 scientific and lay articles.

Dr. Emily Hollister is a microbial ecologist and serves as the Vice President for Information Technology & Analytics at Diversigen, Inc. Prior to joining Diversigen, Dr. Hollister served as an Assistant Professor in the Department of Pathology & Immunology at Baylor College of ... Medicine and as the Director of Microbial Ecology and Bioinformatics at the Texas Children's Microbiome Center at Texas Children's Hospital. Her microbiome experience ranges from soils and biofuel production systems to the human microbiome, built environment, and pre-clinical models of disease.

Eugean Jiwanmall's past professional experiences include basic science and clinical research. In his current role as a Senior Research Analyst for Medical Policy & Technology Evaluation at Independence Blue Cross' Claim Payment Policy Department within Facilitated Health ... Networks, he has served as the subject-matter-expert, writer, reviewer, communicator, presenter, consultant, & decision-maker for hundreds of medical policy topics & technology assessments within dozens of clinical disciplines & multiple business areas. Eugean is finishing graduate work in bioethics at the University of Pennsylvania School of Medicine. He holds a bachelor's degree in biological sciences with honors from Drexel University (minor was in business administration), a master's degree of public health in evaluative clinical sciences from Dartmouth Medical School, and an MBA in health care management and economics with honors from Drexel University.

Jonas Korlach was appointed Chief Scientific Officer of Pacific Biosciences in July 2012. He was previously a Scientific Fellow, supporting commercial development of the PacBio RS II system and performing research aimed at developing new applications for SMRT technologies. He ... co-invented the SMRT technology with Stephen Turner, Ph.D., Pacific Biosciences Founder and Chief Technology Officer, when the two were graduate students at Cornell University. Dr. Korlach joined Pacific Biosciences as the company's eighth employee in 2004. Previously, he was a Postdoctoral Researcher at Cornell University. Dr. Korlach is the recipient of multiple grants, an inventor on 70 issued U.S. patents and 61 international patents, and an author of over 70 scientific studies on the principles and applications of SMRT technology, including publications in Nature, Science, and PNAS. In 2013, Dr. Korlach was honored by the Obama White House as an Immigrant Innovator "Champion of Change." He received both his Ph.D. and his M.S. degrees in Biochemistry, Molecular and Cell Biology from Cornell, and received M.S. and B.A. degrees in Biological Sciences from Humboldt University in Berlin, Germany.

Tatjana is an immunologist with more than two decades of experience working at biotech and pharma companies from start-ups to large global corporations ( Pfizer,Inc. being the latest), contributing significantly to team efforts and successes of more than thirty early and clinical ... stage programs and several commercial products and biosimilars.

Molly McGinniss, MS, LCGC is a Senior Market Development Manager for Illumina's "Healthy Genome Initiatives" team. Her current role focuses on advancing the use of whole genome sequencing in clinical care by providing access and education to healthy individuals through the ... Understand Your Genome programs, MyGenome visualization software, and other research initiatives. Molly began her career at UC Davis Medical Center as a pediatric genetic counselor, developing a specialty in metabolic genetics and neurodevelopmental disorders. Later, she worked at Kaiser Permanente in Sacramento where she provided prenatal, pediatric, and adult genetic counseling services. Molly received her B.S in Biology from Loyola Marymount University in 2005 and her M.S. in Genetic Counseling from Boston University in 2009. Molly is an Adjunct Professor in the Genetic Counseling Department at Augustana University and holds leadership roles in the National Society of Genetic Counselors' Industry and Personalized Medicine Special Interest Group.

John Quackenbush is Professor of Computational Biology and Bioinformatics and Chair of the Department of Biostatistics at the Harvard TH Chan School of Public Health and Professor of Biostatistics and Computational Biology at the Dana-Farber Cancer Institute. John's PhD was in ... Theoretical Physics, in 1992 he received a fellowship from the National Institutes of Health to work on the Human Genome Project, which led him from the Salk Institute to Stanford University to The Institute for Genomic Research (TIGR) before moving to Harvard in 2005. He currently directs the Computational Biology and Quantitative Genetics MS program and is PI of the BD2K Training Grant at HSPH. John's research uses massive data from DNA sequencing and other assays to model functional networks in human cells. By comparing networks between groups of individuals, he has found new drug targets, explored chemotherapy resistance, and investigated differences between the sexes. He has received numerous awards for his work, including recognition in 2013 as a White House Open Science Champion of Change. He is also the co-founder of Genospace, a precision medicine software company that was purchased by the Hospital Corporation of America in 2017.

Dr. Fritz Sedlazeck completed his PhD in 2012 in the group of Dr. Arndt von Haeseler at the Max F. Perutz Laboratory in Vienna. After a two year postdoc, he transitioned to the lab of Dr. Michael Schatz at Cold Spring Harbor Laboratory and later to Johns Hopkins University. Since ... 2017 he leads his own group at the Human Genome Sequencing Centre at Baylor College of Medicine. His research focuses on developing computational methods to detect and analyse genomic variations with a focus on Structural Variations. Structural Variations are genomic events that manipulate multiple positions in a genome, which impact evolution, genomic disorders, regulation as well as play an important role in explaining multiple phenotypes.

Dr. Tao Wu received his B.S. from Nankai University a leading academic institution in China. In his last year at college, his reading of "What Is Life? The Physical Aspect of the Living Cell" (by physicist Erwin Schrödinger, 1944) inspired him to pursue a career in deciphering ... the physical principles of biological systems. In 2003, Tao joined the Institute of Biophysics, Chinese Academy of Sciences (Beijing), where he was mentored by Prof. Runsheng Chen a founding father of genomics and bioinformatics research in China. Under his tutelage, Tao started to investigate the function and mechanisms of genome "Dark Matter" (i.e., non-coding RNAs) in C. elegans and human cancer models. During this training, Tao developed expertise in bioinformatics, genomics, and systems biology. He built one of the first non-coding-RNA-protein interaction databases (NPInter) [1] and subsequently developed a linear time-ordered computational model which was used to estimate the cell states during differentiation, reprogramming, or tumorigenesis [2-4]. To pinpoint the regulatory mechanism of non-coding RNAs during development in C. elegans, Tao led a project to systematically characterize the elements of non-coding RNAs transcriptional regulation with the DNaseI-Hypersensitive-Sites method in 2008, presaging the larger efforts as part of the modENCODE projects [5]. In the last year at graduate school, Tao began to tackle the question of how do cells commit to different cell fates with the same genomic DNA information? In 2010, Tao joined the newly established lab of Dr. Andrew Xiao at Yale to study epigenetics as a potential answer to this question. There, Tao utilized biochemistry and epigenetics approaches to complement his genomics expertise to tackle this problem. He applied these approaches to address the fundamental questions in the context of stem cell and Induced Pluripotent Stem Cell (iPSC) reprogramming. Identifying better biomarkers for assessing iPSC quality is an important goal for moving to clinical application. Instead of using transcriptional profiling or well-known histone modification markers, Tao discovered that an "epigenomic pattern mutation" of histone variants is essential for explaining the developmental variability of iPSCs. Tao discovered H2A.X, a histone variant of H2A that is usually involved in the DNA damage repair could mediate repression of extraembryonic lineage gene expression in embryonic stem cells (ESCs). He found that genomic deposition defects (called "epigenomic pattern mutation") frequently occur in the low-quality iPSC lines, whereas its deposition recapitulates the ESC's pattern in the high-quality iPSCs. The epigenomic pattern mutation of H2A.X leads to aberrant expression of extraembryonic lineage genes in low-quality iPSCs (which mimics the phenotype of H2A.X-knockout ESCs) and predisposes them to extraembryonic lineage differentiation in vitro and in vivo [6-8]. This work may pave the way for improved clinical application of iPSCs in regenerative medicine. Following up on this discovery, Tao continued to dissect the mechanism of how H2A.X is targeted to specific genomic loci. To identify the unique property of DNA at H2A.X-nucleosome deposition sites, he developed a novel variation of ChIP-Seq, "SMRT-ChIP", which can simultaneously determine DNA modifications and genomic sequences of histone binding sites. This approach leverages native Chromatin Immunoprecipitation (N-ChIP) and the 3rd generation single-molecule real-time sequencing (SMRT) technology. By in depth analysis of H2A.X SMRT-ChIP data, he enjoyed a true "Eureka Moment". Tao discovered a novel mammalian DNA modification, DNA N6-methyladenine (N6-mdA). This is a form of DNA methylation that had not yet been detected in mammals [9, 10]. Tao also showed that ALKBH1 is major demethylase of N6-mdA, and the main function of N6-mdA is targeting and silencing evolutionarily younger LINE-1 retrotransposons in ESCs [9]. The Identification of novel DNA modifications in mammalian genomes is a "holy-grail" question in the epigenetics field. Despite the extensive search by leading labs for over forty years, only 5-methylcytosine (5mC) and its derivatives were known as functional DNA modifications in mammals before 2016. Hence, Tao's work opened a new chapter in mammalian epigenetics and stem cell biology [10]. Importantly, Tao was quickly appreciated the potential link between this DNA rare modification and malignant tumors. Thus, Tao initiated collaborations with leading cancer biology labs to show that while N6-mdA is rare in normal somatic cells, it is greatly enriched in high-grade glioblastoma patients' samples. He hypothesized that N6-mdA may be a mechanism by which cancer stem cells hijacks an early embryological mechanism for adapting to cancer niches and therapeutic resistance.

Elizabeth Varga, MS, LGC currently serves as Director of Customer Success at Genomenon Inc and is also a licensed genetic counselor. Liz has over 18 years of experience in the field of genetics and genomics, having worked in areas of prenatal, pediatric and cancer genetics. She ... spent 9 years of her career in the Division of Hematology/Oncology/BMT at Nationwide Children's Hospital, where she was Co-Director of Personalized Medicine and responsible for implementation of genetic/genomics strategy across the Division for both clinical services and genomic sequencing protocols. In February of 2020 Liz transitioned to industry, first as a genomic testing consultant at PerkinElmer Genomics, and later to Genomenon Inc. Genomenon is a genomics AI biotech company based in Ann Arbor, Michigan. As Director of Customer Success, Liz provides customer training, onboarding and support to customers of the Mastermind Genomic Search Engine, while contributing to the senior management team regarding customer strategy.

Dorottya earned her MD and PhD in clinical medicine from Semmelweis University of Medicine in Hungary. Holding postdoctoral fellowships at Baylor College of Medicine/Texas Children's Hospital and Columbia University, she has 10+ years of experience in translational medicine ... pediatrics, gastroenterology, microbiology, and clinical metagenomics. She led cutting-edge clinical trials on fecal microbiome transplantation and developed a multicenter research program to understand the role of the gut-brain axis in the integrative neuroscience field. Currently, Dorottya is the Chief Medical Officer at Biotia, a NYC-based startup focusing on rapid infectious disease diagnostics, surveillance, and prevention of hospital-acquired infections powered by artificial intelligence.

Louisa Ive, MSc HCPC, received her undergraduate education at University College London, London and completed her Clinical Scientist training at St George's University Hospital, London. She is a practicing Clinical Scientist, certified by the Health & Care Professions Council and ... currently working within the Clinical team at Congenica. Her clinical expertise within genetics is broad, however she has a subspecialty interest in pre-implantation and prenatal diagnosis. Her MSc thesis explored extended next generation sequencing testing in colorectal cancer patients. Louisa is a former Chair of the London Healthcare Science Trainee Network, and is a current member of the British Society of Genetic Medicine.

Degree: Ph.D. in Biochemistry, Institute of Bioorganic Chemistry, Polish Academy of Science, Poznań, Poland. Postdoc fellow in Human Genome Sequencing Center, Baylor College of Medicine... Interests: I'm interested in studying genomic variants and their effect, including the ... development of tools for comprehensive variant analysis (SNVs, SVs, and Methylation).