Jeremy Arbesfeld is a graduate student in Alex Wagner’s lab at the Institute for Genomic Medicine at Nationwide Children’s Hospital. His research interests include developing methods to improve the representation and clinical assessment of genomic variants.
Dr. Iain Bancarz is a Scientific Associate at the Ontario Institute for Cancer Research (OICR) in Toronto, Canada. He was born in Edmonton, Canada but lived for many years in England and Scotland. He completed a PhD in Informatics at Edinburgh University in 2005, and worked at the European Bioinformatics Institute, Illumina, and the Wellcome Trust Sanger Institute before moving to OICR in 2018. His interests include automated pipelines and reporting for genome and transcriptome analysis; quality control metrics for sequencing; and machine learning applied to cancer detection and classification. In his free time, he enjoys movies, cycling, canoeing, and camping.
Dr. Felix Beaudry is a Scientific Associate at the Ontario Institute for Cancer Research (OICR) in Toronto, Canada. Felix’s current work centers translation of cancer genomics research into clinically actionable assays. He completed his Ph.D. in Genomics and Evolutionary Biology at the University of Toronto in 2020. Dr. Beaudry next obtained an NSF Postdoctoral Research Fellowship to study quantitative genetics and genome complexity at the University of Rochester, NY. Felix’s work has been published in several peer-reviewed journals including MBE and Evolution.
“Dr. Beck received his MD/PhD at New York University School of Medicine where he studied biochemistry and cell fate decisions in the laboratory of Dr. Danny Reinberg. He performed further clinical training at Columbia University in Internal Medicine and the National Institutes of Health in clinical genetics. David performed his postdoctoral research with Dr. Dan Kastner at the National Human Genome Research Institute studying the genetics and mechanism underlying a subset of rheumatic diseases called autoinflammatory syndromes.
David’s work focused on discovering and characterizing new genetic diseases, including VEXAS syndrome which he will talk about today.
David joined the faculty at New York University School of Medicine last year to run a translational program studying autoinflammatory diseases, including VEXAS syndrome, both in the clinic and in the laboratory. His independent work focuses on trying to identify genetic causes of diseases in patients, and use laboratory investigation to help provide insights for clinical care.
He has won several awards including Burroughs Wellcome Fund Career Awards for Medical Scientists, K99/R00, and NIH Director’s award. “
Matthew earned an undergraduate degree in Biochemistry and a doctorate degree in Biomedical Sciences from The Ohio State University. He contributed to bioinformatics and experimental therapeutics-based research to screen FDA-approved drugs for new indications for acute myeloid leukemia (AML) and sickle cell disease (SCD). Matthew currently works within Dr. Alex Wagner’s lab as a postdoctoral scientist to continue his training. He currently leads research and development for improving therapy normalization techniques and for improving the Drug-Gene Interaction Database (DGIdb).
Yang Cao, PhD, FACMG is a laboratory geneticist serving as Associate Medical Director at the Cytogenetics & Molecular Pathology Laboratory, Assistant Professor in the Department of Pathology & Immunology, and Program Director of the Laboratory Genetics and Genomics Fellowship at Washington University School of Medicine in St. Louis. She holds a PhD in Genetics from the University of Wisconsin-Madison and completed ABMGG fellowships in Clinical Cytogenetics and Clinical Molecular Genetics at Mayo Clinic. With board certification in both Clinical Cytogenetics and Clinical Molecular Genetics from ABMGG, Dr. Cao is actively involved in professional organizations, including the Association for Molecular Pathology, CLSI Document Development Committee, Cancer Genomics Consortium, ClinGen Dosage Sensitivity Working group, American Society of Human Genetics, and American College of Medical Genetics. Her academic interests include clinical education in molecular and laboratory genetics and clinical research in genomic testing for constitutional diseases and somatic conditions.
I am currently a Bioinformatic Scientist with the Bolton Lab at the University of Washington in Saint Louis. I completed my Masters educational training in 2018 at the University of Guelph where I spent the next 5 years in industry working primarily in the development of several translational and transcriptional research pipelines for small RNA. My current research interests centers around the detection of low VAF somatic genomic mutations and understanding their impact as potential precursors towards the progression of myeloid neoplasms. I have been involved in several peer-reviewed journal publications such as JCO and Blood aiding in the analysis of clonal hematopoiesis.
My name is Pradeep Singh Chauhan. I did my Ph.D in cancer biology field from India and Post-doctoral training at University of Liege, Belgium. I am currently working as a Staff Scientist in Dr. Aadel Chaudhuri lab, Department of Radiation Oncology, Washington University School of Medicine. My research in Dr. Chaudhuri’s lab focuses on the application of liquid biopsy in the detection of minimal residual disease in genitourinary cancer. In bladder cancer, we developed a urine liquid biopsy assay that can measure tumor DNA in urine before surgery for muscle-invasive bladder cancer. We also developed a plasma based liquid biopsy assay that can predict resistance to androgen receptor-directed therapy in prostate cancer. The assay has the potential to identify risk and disease resistance and guide clinical decision making for metastatic prostate cancer patients.
Catherine Cottrell, PhD, FACMG, serves as the Senior Director of the Institute for Genomic Medicine Clinical Laboratory at Nationwide Children’s Hospital. She is an Associate Professor – Clinical in the Departments of Pathology and Pediatrics at The Ohio State University College of Medicine. Dr. Cottrell is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Cytogenetics and Molecular Genetics having completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio in 2010. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, she ultimately served as the Director of the Cytogenetics and Molecular Pathology Laboratory, and as an Associate Professor in the Department of Pathology and Immunology, and Department of Genetics. Dr. Cottrell specializes in the clinical interpretation of high-complexity genomic laboratory tests including next-generation sequencing, Sanger sequencing, chromosome analysis, FISH analysis, and chromosomal microarrays. She has an interest in the development of new clinical diagnostic assays, and a focus on somatic variant interpretation and mosaicism in the setting of congenital disease. Her current clinical and research emphasis includes genome sequencing, tumor somatic profiling, and the development of best practices in genetic variant interpretation.
Dr. Danos is a staff scientist in the Griffith Lab at the McDonnell Genome Institute at Washington University School of Medicine. He received undergraduate degrees in mathematics and physics at the University of Chicago. He performed graduate studies in the fields of Diabetes and Cancer Metabolism and received his PhD from the Committee on Molecular Metabolism and Nutrition and the University of Chicago. In the Griffith Lab at Washington University in Saint Louis, he works on the CIViC (Clinical Interpretation of Variants in Cancer) knowledgebase as an editor, and is involved with development of the CIViC data model for representing the clinical significance of cancer variants, as well as collaboration with ClinGen Somatic expert panel curation efforts as well as training in the CIViC user interface and data model. Additional research projects include analysis of variants in noncoding regions of the genome which appear in cancer, and analysis of functional genomics datasets.
Dr. Avinash V. Dharmadhikari is board certified in Laboratory Genetics and Genomics (LGG) by the American Board of Medical Genetics and Genomics (ABMGG) and serves as an Assistant Director in the Center for Personalized Medicine at Children’s Hospital Los Angeles and Assistant Professor of Clinical Pathology at the Keck School of Medicine of USC. He has expertise with interpreting complex molecular and cytogenomic data for patient care and is a member of the ClinGen Intellectual disability/ Autism Spectrum Disorder gene curation expert panel, the Cancer Genomics Consortium (CGC) Early Career Committee and serves on the editorial board of the Journal of Molecular Diagnostics (JMD). His major areas of research interests include the identification of clinically relevant structural and molecular variants causative of genetically heterogeneous neurodevelopmental disorders, and the utility of next generation sequencing technologies in detection of the genetic causes of vascular anomalies and mosaic disorders.
Dr. Raksi completed her Master’s and Ph.D. in bioinformatics at UCLA, where she mined multi-terabyte exome and whole-genome NGS datasets to find the cause of complex genetic disorders such as bipolar disorder, tic-related OCD and autism, and worked towards improving methods for variant interpretation and gene prioritization.
Dr. Raksi lives in San Diego, California and is mother to two children; her hobbies include backpacking, sustainability, and gardening.
“Dr. John F. DiPersio, Professor of Medicine and Pathology & Immunology, Director, Center for Gene and Cellular Immunotherapy at Washington University School of Medicine in St. Louis and the Virginia E. and Samuel J. Golman Professor of Medicine.
His research focuses on mechanistic and translational aspects of leukemia and stem cell biology. He has played a key role in the clinical development of plerixafor as a mobilizing agent for stem cell transplantation.
His recent studies have focused on the development of novel methods of targeting the hematopoietic niche through the development of highly active small molecule inhibitors of CXCR4 and VLA-4, and agonists of CXCR2, for both stem cell mobilization and chemosensitization. He was the first to implicate the role of JAK1/2 signaling in GvHD pathogenesis which led to FDA approval of Ruxolitinib for the treatment of steroid refractory acute GvHD. His recent studies have uncovered the mechanisms by which JAK inhibitors alter T cell biology, and have led to the identification of ‘best-in-class” JAK inhibitors for the prevention and treatment of GvHD in humans.
DiPersio has played a key leadership role in the team-science work at Washington University that has defined the genetic and epigenetic factors that contribute to clonal evolution and relapse in AML. His group was the first to use whole genome sequencing to define clonal evolution at relapse resulting from the expansion of very small genetically defined AML subclones. Recently, this group showed that epigenetic downregulation of HLA Class II antigens on AML blasts is associated with immune escape, often leading to relapse after allogeneic transplantation. Together, these studies have changed our understanding of AML relapse after chemotherapy and/or transplantation.
His group has recently developed a novel conditioning regimen for successfully engrafting donor cells across major allogeneic barriers, using chemotherapy- and radiation-free conditioning regimens which may significantly influence how patients are prepared for gene therapy for inherited diseases, such as sickle cell anemia. Finally, his lab has developed the first off-the-shelf, fratricide-resistant CAR-T cells for the treatment of patients with relapsed CD7+ T-ALL and have found ways to enhance the expansion, persistence and anti-tumor efficacy of CAR-T cells for multiple cancers using analogues of IL-7 and IL-15.
DiPersio is an internationally recognized leader in hematopoietic stem cell transplantation and acute leukemia. He has served in leadership roles for the American Society of Hematology (ASH), multiple NIH, CIRM, LLS, and CPRIT Study Sections, and has served on NCI’s Board of Scientific Counselors. He is an elected member of ASCI and AAP, and past president of the American Society of Transplantation and Cellular Therapy (2019). He has received the AACR Joseph H. Burchenal Memorial Award for Outstanding Achievement in Clinical Cancer Research in 2014, the ASH Mentor Award for Clinical Investigation in 2014, the 2022 American Italian Cancer Foundation Prize for Scientific Excellence in Medicine, 2022 American College of Physicians Harriet P. Dustan Award for Science as Related to Medicine and an NCI R35 Outstanding Investigator Award in 2017. His work has resulted in more than 450 publications, more than 20 patents, and the co-founding of two companies (Magenta Therapeutics, Cambridge MA and WUGEN, St Louis MO).
Dr. DiPersio was the Chief of the Division of Oncology and Deputy Director of the NCI-CCC Siteman Cancer Center at Washington University School of Medicine from 1994-2022.”
Amanda is the Laboratory Director of IGENZ the only private diagnostic genetics laboratory in New Zealand. In 2019 she was awarded a Service Excellence Award by the Human Genetics society of Australasia (HGSA) for outstanding service to the HGSA as well as for the significant contribution that she has made in the field of human genetics. Amanda was elected as the first Chair of the Australasian Society for Diagnostic Genomics (2016-2018) following on from her previous roles as Treasurer of both the Australasian Society of Cytogeneticists and the Association for Clinical Cytogenetics (UK). Amanda is involved in the training of University undergraduate students and is an invited member of the Editorial Board of the Translational Paediatrics journal. She is also involved in the examination writing for the current Diagnostic Genomics examinations as well as a recently appointed Examiner Content Writer for the Medical Sciences Council of New Zealand. Her speciality is Haematological Malignancy and Ocular melanoma but is also interested in novel molecular testing. This interest in molecular testing saw the implementation of PCR-based saliva testing for SARS-CoV-2 in New Zealand.
Kelly is a Ph.D. candidate in the Laboratory of Molecular Biology in Uro-Oncology at the University of São Paulo, Brazil. She graduated from the Federal University of Pará in 2017 in Biological Sciences. Before her Ph.D., Kelly completed a master’s degree in science from the University of São Paulo directed towards the standardization of cancer genetic panels, and she is a bioinformatics specialist applied to medical genomics from Hospital Israelita Albert Einstein. Kelly is interested in utilizing next-generation sequencing and bioinformatic analysis to understand the genomic landscape of urological cancer. Her current research involves bioinformatics analysis to explore data from computational genomics targeted for penile cancer.
Adrian M. Dubuc, PhD, FACMG
Assistant Laboratory Geneticist and Assistant Professor in Pathology
Brigham and Women’s Hospital and Harvard Medical School
Stephen Eacker, Ph.D. trained at the University of Washington Department of Genome Sciences and the Johns Hopkins University Institute for Cell Engineering where he focused on the development and application of genomic tools for the analysis of complex biological systems. Following his training, Dr. Eacker served as tenure-track faculty in the Department of Neurology at the Johns Hopkins University before joining Phase Genomics in 2018. He now serves at the Vice President for Research and Development, leading cross-disciplinary efforts to develop and deploy research and clinical applications of proximity ligation sequencing.
I’m a Laboratory Genetics and Genomics Fellow at University of Washington.
Dr. Min Fang is a Professor at the Fred Hutchinson Cancer Center and the University of Washington. She is the senior director of the Clinical Cancer Genomics Laboratory at Fred Hutch. Dr. Fang has been an active member of CGC and served as the CGC President in 2018-2019.
Sharon Freshour is a PhD candidate in the Human and Statistical Genetics program at Washington University School of Medicine in St. Louis. She graduated from St. Edward’s University in 2016 with a B.S. in Mathematics. She is interested in utilizing next generation sequencing and bioinformatic analysis to understand the genomic landscape of cancer and how it relates to treatment response. Her current research topics include using whole genome sequencing to explore copy number alterations in childhood brain tumors and using single cell RNA sequencing to understand mechanisms of response to checkpoint inhibitor treatment in a mouse model of bladder cancer.
“Dr. Guillermo Garcia-Manero is the Dr. Kenneth B. McCredie Chair in Clinical Leukemia Research in the Department of Leukemia at the University of Texas MD Anderson Cancer Center. He also serves as the Chief of the Section of Myelodysplastic Syndromes and Vice Chairman of the Department of Leukemia at UT MD Anderson Cancer Center. He also serves as Leader of the MDS/AML Moon Shot Program and Program Director of the Leukemia Fellowship Program at MD Anderson Cancer Center.
Dr. Garcia-Manero was born in Spain and received his medical degree and training at the University of Zaragoza in Spain and at the Royal Free Hospital in London, UK. From 1993- 1996, he performed his internship and residency in Internal Medicine at Thomas Jefferson University Hospital in Philadelphia, PA. He then continued his training with a fellowship in Hematology and Medical Oncology at the Cardeza Foundation for Hematology Research, Sidney Kimmel Cancer Center, also at Thomas Jefferson University Hospital, where he served as Chief Fellow. In 1999, he became Assistant Professor in the Department of Leukemia at the University of Texas MD Anderson Cancer Center where he has remained for the rest of his academic career.
Dr. Garcia-Manero’s research focuses on understanding the cellular and molecular biology of MDS and AML with an aim to improve therapeutic options for patients with these disorders. His work has been funded by NIH, DoD, LLS, CPRIT, EP Evans Foundation, and the MDS/AML Moon Shot. He has co- authored over 800 manuscripts. His H-index is 135 and his i10-Index is 853 with over 81,000 citations to his work. Currently, he is PI or Co-PI on over 30 active clinical trials focusing on AML and MDS. He directs what is likely the largest single institution unit for patients with MDS in the world, with over 400 patients referred annually, and maintains one of the busiest clinics at MD Anderson. The Section of MDS is comprised of leukemia faculty dedicated to care for patients with MDS and two research laboratories directed by Dr. Colla and Dr. Wei. In addition, the Section coordinates the work of over 15 research nurses. Dr. Garcia-Manero has received a number of significant awards, such as The Otis W. and Pearl L. Walters Faculty Achievement Award in Clinical Research and the Emil J. Freireich Award for Excellence in Translational Research at MD Anderson. He has also been recognized as one of the Best Doctors in America each year since 2007. He has trained over 100 fellows and post-doctoral fellows and has been a speaker at multiple national and international forums.”
Dr. Gastier-Foster is a board-certified molecular and cytogeneticist with expertise in pediatric cancer. She received her PhD at Harvard Medical School then completed a Clinical Laboratory Genetics fellowship at Stanford School of Medicine. Prior to switching to a global pathology focus, she directed the clinical genomics laboratory at Nationwide Children’s Hospital and the centralized reference laboratories for the Children’s Oncology Group clinical trials for 20 years. She is a Professor in the Departments of Pediatrics and Pathology/Immunology at Baylor College of Medicine and a Professor Emeritus at the Ohio State University College of Medicine. She is a credentialed member of the medical staff at Texas Children’s Hospital as a faculty member in the Department of Pathology, Division of Genomic Medicine. Her primary role is to build laboratory and pathology infrastructure to support pediatric cancer treatment in Sub-Saharan Africa through the Global HOPE Program at Texas Children’s Hospital.
Dr. Griffith is an Associate Professor of Medicine and Genetics and Assistant Director of the McDonnell Genome Institute at Washington University in St. Louis. Dr. Griffith’s research focuses on developing personalized medicine strategies for cancer, and his team develops bioinformatics tools and methods for analyzing high throughput sequence data and identifying biomarkers. Dr. Griffith is the current President of the Cancer Genomics Consortium, on the Steering Committee for the Global Alliance for Genomic Health, and co-chair of the Variant Interpretation for Cancer Consortium.
I am a Senior Bioinformatics Scientist at Nationwide Children’s Hospital with over 8 years’ experience in the field of computational genetics and bioinformatics. During my PhD I studied ciliopathies and rare eye disease using Next-Generation sequencing, bioinformatics, and machine learning. I helped develop both the clinical and research sequencing pipelines used by the Institute for Vision Research. Using these pipelines, I analyzed over 750 exomes of patients with rare eye diseases using a wide variety of the latest genomic tools to identify the cause of patients’ disease. I also analyzed multiple RNA sequencing projects in both human cells and mouse models. These different projects taken together allowed me to develop a wide array of technical skills that include coding in multiple different languages, system administration and server building, machine-learning, and an incredibly strong knowledge of different Next-Generation sequencing tools and protocols. After my PhD I spent three years at a clinical oncology report company building their sequencing pipelines and the infrastructure needed to store all the data necessary to produce the best clinical report possible. I am intimately familiar with the ACMG and AMP guidelines along with all the databases and tools used within those guidelines. I have a deep understanding of the challenges that researchers and clinicians face when using many different databases with different standards of formatting and annotation in their workflows. I work with our clinical team and collaborators to develop tools and resources to harmonize data and perform variant classification within a clinical framework to provide clinicians with the best data possible to treat patients.
Dr. Robert Hasserjian is Professor of Pathology at Harvard Medical School and a Hematopathologist at Massachusetts General Hospital. Dr Hasserjian received his MD from Harvard and trained in Anatomic Pathology and Hematopathology at Brigham and Women’s Hospital. His research interests are in the discovery of pathologic and genetic features that impact the biology of myeloid and lymphoid neoplasms, particularly myelodysplastic syndromes and acute myeloid leukemia.
Dr. Hasserjian is an author of over 250 peer-reviewed publications, reviews, and chapters. He the current President of the Society for Hematopathology. He is one of the pathology leaders of the 2022 International Consensus Classification of Myeloid Neoplasms, has served as a Senior Reviewer in the revised 4th edition WHO Classification of Myeloid Neoplasms, and was an expert panel member for the 2022 European LeukemiaNet AML Guidelines. Dr Hasserjian is strongly committed to advancing diagnosis and education in hematopathology and has lectured on the diagnosis of leukemias and other bone marrow disorders at numerous courses and international meetings across the Americas, Europe, and Asia.
Dr. Alex Hastie is the Vice President of Clinical and Scientific Affairs at Bionano and has spent over a decade of his career focusing on the development, implementation, and various clinical and translational research applications of optical genome mapping (OGM). Dr Hastie is an active contributor to the Human Genome Structural Variation Consortium (HGSV) and other genome consortia (T2T, NIST, Human Pangenome Project, etc.). Dr Hastie has authored over 55 publications including multiple benchmarking studies and applications of OGM to disease. Prior to Bionano Dr Hastie worked as a post doctoral fellow at Max Planck Institute. Dr Hastie worked on protein-protein interactions during his doctoral thesis work conducted at Roswell Park Cancer Institute. Dr Hastie is a member of multiple professional societies such as AACR, ACMG, AMP, ASHG, and CGC and has collaborated with scientists around the world that have resulted in dozens of publications on optical genome mapping in clinical and translational research.
Dr. Hastings is a state registered clinical scientist and a Fellow of the Royal College of Pathologists. She has more than 35 years’ experience in constitutional (including prenatal), acquired and molecular cytogenomics, both in a research and diagnostic setting.
Initially, Dr Hastings worked on research projects into cancer and immunological disorders at the Imperial Cancer Research Fund, London; the MRC Cytogenetics Unit, Edinburgh and the Cancer Research Campaign Laboratory, Manchester. She has also worked in four diagnostic Cytogenetics Laboratories within the UK. For past 20 years was the Director of an ISO accredited proficiency testing (PT) provider for cytogenomics and more latterly, genomics (CEQAS and GenQA). Dr Hastings now works part time, as a Cytogenomics Consultant for GenQA, an ISO accredited PT provider operated by Oxford University Hospitals NHS Foundation Trust, Oxford. Dr Hastings is the Chair of the ISCN Standards Committee which is, with the help of the optical genomics mapping community, developing the genomic mapping ISCN that will be included in the next version of ISCN.
Dr Hastings has authored many publications and book chapters on genetics, NIPT, PGD, ISCN and PT. In addition, she is an author on many best practice guidelines.
Axel Hauduc is a Ph.D. candidate in the Hirst Lab at the University of British Columbia, Canada. Axel grew up in the Seattle area and attended the University of California, Berkeley for his bachelor’s degree in Molecular & Cell Biology (Neurobiology emphasis) and French. While at Cal, Axel was a research intern at the Gladstone Institutes at the University of California, San Francisco, and the Allen Institute for Brain Science in Seattle, working mainly in neurobiology and mouse models of Alzheimer’s disease. After graduation, Axel was drawn to genomics for its potential to transform the huge influxes of genetic data generated each day into deeper understanding of biology and potential therapies. Axel enrolled in the Genome Science and Technology program at UBC’s Michael Smith Laboratories in September 2019 and joined the Hirst Lab in January 2020. At the Hirst Lab, Axel’s research focuses on interpreting cell-type-specific epigenetic datasets and characterizing the interactions between various epigenetic marks and genetic variants in human breast tissue.
Dr. Hong is an associate professor of clinical pathology at the University of Utah School of Medicine and is a medical director in the Cytogenetics and Genomic Microarray section at ARUP Laboratories. She received her MD from Peking University Health Science Center in China and completed a residency in internal medicine and hematology at People’s Hospital, Peking University, and a clinical cytogenetics fellowship at the University of Utah. She is board certified in Clinical Cytogenetics, and Laboratory Genetics and Genomics by the American Board of Medical Genetics and Genomics, and is a fellow of the American College of Medical Genetics and Genomics. Her academic interests include comprehensive cytogenetic and genomic characterization of hematologic malignancies, particularly childhood leukemia.
Dr. Jane Houldsworth, PhD has had a long standing interest in identifying genomic alterations in human cancer specimens, to understand their role in development of the cancer, establish biological and clinical relevance and further develop for use as biomarkers in clinical diagnostics for the routine care of cancer patients. After fellowship at Caltech, Dr. Houldsworth pursued research at MSKCC for 20 years reaching Associate Attending Geneticist and Associate Laboratory Member. Dr. Houldsworth then joined a small diagnostics company where she lead the scientific R&D efforts to bring novel genomic findings to the clinic for both solid and hematologic neoplasms across a variety of molecular technologies, some with NIH-funded SBIR grants. This experience together with lead involvement in the growth of pharma business of integrative pathology services at the company, Dr. Houldsworth re-entered academia at the ISMMS in the Pathology, Molecular and Cell Based Medicine Department, where she directs the Molecular Pathology Clinical Laboratory, integrates testing across clinical laboratory disciplines within the Molecular Pathology Division as Vice-Chair, and works directly with clinicians and interventionalists to improve testing capabilities. Other academic activities include Assistant Director of the Molecular Genetics Pathology Fellowship Program and reviewer and chairman on NIH study sections.
“Dr. Sachin Jadhav
Hematology and BMT
HCG Group of Hospitals
Kay Jayachandran is a graduate student at Washington University in Saint Louis’s Division of Biology and Biomedical Sciences. She is currently working in Dr. Jin Zhang’s Translational Genomics lab. Her research focuses on HPV genomics in cervical cancer, where she uses bioinformatics methods to discover HPV integration events in the human genome, and uncover variations in HPV genomic structures that can be used as prognostic biomarkers to assess patient prognosis and therapeutic efficiency in cervical cancer. Kay previously obtained her BS in Physics at the University of Washington and is currently working towards her PhD in the Biomedical Informatics and Data Science program.
Dr. Jianling (Jenny) Ji is an Assistant Professor of Clinical Pathology, Keck School of Medicine of the University of Southern California, and assistant director of the Clinical Genomics Laboratory in the Center for Personalized Medicine in the Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles. Dr. Ji received her M.D. and M.S. degrees at Nantong Medical College of Nantong University and completed her fellowship training in Clinical Molecular Genetics and Clinical Cytogenetics at the University of California Los Angeles (UCLA) and Cedars Sinai Medical Center. She holds American Board of Medical Genetics and Genomics certifications in both Clinical Molecular Genetics and Clinical Cytogenetics. She is a member of ACMGG, ASHG, AMP and CGC. Dr. Ji’s primary interest is in the clinical application of cutting-edge next-generation sequencing technologies for the molecular diagnosis of rare genetic disorders, pediatric cancer predisposition, and pediatric brain tumors.
Mariam is a graduate student in the Human and Statistical Genetics program at Washington University in St. Louis. She completed her BSc in Medical Laboratory Sciences (2016) and MSc in Diagnostic Molecular Biology and Human Genetics (2019) in Jordan. Mariam joined the Griffith lab for her PhD as she is interested in the development of personalized medicine strategies using genomics and informatics technologies.
Kilannin Krysiak is an Assistant Professor at Washington University School of Medicine and Associate Medical Director of the Cytogenomics and Molecular Pathology Laboratory. She received her PhD and completed her Laboratory Genetics and Genomics Fellowship at Washington University in St. Louis. During her postdoctoral work with Drs. Malachi Griffith and Obi Griffith, she was part of the original team that created the CIViC (Clinical Interpretation of Variants in Cancer; www.civicdb.org) knowledgebase and continues to be a lead curator and feature development consultant of that resource. As member of the ClinGen Somatic Somatic Working Group, she continues her international involvement in guideline development in the field of cancer molecular genetics.
“Dr. Joseph Khoury is the Stokes-Shackleford Professor and Chair, Department of Pathology and Microbiology, University of Nebraska Medical Center. He is recognized internationally as a leader in the field of hematopathology, in which he combines longstanding expertise in clinical diagnostics, teaching, and translational research.
Dr. Khoury has authored over 300 publications, in addition to textbooks and numerous book chapters. He has received multiple awards for teaching, mentorship, research, and clinical achievements. Dr. Khoury is the Chair of the Standing Editorial Board of the WHO Classification of Tumours and has contributed significantly to the 5th edition of the classification of hematolymphoid neoplasms. “
Runjun is a clinical geneticist and pediatrician, now completing his fellowship in molecular genetic pathology at Baylor College of Medicine and Texas Children’s Hospital in Houston. He completed his MD and PhD at Washington University in St. Louis and is pleased to visit! His research interests include development of bioinformatic methods for somatic and germline variant interpretation, optimizing genetic test utilization, and developing pre- and post-analytic supports for community health care workers. His work is featured in journals including Nature Genetics, Bioinformatics, Cancer Genetics, the American Journal of Medical Genetics, and others. After his clinical training, he plans to stay in academic medicine and continue to develop his research and clinical practice.
Kori Kuzma is a Bioinformatics Software Developer in the Institute for Genomic Medicine at Nationwide Children’s Hospital. She obtained her BS in Computer Science and Engineering from The Ohio State University. Kori develops and deploys web applications for the analysis and interpretation of genomic variants.
Dr. Zejuan Li is a clinical molecular geneticist certified by the American Board of Medical Genetics and Genomics. Dr. Li currently is an Associate Professor of Pathology and Genomic Medicine at the Houston Methodist and Weill Cornell Medical College, and an Associate Medical Director of the Molecular Diagnostic Laboratory at the Houston Methodist Hospital. Before joining Houston Methodist in 2018, Dr. Li was an Assistant Professor of Human Genetics and an Assistant Director of Molecular Diagnostic Laboratory at the University of Chicago. Dr. Li’s clinical interest is in developing and implementing cutting-edge technologies in cancer. Dr. Li’s research interest is in identifying novel genetic and epigenetic biomarkers for diagnosis, prognosis, and therapeutic response in cancer. Her research has been published in high-impact journals, including Cancer Cell, Journal of Clinical Oncology, Nature Communications, Blood, Leukemia, Proceedings of the National Academy of Science, Genome Research, and Cancer Research. Dr. Li has received awards and funding from the American Cancer Society, Gabrielle’s Angel Foundation for Cancer Research, and the Leukemia & Lymphoma Society. Dr. Li’s overarching goal is to cultivate a deep understanding of cancer genetics and epigenetics, discover biomarkers that can improve clinical management of cancer, and translate research findings into clinical applications that significantly advance patient care.
Dr. Dilani Samarawickrema Lokuhetty (MD Path), is the Head of the WHO Classification of Tumours (WCT) group at the WHO International Agency for Research on Cancer in Lyon, France. She is a Senior Pathologist (Anatomical and Cytopathology) with a strong academic background, and a researcher with a passion and dedication to further tumour diagnosis and evidence-based tumour classification. As the Head of WCT, she will be providing leadership to the upcoming 6th series WHO classification of tumours.
Mariam Mathew is a clinical laboratory director at the Nationwide Children’s Hospital, and Assistant Professor (clinical) at the Ohio State University. Her laboratory expertise includes the clinical validation and utilization of molecular, NGS and cytogenomics assays to aid in the assessment of disease diagnostics, risk stratification and patient management. She has broad interests in translational research in the oncology and somatic disease setting and serves on committees including the Cancer Genomics Consortium and the Clinical and Laboratory Standards Institute. She received her PhD at the University of Toronto, and the ABMGG Laboratory Genetics and Genomics fellowship at the University of Chicago.
Dr. Mikhail graduated from the Faculty of Medicine, University of Alexandria, Egypt in 1990. He completed his Clinical Pathology residency at the Department of Clinical Pathology in the same University. He received an Egyptian government scholarship to conduct this PhD thesis research work in the US where he worked as a visiting scholar in the Pathology Department, School of Medicine, University of Illinois at Chicago. He earned his PhD from the Faculty of Medicine, University of Alexandria in 2003. Dr. Mikhail did his Clinical Cytogenetics fellowship at the Department of Genetics, School of Medicine, University of Alabama at Birmingham (UAB), and was certified by the ABMGG in 2007. He joined the faculty in the Department of Genetics, UAB School of Medicine as an Assistant Professor in 2006, and was promoted to an Associate Professor in 2012 and to a full Professor in 2017. Dr. Mikhail served on the ACMG Laboratory Quality Assurance Committee from 2011 to 2021 and served as the chair of this committee from 2019 to 2021. He is currently serving on the Cancer Genomics Consortium (CGC) Board of Directors and the Children’s Oncology Group (COG) Cytogenetics Committee. His research interests include identification of novel cytogenomic rearrangements in patients with various hematologic malignancies that might have a causal role in the oncogenic process and identification of the underlying genes. Dr. Mikhail’s research interests also include identification of novel constitutional genomic disorders caused by microdeletions and microduplications, and characterization of the clinical phenotype, molecular breakpoints, and mechanism of rearrangement.
Katherine (Katie) Miller
Katie Miller, PhD is an Assistant professor in the Department of Pediatrics at The Ohio State University and a Principal Investigator in the IGM in the Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital (NCH). Dr. Miller has a strong background in next-generation sequencing (NGS) technologies with a deep understanding of the latest and evolving techniques and tools used for analyzing genetic material. She plays an active role in technology development in IGM and has helped implement research-based assays for optical genome mapping, spatial transcriptomics, cell-free DNA profiling, and single cell RNA-sequencing. In addition, Dr. Miller leads a research laboratory that studies central nervous system tumors: with a focus on the tumor immune microenvironment and response to oncolytic virotherapy.
“Huan Mo is a Research Physician at the Center for Precision Health Research and the inaugural director for the intramural Cohort Analytics Core (CAC). His research interests include applying electronic health records (EHR) and genomic data from large biobanks such as the All of Us Research Program to identify novel complex phenotype-genotype associations, and to test phenotypic consequences of genetic variants in unselected populations with a genotype-first strategy. In establishing the CAC, he laid the groundwork to streamline these research tools to serve the NHGRI intramural community.
Huan Mo is also a board-certified anatomic, clinical, and hematopathologist, with clinical expertise in the application of flow cytometry, as well as cyto- and molecular genetics, for leukemia and lymphoma classification and measurable disease detections.”
Thais Bianchi Moyen is in her final year of medical school at Albert Einstein Israelita College of Health Sciences. She has been a member of the Albert Einstein Israelita Research Institute’s Scientific Initiation Program since 2019, received a research scholarship from the Hospital Israelita Albert Einstein Institution, and is working on two projects in the field of Hematology. The first involves the evaluation of an App for automated comprehensive diagnosis in AML, while the second involves prospective follow-up and outcome evaluation of individuals with Clonal Hematopoiesis of Indeterminate Potential (CHIP). Thais also worked as a monitor in the Cells and Genes discipline and co-authored a paper in the field of medical education.
My name is Ha Nguyen. I was born and raised in the Mekong Delta in southern Vietnam. I obtained both my Bachelor of Science in Cytogenetic Technology and Master of Science in Diagnostics and Genetics at The University of Texas MD Anderson Cancer Center (UTMDACC). At UTMDACC, I was the recipient of the prestigious fellowship award and Peter and Cynthia Hu/ Cardinal Health Scholarship. I am currently a cytogenetic technologist at Northwestern Medicine. My long-term goal is to build my career in cytogenetics and later as laboratory instructor so that I can specialize in this field and teach knowledge to future generations. From the graduate program based on applied research, I have learned that knowledge is constantly evolving in health professions, so we always have to invest in studies and clinical trials to discover new methods of disease diagnosis and treatment. In my senior year, I worked on my thesis at MD Anderson Molecular Diagnostic Laboratory with the mentorship by Dr. Kanagal-Shamanna. My study is that novel high-throughput technologies can complement traditional cytogenetics testing to improve the diagnosis and prognosis of patients with hematological malignancies. I hope that my work will make important contribution to improving health care for cancer patients.
“Walter L. Palmer Distinguished Service Professor of Medicine and Human Genetics and founding director of the Center for Clinical Cancer Genetics and Global Health at the University of Chicago Medicine, Dr. Olopade’s research is focused on gaining a better understanding of the root causes and genomic basis of cancer in diverse populations. She has published extensively on genetic and non-genetic risk factors for breast cancer and is internationally renowned for her work in inherited cancer syndromes and clinical expertise in early detection and prevention of breast cancer in high risk women.
Olopade mapped genes frequently altered in cancer and has characterized the molecular pathways defining aggressive forms of breast cancer in women of African ancestry.
A distinguished scholar and mentor, Olopade has been elected to the most prestigious academies and societies including the National Academy of Science, National Academy of Medicine, the American Academy of Arts and Sciences and the American Philosophical Society to mention a few. Olopade served for six years as a member of the National Cancer Advisory Board and Chair of the Sub-Committee on Global Cancer Research under the Obama Administration. Olopade has received numerous honors and awards including honorary degrees from several universities, including the 2021 William L. McGuire Memorial Lecture Award, Franklin Roosevelt Freedom from Want Medal, The Order of Lincoln, Officer of the Order of the Niger, and a 2005 MacArthur Fellowship for “translating findings on the molecular genetics of breast cancer in African and African-American women into innovative clinical practices in the United States and abroad.”
Dr. Olopade earned her medical degree from the University of Ibadan College of Medicine in Nigeria. She trained in Internal Medicine at Cook County Hospital in Chicago and in combined Hematology/Oncology and Cancer Genetics at the Joint Section of Hematology and Oncology at the University of Chicago. An advocate for social justice, she serves as director on several Civic and Corporate Boards in Chicago.”
Dr. Xiaoyu Qu received her Ph.D. degree in Biology from Texas A&M University. She completed post-doctoral research at Fred Hutchinson Cancer Center and American Board of Medical Genetics and Genomics (ABMGG) training through the University of Washington. Dr. Qu is certified in Clinical Cytogenetics and Laboratory Genetics and Genomics and currently serves as co-director of the Clinical Cancer Genomics Laboratory at Fred Hutch. Dr. Qu is passionate about advancing patient care through innovative technologies and supporting healthcare professionals through intelligent systems. For the latter, she is also pursuing a business degree at the University of Washington Foster School of Business. In her free time, Dr. Qu enjoys exploring the outdoors and experimenting with fun recipes in the kitchen.
Dr. Raca is the Director of the Cytogenomics Section of the Center for Personalized Medicine, in the Department of Pathology and Laboratory Medicine at Children’s Hospital Los Angeles, and Professor of Clinical Pathology at the Keck School of Medicine at USC. Dr. Raca’s research and clinical interests are focused on genetic and genomic abnormalities in hematologic malignancies, and on the use of cytogenomic and molecular techniques (including Chromosomal Microarrays, Next Generation Sequencing and Optical Genome Mapping) for detection of copy number changes and balanced rearrangements in genomic DNA.
Dr. Raca is the Past-President of the Cancer Genomics Consortium and currently serves on the Children’s Oncology Group Cytogenetics Steering Committee, American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee and ClinGen Somatic Working Group.
Aliz Raksi, Ph.D., is senior bioinformatics scientist at Bionano Genomics, where she develops algorithms and software to analyze optical genome mapping (OGM) data, including calling structural variants, copy number variation, and loss of heterozygosity. Her research interests include variant interpretation, DNA sequencing technologies, and extracting actionable data from a wide range of biological data, and she is excited to be on the leading edge of next-generation cytogenetics. Prior to working at Bionano, she was bioinformatics scientist at Tocagen, Inc., a biopharmaceutical company developing cancer-selective gene therapy for the treatment of glioblastoma. Here, Dr. Raksi developed next-generation sequencing (NGS) workflows to identify driver mutations, copy number variants and neoantigens in clinical samples, to identify biomarkers for drug response.
Dr. Raksi completed her Master’s and Ph.D. in bioinformatics at UCLA, where she mined multi-terabyte exome and whole-genome NGS datasets to find the cause of complex genetic disorders such as bipolar disorder, tic-related OCD and autism, and worked towards improving methods for variant interpretation and gene prioritization.
Dr. Raksi lives in San Diego, California and is mother to two children; her hobbies include backpacking, sustainability, and gardening.
Dr. Deborah I. Ritter is an Instructor at Baylor College of Medicine, and in the Department of Pediatrics at Texas Children’s Hospital. She specializes in cancer biocuration (hereditary and somatic), cancer variant interpretation, and has a background in bioinformatics and DNA sequence analysis. She received her Ph.D. at Boston College where she identified noncoding developmental regulatory sequences in zebrafish. She completed an IRACDA fellowship at Baylor College of Medicine’s Human Genome Sequencing Center, focusing on whole genome structural variation in cancers, building exome variant and structural variant analysis pipelines, and performing analysis and interpretation on paired tumor/normal genomes from hereditary childhood and adult sporadic cancers. As a member of the steering committee and a Program Manager for The Clinical Genome Resource (ClinGen), Dr. Ritter is involved in multiple working groups and educational efforts spanning curation, coordination and outreach/training on variant curation.
Molecular geneticist at the molecular diagnostics lab at CHU sainte-justine pediatric hospital, Montreal, Canada. I have developed an expertise in cancer genomics, variant classification and bioinformatics.
Dr. Sahajpal is a Laboratory Genetics and Genomics (LGG) fellow at the Greenwood Genetic Center. Before joining GGC, Dr. Sahajpal worked as a post-doctoral fellow at Augusta University, GA, US, where he was involved in investigating molecular and cytogenetic methodologies for prenatal, postnatal, hematological malignancies and solid tumor applications. As the world struggled with the COVID-19 pandemic, Dr. Sahajpal played a key role in establishing COVID-19 FDA-EUA approved diagnostic testing and research at Augusta University and is a key contributor of the COVID-19 host genome SV consortium.
Dr Trilochan Sahoo is a board-certified cytogeneticist and currently Clinical Laboratory Director at Bionano Labotarories, San Diego, CA. Following ABMGG fellowship training, he served as a Laboratory Director at Baylor College of Medicine, Signature Genomics, Quest Diagnostics, Combimatrix and most recently at Invitae. His work in cytogenomics included implementation of chromosomal microarrays in clinical genetics and discovery of a number of syndromic and non syndromic genomic disorders. His interests include technology development, validation and implementaion in the areas of prenatal, postnatal, reporductive genetics and more recently, utilizing Optical Genome Mapping as a diagnostic tool in constitutional cytogenomics and hematologic cancers.
Dr. Jason Saliba is a Senior Scientist in the Griffith laboratory at the Washington University School of Medicine with over 10 years of experience in cancer research. Dr. Saliba’s research is focused on the development and improvement of protocols, classification guidelines, and training methods related to the curation and interpretation of clinically significant information advancing precision medicine in cancer. He was the first full-time editor of the Clinical Interpretation of Variants in Cancer (CIViC) knowledgebase, which is an open access, open source, community-driven web resource for the curation of somatic variant evidence. Dr. Saliba founded and chairs the Pediatric Cancer Curation Advancement Subcommittee (PCCAS), which is a collaboration between CIViC, the ClinGen Pediatric Cancer Taskforce, and Disease Ontology, with the goal of enhancing pediatric cancer curation and the public dissemination of high-quality childhood focused interpretations. He serves as the Coordinator of the ClinGen Somatic Cancer Clinical Domain Working group, its Taskforces, and Somatic Cancer Variant Curation Expert Panels.
Kathleen Schieffer, PhD, FACMG, is a Director of the Institute for Genomic Medicine Clinical Laboratory at Nationwide Children’s Hospital. She is an Assistant Professor – Clinical within the Departments of Pathology and Pediatrics at The Ohio State University College of Medicine. Dr. Schieffer received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine in 2017. She joined the Institute for Genomic Medicine at Nationwide Children’s Hospital as a post-doctoral fellow with a focus on genomic and transcriptomic analysis of patients with rare and refractory hematologic disease, cancer, and somatic disease who enrolled on an institutional translational cancer genomics protocol. She assumed a position as a Laboratory Genetics and Genomics fellow with Nationwide Children’s Hospital and The Ohio State University, with completion and board certification in 2021. Dr. Schieffer joined the faculty at the Institute for Genomic Medicine in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease, in particular the utilization of next-generation sequencing assays to provide comprehensive molecular characterization of pediatric cancers.
“Jeremy Segal, MD, PhD is the director of Molecular and Cytogenetic Pathology and Associate Professor of Pathology at The University of Chicago. He completed his MD and PhD at Weill Cornell Medical College and The Rockefeller University in New York City as part of the Tri-Institutional MD/PhD program.
After graduating, he stayed at New York Presbyterian Hospital – Weill Cornell Medical Center for Anatomic Pathology residency training, and then moved to the University of Pennsylvania for fellowship training in Molecular Genetic Pathology. After fellowship, he served as an Instructor in Clinical Investigation at Rockefeller University and as the Director of Clinical Development and Policy for the New York Genome Center before joining the faculty at the University of Chicago in 2013 to spearhead the development of their next generation sequencing (NGS) personalized oncology diagnostics program.
At the University of Chicago, Dr. Segal is focused on the clinical development and implementation of advanced genomic testing methodologies to help diagnose and manage patients with solid tumors and hematological malignancies. He is also a Co-Founder of the Genomics Organization for Academic Laboratories (GOAL), a consortium effort dedicated to the advancement of genomic testing at academic and non-profit laboratories.”
Kevin is currently a hematopathology resident at the University of British Columbia with an interest in the genetic landscape of hematological malignancies. He previously completed an undergraduate degree in biochemistry and a PhD in chemistry. His current research focuses on developing improved diagnostic strategies for hematological malignancies.
I am a senior quantitative scientist within the translational research arm at Delfi Diagnostics, holding 10+ years of experience in the fields of cancer genomics, bioinformatics, and computational biology. My current research focuses on the creation and development of models, algorithms, and software to aid in the discovery and interpretation of genomic mechanisms as they relate to early detection of cancer from cfDNA fragmentomics, as well as the utilization of these resources in analyzing large cohorts of sequencing derivied data. In addition to my primary research focus, I am involved in the creation of educational resources in the areas of bioinformatics, genomic data visualization, cancer genomics and transcriptomics, and precision medicine. I have contributed to the development and delivery of more than ten educational workshops both domestically and internationally.
Anastasia Bratulin graduated from the University of North Florida with a MS in Biology and is currently working to complete her PhD at the Ohio State University in the Biomedical Sciences Gradate Program. Her research, in the lab of Dr. Alex Wagner, is focusing on the analysis of normalizer softwares using genetic data.
“Dr. Francesc Solé is one of the world’s leading authorities in Cytogenetics in Myelodysplastic Syndromes (MDS or MDS in English). He was involved in the recent IPSS-R and IPSS-M scoring systems at MDS. He is an associate professor at the Pompeu Fabra University (Barcelona), the University of Barcelona (UB) and the Autonomous University of Barcelona (Bellaterra).
From 1996 to 2008, he was coordinator of the Spanish Working Group on Cytogenetics in Hematology (GCECGH) of the SEHH (Spanish Society of Hematology and Hemotherapy). From 2004 to 2012 he was a member of the Eurogenest Hematology Quality Control Steering Committee. Since its creation, he is a member of the Spanish Group of Myelodysplastic Syndromes (GESMD) and of the world MDS group, IWG-PM, and since 2012 he is a member of the ELN. Currently, he is the Scientific Coordinator of the Josep Carreras Leukemia Research Institute-ICO-GTiP Campus (Badalona), Coordinator of the Biological Sample Bank Unit for patients with haematological cancer, Cytogenetics Unit and Microarray Unit and Head of Group of the MDS Group. He is the author of more than 300 peer-reviewed publications and serves on multiple national committees and scientific advisory boards for numerous for-profit and non-profit organizations.
Dr. Solé is a reviewer for the following journals: American Journal of Hematology, Blood, British Journal of Haematology, Cancers, Genes Chromosomes and Cancer, Haematologica, Leukemia, Leukemia Research, and Leukemia and Lymphoma.”
Katie Stahl received her degree in Computer Science with a minor in Mathematics from Capital University in 2019. She is passionate about developing applications that promote the sharing of knowledge and information. Katie does full-stack development for Alex Wagner’s lab at Nationwide Children’s Hospital, working with research staff to develop open-source bioinformatics applications for efficient data analysis and visualization. Her work in the Wagner lab has included designing and developing the Gene Fusion Curation interface, the Drug/Gene Interaction Database interface, and the Variation Categorizer tool.
James Stevenson is a bioinformatics software developer in the Wagner Lab at the Institute for Genomic Medicine at Nationwide Children’s Hospital in Columbus, Ohio. He works on software tools to support data ingestion, standardization, and interoperability to support genomic knowledge harmonization. He holds a bachelor’s degree in philosophy from the University of Puget Sound and is pursuing a master’s degree in computer science from the Georgia Institute of Technology.
Dr. Madina Sukhanova is an Assistant Professor of Pathology at Northwestern University Feinberg School of Medicine. She earned her PhD degree in genetics from the Institute of Cytology and Genetics, Novosibirsk University, Russia and completed her clinical cytogenetics and molecular genetics fellowships at the University of Chicago. She has been with Division of Molecular Pathology since 2018 where she is the co-director of the cytogenetics laboratory and assistant technical director of molecular diagnostics laboratory. Her research work focuses on evidence-based subclassification of high-risk hematologic malignancies and identification of genetic markers of potential therapeutic significance.
Victoria Tomaz holds a degree in biomedicine and specializes in Hematology and Bioinformatics applied to Medical Genomics. She completed her master’s degree at the Graduate Program in Health Sciences at Hospital Israelita Albert Einstein and is currently a PhD student at the same institution. She also works as a visiting professor at the postgraduate courses in Molecular Biology at the São Paulo Institute of Research and Health Education (IPESSP) and Multiprofessional Oncology at Hospital Israelita Albert Einstein.
Gokce Toruner, MD, PhD is a laboratory geneticist specialized in clinical cytogenetics and clinical molecular genetics. He is currently an associate professor in the Department of Hematopathology at the MD Anderson Cancer Center. Dr. Toruner received his medical degree from Hacettepe University, Turkey and earned his Ph.D. from Bilkent University, Turkey. Following his research post-doctoral training at the Rutgers-New Jersey Medical School, he completed a clinical laboratory fellowship in clinical molecular genomics and cytogenomics in the same institution. His clinical expertise is on cancer cytogenomics, NGS based solid tumor testing, and liquid biopsy. His current academic activities focus on structural and copy number aberration in neoplasia and incidental constitutional genetic findings detected during somatic genetic testing.
Yvonne Vasquez is a Ph.D. candidate at the University of California Santa Cruz in the Department of Molecular, Cell, and Developmental Biology. She is currently working in the lab of Dr. Olena Vaske and studying how transcriptomics can be leveraged to improve the diagnosis and treatment of children affected by rare genetic diseases. Yvonne is passionate about STEM outreach and promoting diversity in science. She currently runs a bioinformatics internship (TUBI) for undergraduates who identify as underrepresented minorities or first-generation students. This program provides students with a structured learning environment to work on bioinformatics projects related to pediatric cancer.
I am a fourth-year medical student at the University of Miami Miller School of Medicine and will be applying into residency programs in Pediatrics. I am interested in Pediatric Hematology-Oncology, and this research project was conducted as part of the Summer Oncology Research Fellowship program at Children’s Hospital Los Angeles/USC. I grew up in the Philadelphia suburbs and received my undergraduate degree in Biology from the University of Pennsylvania, where I got my first exposure to the world of research while working in a leukemia research laboratory. After graduating from Penn, I worked in a pancreatic cancer laboratory for two years before matriculating at UMMSM. I hope to continue engaging in cancer research, both basic science and clinical, throughout my career. Outside of my academic life, I love enjoying music, riding my Peloton, and being a die-hard Philadelphia sports fan in absentia.
I am a sixth-year graduate student in Dr. Hui Li’s lab at the University of Virginia. I have a strong interest in developing novel disease-relevant genetic variants into diagnostic biomarkers and therapeutic targets. Our lab focuses on studying fusion genes and chimeric RNAs in normal physiology and various diseases. In my current research, I focus on studying a female-specific chimeric RNA that is enriched in the circulating blood cells. I uncover the molecular mechanisms of this chimeric RNA formation by investigating chromatin structure, accessibility, and histone modifications. To understand the role of this female-specific chimeric RNA in sex-biased diseases, I also investigate its potential function in blood cell differentiation and screen its expression in massive clinical blood samples. With my extensive experience in identifying and validating chimeric RNAs, I contributed one chapter to the book “Advances in Clinical Chemistry”, three chapters to the book “Chimeric RNA: Methods and Protocols”, and other research publications. For my long-term goal, I strongly desire to be a clinical geneticist.
Yajuan Liu, PhD, FACMG is currently a professor in the Department of Laboratory Medicine and Pathology at University of Washington. Being board certified in both Clinical Cytogenetics and Genomics and Clinical Molecular Genetics, she currently serves as the head director of both the Clinical Genomics Laboratory and the Cytogenetics Laboratory at UW Medical Center. Dr. Liu is passionate in teaching and is the program director of the ACGME-accredited Laboratory Genetics and Genomics (LGG) fellowship program at UW. Her research focus is on translational research using genomic approaches to aid the understanding of inherited diseases and the etiologies of cancers. She has contributed to over 60 papers in peer-reviewed journals. Dr. Liu has been an active member of the Cancer Genomics Consortium since 2009 (aka CCMC). She participated in CGC working groups including the renal cell carcinoma, central nervous system tumor, and breast cancer working groups.