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.

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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 Duarte

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.

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.

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.

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“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. 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.

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. “

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.

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.

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.

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.

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.

“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.

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.”

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.