Ms. Olivia Lee, B.S., is an NIH Graduate Partnership Program (GPP) fellow at the NCI Division of Cancer Epidemiology and Genetics and is currently completing her doctoral degree in quantitative sciences and cancer biology at the University of Texas MD Anderson Cancer Center. Her doctoral research focuses on investigating the interaction between somatic mutations and germline variants in Ewing Sarcoma and profiling the genomic landscape of thyroid cancer metastasis following the Chornobyl accident and 22q loss in papillary thyroid carcinoma.

Dr. Mitchell Machiela received his M.P.H. in epidemiology from the University of Michigan and his Sc.D. in epidemiology from the Harvard T.H. Chan School of Public Health. In 2017, Dr. Machiela was appointed as Earl Stadtman Investigator in the Integrative Tumor Epidemiology Branch. His research program is focused on understanding the role of inherited variation and acquired mutations in cancer risk. His large-scale investigations of mosaic chromosomal alterations have led to improved knowledge of the risk factors and outcomes associated with this type of clonal hematopoiesis. He also conducts genetic association studies to uncover the underlying genetic architecture of cancer (e.g., Ewing sarcoma). Dr. Machiela has received numerous awards and honors for his research, including being selected as a Forbeck Scholar and receiving an NCI Directors Award and Outstanding Mentor Award. 

Chief Genomics Officer, UAB Medicine 
Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB

Beryl Cummings completed her PhD in human genetics at Harvard Medical School and the Broad Institute, where she was part of the Genome Aggregation Database (gnomAD) team. After her training, Beryl was an early hire into the human genetics team at Maze Therapeutics. She is currently a Senior Associate at Third Rock Ventures, working on building new biotech companies. She is motivated by continually learning the best ways to leverage human genetics in drug discovery and is passionate about bringing new therapies to rare disease families.

Jay Shendure is an Investigator of the Howard Hughes Medical Institute, Professor of Genome Sciences at the University of Washington, Director of the Allen Discovery Center for Cell Lineage Tracing, and Scientific Director of the Brotman Baty Institute for Precision Medicine. His 2005 doctoral thesis with George Church included one of the first successful reductions to practice of next generation DNA sequencing. Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders and autism; cell-free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays, saturation genome editing; whole organism lineage tracing, and massively parallel molecular profiling of single cells. Dr. Shendure is the recipient of the Curt Stern Award from the American Society of Human Genetics (2012), the Richard Lounsbery Award from the National Academy of Sciences (2019) and the Mendel Award from the European Society of Human Genetics (2022) and is an elected member of the American Association for the Advancement of Science (AAAS) and the National Academy of Sciences (NAS). He serves or has previously served as an advisor to the NIH Director, the US Precision Medicine Initiative, the National Human Genome Research Institute, the Chan-Zuckerberg Initiative and the Allen Institutes for Cell Science and Immunology. He received his MD and PhD degrees from Harvard Medical School in 2007. 

Mary Canady has a Ph.D. in biochemistry from University of California, Riverside and is the founder of Biotech Networks, the leading resource for more than 50 thousand life scientists to connect, learn, and grow, with hubs across the US.  

Dr. Canady has led marketing and communications teams to meet business objectives at large global life science companies as well as at biotech startups.  

Mary is also a leader in advancing science communication, advocacy, and diversity and has led organizations and teams to further her life’s mission to empower every scientist to make a bigger impact.  

Dr. Reddi is a Professor and Chief for the Division of Precision Medicine and Cytogenetics and Director of the Precision Medicine Laboratory in the Department of Pathology at the Medical College of Wisconsin (MCW). Dr. Reddi has a doctoral degree in biotechnology and trained in Clinical Molecular Genetics at the Mayo Clinic in Rochester, Minnesota, where she also led a translational research program focused on thyroid cancer. In 2018 Dr. Reddi received the prestigious “Women of Innovation Award” in the Category of Large Business Innovation and Leadership from the Connecticut Technology Council, which recognizes extraordinary creativity and leadership in bioscience and technology. Her research interests include cancer biology, viro-therapeutics and the genetics of somatic and inherited disorders. Dr. Reddi is passionate about impacting patient-care through innovation and translation and is known for inspiring women in Biomedical sciences through her leadership ethic. 

Dr. Kerstin U. Ludwig is a Principal Investigator and Group Leader at the Institute of Human Genetics at the University of Bonn, Germany. She obtained her undergraduate training at the Universities of Dresden (Germany), Strasbourg (France) and Toronto (Canada). In her PhD studies at the University of Bonn, she worked on the genetics of psychiatric disorders before turning towards studying the genetic etiology of orofacial clefting. As part of this work she has contributed to the discovery of several risk loci for nonsyndromic cleft lip w/wo cleft palate and the identification of subtype-specific effects of risk variants. Since 2020 Kerstin Ludwig has been engaged in international efforts to study the host genetics of COVID-19, as part of which she is leading the German contributions. She has received numerous awards for her research, including admissions to the Emmy-Noether program of the German Research Council and the “Junges Kolleg” of the NRW Academy of Arts and Sciences, and the Marylou Buyse Award for Excellence in Craniofacial Research in 2020. 

Dr. Henry Akintobi, Professor and Chair of Community Health at Morehouse School of Medicine, is a graduate of the University of South Florida College of Public Health where she earned her Doctor of Philosophy in Public Health in the Department of Community and Family Health. She is a globally sought health equity champion and social behavioral scientist, leading, or collaborating, in the implementation of translational research and participatory evaluations that address health disparities and advance community or population health transformation.  

Dr. Henry Akintobi serves as Principal Investigator and Director of the Morehouse School of Medicine Prevention Research Center (PRC), the first institutionally designated center advancing community-based participatory research, competitively funded by the Centers for Disease Control and Prevention (CDC) since 1998. Dr. Henry Akintobi leads the Georgia Community Engaged Alliance (CEAL) Against COVID-19 Disparities funded by the National Institutes of Health (NIH). She also represents Morehouse School of Medicine as its PI, lead or Senior Advisory for other NIH grants including Georgia Center for Diabetes Translation Research, the Georgia Clinical and Translational Science Alliance Community Engagement Program, and Georgia RADx-Underserved Populations-Promoting Engagement and COVID-19 Testing for Health, among others. She is an extensively published contributor to the peer reviewed literature and co-author of the Johns Hopkins University Press text entitled The Morehouse Model: How School of Medicine, Revolutionized Community Engagement and Health Equity and the CDC-NIH co-sponsored Principles of Community Engagement Primer (2nd Edition), among many other books and publications.  

As Associate Dean for Community Engagement, Dr. Henry Akintobi advances MSM efforts to promote and strengthen effective partnerships between faculty, staff, and students and community residents and leaders, government agencies, faith-based organizations, or health and social service agencies. She has led collaborations with education, clinical, research, practice, and policy leaders to demonstrate preeminence in community health and related engagement strategies through successful acquisition of local and national awards including but not limited to the Carnegie Designation for the Advancement of Teaching in Community Engagement and the Josiah Macy Inaugural Award for Excellence in Social Mission. Her public health research and practice leadership have been designed to advance the art and science of community engagement. Specifically, her work has focused on community engaged translational research science, the practice of community-based participatory research (CBPR), and approaches to build and sustain effective partnerships among academic institutions, community residents, health departments, and policy leaders to understand, develop and shape research, policy and practice strategies to address health disparities and their root causes thereby advancing health equity led. Her work is guided by training in public health social epidemiology, social marketing, community-based participatory research, and evaluation. 

Prof Ambroise Wonkam is a professor of Genetic Medicine, and he is the Director of McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.

He is also Director of GeneMAP (Genetic Medicine of African Populations), and immediate past Deputy Dean of Research at the Faculty of Health Sciences, University of Cape Town, South Africa.

After his MD training from the Faculty of Medicine and Biomedical Sciences, University of Yaoundé He (Cameroon), he completed a thesis in Medical Sciences (cell biology) at the University of Geneva (Switzerland), and a PhD in Human Genetics (University of Cape Town, South Africa). Prof Wonkam also trained as a medical geneticist at a highly reputable Genetic Medicine program at the University of Geneva (Switzerland). He subsequently practices Genetic Medicine in both European and African contexts.

His research interests are reflected in more than 200 peer-reviewed publications. His research centers on genetic and genomic variation in African population with focus on: on 1) Genomics modifiers of Sickle Cell Disease (SCD); 2) Genetics of hearing Impairment, and 3) Ethical and educational Issues in human genetics. Prof Wonkam has led successfully over the past 10 years numerous NIH and Wellcome Trust funded projects accounting for about 20m USD, to pursue research studies in various countries in Africa (Tanzania, Cameroon, Nigeria, Zimbabwe, Zambia, Uganda, Mali, Sudan, Rwanda, and Ghana).

He was awarded the 2003 Denber-Pinard Prize for the best thesis from the Faculty of Medicine, University of Geneva, Switzerland, and won the very competitive Clinical Genetics Society International Award in 2014 from the British Society of Genetic Medicine, the 2021 Alan Pifer Award from UCT, and the 2021 MRC South Africa Gold Scientific Merit Award for the excellence of his research.

Prof Wonkam is associate Editor of the American Journal of Human Genetics, the American Journal of Medical Genetics, the Journal of Community Genetics, and Academic Editor of Plos One, and he is a member of the editorial Board of Human Genetics.

Prof Wonkam is president of the African Society of Human Genetics, Chair of the steering committee of H3Africa consortium, Board member of the International Federation of Human Genetics Societies, steering committee’s member of the Global Genetic Medicine Collaborative (G2MC), and Faculty Scholar of the Human Genome Organization (HUGO).

Dr. Andrew Landstrom is an Associate Professor of Pediatrics (Division of Cardiology) and Cell Biology at Duke University.  He completed an MD and PhD at the Mayo Clinic College of Medicine where he explored the genetic causes of cardiomyopathies and heritable arrhythmias.  He completed pediatrics residency, pediatric cardiology fellowship, and an advanced fellowship in pediatric electrophysiology at Texas Children’s Hospital at Baylor College of Medicine.  There, he also completed a postdoctoral research fellowship in cell and molecular physiology.  He subsequently joined Duke’s Department of Pediatrics as a cardiologist specializing in the care of children and families with heritable cardiac disease, channelopathies, and cardiomyopathies.  He leads an NIH-funded lab which identifies novel genetic loci associated with arrhythmia and cardiomyopathy development and determines molecular mechanisms of disease development using induced pluripotent stem cells and genetic mouse models.  The overall goal of his work is to identify new causes of heritable cardiac disease and to create new therapies to treat these life-threatening diseases. 

Dr. Erping Long is the postdoctoral fellow in the Laboratory of Translational Genomics (LTG). Dr. Long completed his M.D., Ph.D.in Clinical Medicine (Ophthalmology) from Zhongshan Ophthalmic Center, Sun Yat-sen University, China in 2020. An independent part of his doctoral research was conducted at the University of Michigan, Ann Arbor, where he worked on how evolutionary force shapes the genetic risk of human senescence and disease. In LTG, Dr. Long conducts research that leverages computational approaches and large-scale functional genomics resources to understand genetic susceptibility to lung cancer and melanoma, under the mentorship of Dr. Choi, and Mitchell Machiela, Sc.D., M.P.H., Earl Stadtman Investigator, Integrative Tumor Epidemiology Branch. He was one of 10 recipients awarded the Ray Wu Prize in 2020, the highest honor for Chinese Ph.D. students in Life Science. 

Dr. Jiyeon Choi is an Earl Stadtman Investigator at the Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, in National Cancer Institute (NCI). Dr. Choi received her B.S. from Ewha Womans University and her M.S. from Korea University in Seoul, Korea, and her Ph.D. in cell and developmental biology from Rutgers University in New Jersey. Dr. Choi joined NCI for her postdoctoral training and was promoted to an Investigator in 2019. Dr. Choi’s research focuses on understanding genetic susceptibility to lung cancer and melanoma. Dr. Choi has received numerous awards for her work, including the NCI Director’s Intramural Innovation Award, the DCEG Outstanding Research Paper by a Fellow, and the NCI Outstanding Mentor Award. Dr. Choi was selected for the NIH Distinguished Scholars Program in 2019.

Dr. Brower is a medical geneticist at the American College of Medical Genetics and Genomics in Bethesda, MD and is the Co-Principal Investigator of the Newborn Screening Translational Research Network (NBSTRN) as part of Eunice Kennedy Shriver National Institute of Child Health and Human Development’s (NICHD) Hunter Kelly Newborn Screening Research Program. Dr. Brower directs a team that develops informatics platforms, resources and tools to collect, analyze, visualize and share longitudinal clinical and genomic research data to better understand genetic disease across the lifespan.  The NBSTRN collaborates with national research projects working to discover new ways to detect and treat diseases affecting newborns and young children, including a five-year collaborative effort to understand the benefits of sequencing the genome of newborns, a two-year pilot of Duchenne Muscular Dystrophy to assess the benefit of early identification and treatment through newborn screening. Dr. Brower is also the Director of a two-year effort funded by the Health Resources and Services Administration (HRSA) called the Long-Term Follow-Up Cares and Check Initiative. This effort is working to improve the longitudinal follow-up of individuals identified with a disease through newborn screening. Amy has a background in medical genetics, genomics, informatics, FDA submissions, newborn screening, translational research, molecular diagnostics and bioinformatics.  She was a member of the Human Genome Project and International HapMap Project and developed molecular diagnostic and informatics platforms over a decade of work in the device industry. Dr. Brower serves on several national and foundation advisory boards and was an inaugural member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Amy received her doctorate degree in Medical Genetics at the University of Nebraska Medical Center. Amy is the parent of a son with Severe Combined Immunodeficiency.

Yekaterina Unnikumaran, is the Genetic Data Integration Analyst and the staff lead for the Bioethics and Legal Workgroup at NBSTRN. She holds a Master of Science in Bioinformatics and a Master of Education from the University of Maryland. Her diverse background includes experience in software development, data analysis, and instructional design, as well as proficiency in programming languages such as Python, Java, R, and SQL. Additionally, she has held leadership positions in STEM education and has taught courses in human anatomy and physiology, biology, and ecology at the university level.

Her current projects include updates to data tools such as the LPDR tool and dissemination campaigns, such as editing video sessions for Network or Summit meetings. She was also part of the team that contributed content to the ELSI Advantage tool.

Galata Tona is a Data Engineer at the American College of Medical Genetics and Genomics (ACMG) for the Newborn Screening Translational Research Network (NBSTRN). He holds a Masters Degree, in International Development from the University of Pittsburgh, where his passion for Data Analysis/Science was sparked as he explored the field of Econometrics. He started his career in Data Analysis as Data Coordinator with SOS Children’s Villages-USA, a world-renowned non-profit organization committed to building homes and families for orphaned and vulnerable children in need. He would later become SOS Children’s Villages-USA’s Solutions Engineer, where he would lead the Data Team in building Data tools and processes that removed the need to manual data aggregation and repetitive data entry. He has experience working in Python, JavaScript and Data Science.

Kevin Wilhelm is a current graduate student in the Genetics and Genomics Graduate Program at Baylor College of Medicine. He obtained his undergraduate degree in Veterinary and Biomedical Sciences from the University of Nebraska-Lincoln and his Professional Science Master’s in Bioinformatics from the University of Maine-Orono. He is currently working in Dr. Olivier Lichtarge’s lab to discover novel genetic risk factors in complex diseases using evolution-based variant impact predictors, whole exome sequencing, and machine learning. He was recently selected for a fellowship through the Gulf Coast Consortia to further study complex genetic risk factors and prioritize candidates for drug repurposing studies.

Dr. Kee Chan received her PhD in Epidemiology and Public Health from Yale University.  Her PhD dissertation was focused on the development of a newborn screening test for severe combined immunodeficiency (SCID). Dr. Chan joined NBSTRN as the Scientific Strategy Manager. Her role involves building new strategic partnerships with academia, non-profit organizations, governmental agencies, and industries to expand the NBSTRN network.  Dr. Chan leads a working group with different stakeholders to advance newborn screening research into public health practice and implementation. Dr. Chan has given workshops on effective communication and is serving as the public relations NBSTRN staff to amplify the voices of stakeholders involved in newborn screening research.

Lee is a Principal Solutions Architect with the Health AI services team at AWS focused elevating the user experience performing large scale bioinformatics and genomics data analysis in the cloud. He has a PhD in Bioengineering and over a decade of hands-on experience as a scientist and software engineer in bioinformatics and computational systems biology, developing tools for high throughput *omics data processing and analysis.

Vamsee Pillalamarri is a PhD Candidate in Human Genetics at the Johns Hopkins University School of Medicine and is cross trained by the Johns Hopkins Bloomberg School of Public Health through the Maryland Genetics, Epidemiology, and Medicine training program. At Hopkins, with the supervision of Dr. Dan Arking, he investigates the role of mitochondrial DNA variation and copy number in complex traits and disease, and further studies the impact of complex genetic risk for autism spectrum disorder within general and admixed populations. Prior to his predoctoral studies, he earned bachelor’s and master’s degrees in Computer Science / Computational Biology from Carnegie Mellon University in Pittsburgh, PA, worked at the MIT Lincoln Laboratory in Boston, MA in forensic genetics, and served as a bioinformatics specialist and researcher at Massachusetts General Hospital within the lab of Dr. Michael Talkowski investigating the impact of complex structural variation for autism spectrum disorders.

Contact Vamsee Pillalamarri:

Twitter: @vkpillal

Email: vpillal1@jhmi.edu 

Dan E. Arking, Ph.D., is a Professor of Genetic Medicine at the Johns Hopkins University School of Medicine, and is the Deputy Director of Research in the Department of Genetic Medicine.  Dr. Arking earned his doctoral degree in human genetics from the Johns Hopkins University School of Medicine in 2001 and completed a postdoctoral fellowship at Johns Hopkins in the laboratory of Dr. Aravinda Chakravarti in 2005. Dr. Arking’s research focuses on identifying and characterizing genetic variants underlying complex human disease, with a specific focus on aging-related diseases and autism. Recent work has focused on the role of mitochondrial DNA variation in cardiovascular disease and overall mortality.