David Bick MD is the Principal Clinician for the Newborn Genomes Programme at Genomics England. Prior to his work in England, he was the chief medical officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. Dr. Bick also served as the Medical Director of the Smith Family Clinic for Genomic Medicine at HudsonAlpha and the Laboratory Director of the HudsonAlpha Clinical Services Laboratory. He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology and Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin. Dr. Bick is board certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics. Dr. Bick has published numerous peer-reviewed articles, chapters, and reviews. His laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States.

.

Monica Giovanni is a co-founder and chief genomics officer of Inflection Medicine, where she leads clinical affairs and innovation. To this role, she brings over 15 years of experience as a board-certified genetic counselor. Before joining Inflection, Monica served as director of clinical genomics strategy and clinical investigator at Geisinger Health System, where she helped establish the clinical return of results program in support of the Geisinger MyCode Community Health Initiative. She began her clinical practice at Brigham & Women’s Hospital where she rose to director of genetic counseling services and training coordinator, as well as course director for the Harvard Medical School Genetics Training program. In addition to her clinical and research work, Monica has held leadership roles within the American College of Medical Genetics and the American Society of Human Genetics, where she served as chair of the education committee and member of the public education and awareness committee, respectively. Monica holds a Bachelor of Science in biology from Boston University and a Master of Science in human and medical genetics from the University of Cincinnati College of Medicine. She completed her advanced training at Cincinnati Children's Hospital.

Page earned her BS in Molecular, Cell, and Developmental Biology from UCLA and her PhD from Stanford where she worked with the Undiagnosed Disease Network leveraging gene expression information to improve rare disease diagnosis, and part of an international team developing an African functional genomics resource. At RCIGM, she is leading efforts in federated queries of largescale databases like All of Us to improve newborn screeing, and is supporting in the development of prospective newborn screening pipelines. She is passionate about improving representation and diversity in genetic research both in her lab work and through her work with high school outreach programs.

Dr. Meredith Wright is the Director of Technology and Innovation at Rady Children’s Institute for Genomic Medicine. Her work lies at the intersection of molecular genetics, data science and technology, and clinical implementation for rare disease research and diagnosis. Her role at Rady is to bring new genomic resources into clinical implementation for both rare disease diagnostic testing and scaling newborn screening by WGS. Meredith is a part of multiple working groups centered around technology, data science, and clinical feasibility with a focus on building scalable and equitable diagnostic and newborn sequencing platforms.

Dr. Velinov is board-certified in Pediatrics, Clinical Genetics, and Genomics. He is a Professor in Pediatrics and the director of the genetic division in the department of pediatrics, RWJMS. His research was funded by NIH, CDC, NJ Health Foundation, and the private sector. He served as a reviewer for the CDC and for multiple medical journals. He authored three book chapters and more than 70 peer-reviewed articles in clinical genetics and genomics. His research interests include genomic testing, gene therapy, and rare neurodevelopmental disorders.

Erica Wright is a certified genetic counselor and assistant professor at the Inherited Metabolic Diseases Clinic at Children’s Hospital Colorado. Ms. Wright completed her undergraduate degree in biological sciences at the University of Delaware in 1999 and her masters of science in genetic counseling at the University of Colorado Health Sciences Center in 2003. She began her career working as a genetic counselor at Children’s Hospital Colorado in 2003. Ms. Wright has worked on both the clinical side and public health side of newborn screening. Currently, Ms. Wright is the metabolic newborn screening coordinator for Colorado and Wyoming. She has a strong interest in quality improvement in newborn screening and has worked on numerous grants and committees over the years regarding both short-term and long-term follow-up. More recently, Ms. Wright had been working with the BabyNGS project at the University of Colorado site, communicating positive results to both primary care providers and parents.

Dr Rebecca Reimers is clinically trained in maternal-fetal medicine and clinical genetics at Brigham and Women's and Boston Children's Hospitals following an obstetrics and gynecology residency in the Harvard system. She currently practices pediatric genetics, perinatology, and leads two clinical trials; one in genome sequencing for newborn screening (BeginNGS) and the other in genome sequencing for prenatally diagnosed congenital heart disease. Her research is through Rady Children's Institute for Genomic Medicine and she is an assistant professor at both Scripps Research Translational Institute and the University of California, San Diego. Dr Reimers has skills in clinical assessment of pediatric and prenatal patients with anomalies or genetic disorders, fetal ultrasound, and care of medically and surgically complex pregnancies. She has worked as a clinical lab technician at Cedars-Sinai Medical Center Cytogenetics lab and has a Master in Public Health degree with a focus in Epidemiology focusing on expanded newborn screening in Louisiana. Through prior research with the Undiagnosed Diseases Network (UDN), she has skills in sequence variant interpretation and the bioinformatics of genomic sequencing. She has experience with retrospective and prospective projects in the prenatal and pediatric genomics space including enrolling patients and she is on the Board of the International Society of Prenatal Diagnosis and active in the Society for Maternal Fetal Medicine. Dr Reimers' long-term goal as a researcher is to improve equitable counseling and care for families with pediatric genetic disorders or fetal anomalies through rapid genetic diagnosis. Bibliography: https://www.ncbi.nlm.nih.gov/myncbi/1v7jxcKUTahErg/bibliography/public/

This has been provided to via Email.

Dr. Caleb Bupp, MD is a pediatrics trained, board-certified medical geneticist with Corewell Health and Helen DeVos Children’s Hospital in Grand Rapids, Michigan. He serves as the Division Chief of Medical Genetics and Genomics. He is also an assistant professor at Michigan State University. He serves on his hospital’s Research Advisory Council, Professional Standards Committee, and is a member of the Michigan Make-A-Wish Medical Advisory Council. He co-discovered a treatable genetic syndrome caused by ODC1 mutations now termed Bachmann-Bupp syndrome and is the clinical director of the International Center for Polyamine Disorders. This was recently recognized by the New York Intellectual Property Law Association as their ‘Inventor of the Year’ for his patent related to this condition. In addition, he has worked on teams that have discovered other novel genetic syndromes. He helped create and run Project Baby Deer, a statewide initiative to provide access to rapid whole genome sequencing which resulted in Michigan Medicaid being the first to create an approval and carve-out payment policy. Dr. Bupp helped form the Rare Disease Network which provides support and education throughout Michigan. He also helped establish the annual State of Michigan Clinical Genetics Meeting and the Strategic Team for the Advancement of Rare Disease Treatment (START) at Helen DeVos Children’s Hospital and has been named a Grand Rapids Magazine ‘Top Doctor’. Dr. Bupp received his Bachelor of Science in molecular biology from Grove City College in Grove City, Pennsylvania, and his medical degree from the University of Toledo College of Medicine in Ohio. He completed pediatrics residency at the University of Louisville in Kentucky and his medical genetics training at the Greenwood Genetic Center in South Carolina.

Jerica Lenberg is Lead Genetic Counselor at Rady Children’s Institute for Genomic Medicine in San Diego, California. Jerica provides genetic counseling and clinician support for inpatients at Rady Children’s Hospital undergoing rapid whole genome sequencing. In addition, Jerica coordinates the RCHSD Precision Medicine Clinic, conducts clinical genome analysis at the RCIGM Clinical Genome Center, supports development and implementation of research studies, and serves as adjunct faculty at Augustana University and Keck Graduate Institute.

Robert L. Nussbaum, MD is adjunct Professor of Pediatrics (Volunteer) at the UCSF after having retired in 2023 after 8 years as Invitae’s Chief Medical Officer. He is a Fellow of the American College of Physicians, a Founding Fellow of American College of Medical Genetics, a former Board member and Treasurer of the American Board of Medical Genetics and Genomics and served as a member of the Board of the Directors and Past President of the American Society of Human Genetics. From 2006-2015, he was the Holly Smith Professor of Medicine and Division Chief at UCSF. Prior to coming to UCSF, he served in the intramural research program of the National Human Genome Research Institute from 1993-2006 and prior to NIH, he was a Professor at the University of Pennsylvania from 1984-1993. He has an undergraduate degree in Applied Mathematics from Harvard College (1967-1971) and an MD degree from the Harvard-MIT Joint Program in Health Sciences and Technology (1971-1975). He served as a resident in Internal Medicine at Barnes Hospital (1975-1978) and a fellow in Medical Genetics at Baylor College of Medicine (1978-1981). He is the co-author of nearly 400 peer-reviewed publications in human genetics, numerous commentaries, editorials, and textbook chapters. He was elected to the National Academy of Medicine in 2004 and the American Academy of Arts and Sciences in 2015. He was awarded the Klaus Joachim Zulch Prize in 2011 and the Van Andel Prize in 2015 for his work on Parkinson Diseaser

Dr. Louis Ehwerhemuepha is the Director of Computational Research at Rady Children's Health, Orange County, where he leads the health system’s pediatric data science research program and oversees a multidisciplinary team of data scientists, computational scientists, and biostatisticians. In this role, he develops and manages nationally recognized research initiatives that advance RCH’s mission to improve the health and well‑being of children through data‑driven innovation. His work spans machine learning, predictive modeling, artificial intelligence, and clinical decision‑support systems, with applications across the full spectrum of pediatric care. Dr. Ehwerhemuepha also serves as an Associate Adjunct Professor of Pediatrics at the University of California, Irvine and as Adjunct Faculty at Chapman University, where he contributes to academic research and mentorship in computational science, biomedical data science, and AI for healthcare.

Danny Oh is the Director of Bioinformatics and Software Engineering at the Rady Children’s Institute for Genomic Medicine, where he leads multidisciplinary teams at the intersection of genomics, software engineering, and large-scale data systems. With over a decade of experience in bioinformatics, he has played a key role in building and scaling genomic platforms that support rapid genome analysis and large-scale research initiatives. His work focuses on advancing genomic science through automation, scalable infrastructure, and the integration of emerging technologies such as artificial intelligence and machine learning. More recently, he has been leading efforts to develop highly automated, large-scale genomic analysis frameworks designed to improve efficiency, scalability, and data-driven discovery. Danny is particularly passionate about driving innovation by combining data, engineering, and scientific insight to unlock the full potential of genomics. He is also actively exploring AI-driven approaches to enhance interpretation and reduce manual processes across complex workflows. Beyond his technical contributions, he is known for translating complex systems into clear strategic direction, enabling collaboration across engineering, research, and leadership teams. As a leader, he is committed to fostering high-performing teams and building environments where innovation can thrive. His broader vision is to help scale genomic technologies globally, making them more accessible and impactful for the future of precision medicine.

This has been provided to via Email.

Alexis C. Komor received her B.S. in Chemistry from UC Berkeley and her Ph.D. in Chemistry from Caltech. She then completed postdoctoral studies at the Broad Institute in the lab of David Liu where she invented base editing, the first genome editing method that utilized alternative DNA damage products to double stranded DNA breaks. She started her independent career in 2017 at UCSD where her lab has work to develop new genome editing tools and methods, characterize how these tools function in the context of live cells, and applies them to interrogate the disease-relevance of single nucleotide variants.

Dr. Mingshan Xue is an Associate Professor in the Department of Neuroscience at Baylor College of Medicine and the Caroline DeLuca Scholar in the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital in Houston, Texas. He received his Ph.D. in Neuroscience from Baylor College of Medicine and conducted postdoctoral research at University of California, San Diego. The long-term research goal of his lab is to understand the pathogenesis of neurodevelopmental disorders and harness this knowledge to develop genetic therapies for these disorders. For example, his lab created multiple mouse models of STXBP1-related developmental and epileptic encephalopathy and developed an AAV-based gene therapy for this disorder. His research has been recognized by several awards including the Peter and Patricia Gruber International Research Award in Neuroscience, Janett Rosenberg Trubatch Career Development Award, McKnight Scholar Award, and Impact Award from STXBP1 Foundation.

Richard S. Finkel, MD, is Director of the Center for Experimental Neurotherapeutics and Professor of Neurology and Pediatrics at St. Jude Children’s Research Hospital, Memphis, TN, USA. He received his medical degree from Washington University School of Medicine in St. Louis, and completed his pediatrics, neurology and neuromuscular training at Boston Children’s Hospital and Harvard Medical School. His clinical practice and research interests have focused on pediatric neuromuscular disorders, especially spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), inherited neuropathies (CMT) and neurometabolic disorders. Dr Finkel has participated in numerous clinical trials, natural history genotype-phenotype studies, newborn screening efforts for SMA, and the development of standard-of-care guidelines; and has contributed to the development of outcome measures, clinical trial design, and biomarker identification for neuromuscular disorders. Current interests include early identification and treatment of SMA through newborn screening and potential prenatal therapy. He has published over 300 peer-reviewed manuscripts and book chapters and is an associate editor for a leading textbook, Swaiman’s Pediatric Neurology. Dr. Finkel has received several awards for his research and teaching including the Bengt Hagberg memorial lecture in 2017, the outstanding paper of the year award from the Oligonucleotide Therapeutics Society in 2017, the Sidney Carter Child Neurology Award from the American Academy of Neurology in 2018, and was a co-awardee of the International Prize for Translational Neuroscience of the Gertrud Reemtsma Foundation of the Max Plank Institute in 2019. He was elected to the Association of American Physicians in 2025.

Fyodor Urnov is a Professor of Molecular Therapeutics at UC Berkeley and a Director for Therapeutic R&D at its Innovative Genomics Institute (IGI). He co-developed the initial toolbox of human genome and epigenome editing, co-named genome editing, and was on the team that advanced all of its first-in-human applications to the clinic. He also led the effort that identified the genome editing target for an approved medicine to treat sickle cell disease and beta-thalassemia. A major goal for the field of genome editing and a key focus of Fyodor's work is expanding access to CRISPR therapies for genetic disease. As part of that effort Fyodor directs the Danaher-IGI Beacon for CRISPR Cures - a first-in-class academia-industry partnership developing and advancing to the clinic CRISPR-based platform approaches to treat severe Mendelian diseases of the immune system. Fyodor was the IGI lead on the CHOP/Penn-led effort to develop the world’s first on-demand engineered CRISPR therapy for a newborn with a severe metabolic disorder. He also directs the CZI-IGI Center for Pediatric CRISPR Cures that aims to expand the “CRISPR on-demand” approach exemplified in that effort to multiple additional pediatric patients with severe genetic diseases.

Stephanie Cherqui is Professor in the Department of Pediatrics, Division of Genetics at the University of California San Diego, and the Director of the UC San Diego Gene Therapy Initiative. She is an internationally recognized leader in hematopoietic stem cell gene therapy for metabolic and neurological disorders, with a distinguished record of translating fundamental discoveries into clinical applications. Among her most significant achievements is the development of the first-in-human autologous hematopoietic stem cell gene therapy for cystinosis, an inherited metabolic disorder. Dr. Cherqui has leveraged these discoveries to expand her therapeutic approach to multiple disorders such as Friedreich’s ataxia, mucopolysaccharidosis type IIIC, and Alzheimer’s disease. She is the Chair of the Cystinosis Stem Cell and Gene Therapy Consortium, the Chair of the Scientific Review Board of the Cystinosis Research Foundation, and a member of the ASCGT Gene and Cell Therapy of Genetic and Metabolic Diseases committee. She received the Rady Children’s Hospital and UCSD Physician of Excellence Award for Basic Science Research in 2019, and was nominated in the Beaker list “Top 23 Women in Academic Entrepreneurship” in the 2023 Edition for top translational researchers. Her work is mainly funded by grants from the National Institute of Health (NIH), California Institute of Regenerative Medicine (CIRM), the Cystinosis Research Foundation, Friedreich’s ataxia Research Alliance (FARA), and National MPS Society.

Dr. Kristen Wigby is an Associate Professor of Pediatrics at the University of California, San Diego (UCSD) and the Associate Medical Director of the Rady Children's Institute for Genomic Medicine (RCIGM). She joined RCIGM during her fellowship where she learned genome analysis and then transitioned to become a Clinician Investigator in July 2018. In this role she served as an investigator or co-investigator on studies of applications of short read genome sequencing in multiple pediatric care settings including critically ill children and neonates, medically complex children undergoing a diagnostic odyssey, and underserved populations with suspected Mendelian disorders. She co-founded and serves as co-director of the Precision Medicine Program at Rady Children's Hospital which is a clinical-translation program for patients with undiagnosed or ultra-rare neurological disorders. In her clinical practice as a geneticist and dysmorphologist Dr. Wigby care for children with rare or undiagnosed disorders including inpatient consultation, outpatient Genetics & Dysmorphology Clinic, and as a member of multi-disciplinary teams including the Cleft & Craniofacial Teams, Smith-Magenis Syndrome Clinic, Turner Syndrome Clinic. Dr. Wigby completed her clinical fellowship in Medical Genetics & Genomics at the UCSD and her pediatrics residency at the University of Colorado Denver and the Children's Hospital Colorado. She has been recognized with awards for research and service throughout her training and was selected to the National Center for Academic Medical program at UCSD in 2021. Dr. Wigby was the Children's Miracle Network Endowed Chair in Pediatric Genetics at UC Davis from 2023-2024. She her goal is to apply deep phenotyping, genomic technologies, translational studies and research collaborations to advance genomic medicine at Rady Children's Health and UCSD one child at a time.

Dr. Coufal is a physician scientist with training in pediatric critical care and a research interest in neuroimmunology. The goal of her lab is to understand the contribution of innate immunity to neurodevelopmental and pediatric neurodegenerative diseases. By understanding the interaction between the brain environment and cellular ontogeny on macrophage function, the lab strives to understand the molecular and cellular mechanisms underlying innate immune dysfunction to ultimately identify novel therapeutic targets in untreatable pediatric diseases. Her lab utilizes a combination of translational, patient-specific pluripotent stem cells and genome-wide approaches to identify cellular mechanisms in common neurodevelopmental and rare pediatric neurodegenerative disorders. Her career goal is to bring novel translational therapies to children with neurological diseases.

Olivia Kim-McManus, MD, is a physician scientist and principal investigator funded by the National Institutes of Health/National Center for Translational Science and California Institute for Regenerative Medicine. Her research focuses on novel cutting-edge genetic therapies including the development and delivery of antisense oligonucleotides and gene therapies for rare epilepsies and neurodegenerative disorders. Dr. Kim-McManus is a triple Board-certified child neurologist with special qualification in child neurology, epilepsy, and clinical neurophysiology specializing in the care of infants, children, and adolescents with neurological disorders, particularly monogenetic etiologies associated with developmental and epileptic encephalopathy. She has expertise in discovery and delivery of novel targeted cell and gene-based therapies, clinical neurophysiology and epilepsy surgery, including invasive intracranial EEG monitoring and intraoperative electrocorticography. She has expertise as PI for personalized n=1 genetic therapies, allele selective ASO discovery, FDA IND holder, intrathecal ASO delivery for pediatric genetic disorders, with related publications in Nature Biotechnology and Nature Communications regarding diagnostic odysseys and n=1 trials. Dr. Kim-McManus serves as an Associate Professor in the UCSD Department of Neurosciences, Rady Neurology Section Vice Chief of Medical Staff Executive Committee, American College of Graduate Medical Education pediatric epilepsy fellowship director. She established and directs the Rady Precision Therapeutics Neuro-Interventional Program for rare disease therapies. Dr. Kim-McManus completed her undergraduate degree in Neurosciences at Columbia University in NYC, medical degree at The George Washington University School of Medicine/Children's National Medical Center in Washington DC, residencies in pediatrics and neurology at Children’s Hospital Los Angeles, and fellowships in epilepsy and clinical neurophysiology at UC Irvine. She serves on numerous Advisory Boards and research committees including CureNDD, Combined Brain, Illumina, N=1 Collaborative SAB, Praxis Precision Medicines, Stoke Therapeutics, Biomarin, UCB Pharmaceuticals, Care & Cure Institute, American Epilepsy Society Translational Research Committee, Child Neurology Society Research Committee, Pediatric Epilepsy Research Consortium Research Committee.

Dr Rebecca Reimers is clinically trained in maternal-fetal medicine and clinical genetics at Brigham and Women's and Boston Children's Hospitals following an obstetrics and gynecology residency in the Harvard system. She currently practices pediatric genetics, perinatology, and leads two clinical trials; one in genome sequencing for newborn screening (BeginNGS) and the other in genome sequencing for prenatally diagnosed congenital heart disease. Her research is through Rady Children's Institute for Genomic Medicine and she is an assistant professor at both Scripps Research Translational Institute and the University of California, San Diego. Dr Reimers has skills in clinical assessment of pediatric and prenatal patients with anomalies or genetic disorders, fetal ultrasound, and care of medically and surgically complex pregnancies. She has worked as a clinical lab technician at Cedars-Sinai Medical Center Cytogenetics lab and has a Master in Public Health degree with a focus in Epidemiology focusing on expanded newborn screening in Louisiana. Through prior research with the Undiagnosed Diseases Network (UDN), she has skills in sequence variant interpretation and the bioinformatics of genomic sequencing. She has experience with retrospective and prospective projects in the prenatal and pediatric genomics space including enrolling patients and she is on the Board of the International Society of Prenatal Diagnosis and active in the Society for Maternal Fetal Medicine. Dr Reimers' long-term goal as a researcher is to improve equitable counseling and care for families with pediatric genetic disorders or fetal anomalies through rapid genetic diagnosis. Bibliography: https://www.ncbi.nlm.nih.gov/myncbi/1v7jxcKUTahErg/bibliography/public/

Hudson H. Freeze, PhD, is a Professor of Glycobiology and Director of the Sanford Children’s Health Research Center at Sanford Burnham Prebys Medical Discovery Institute (SBP) in La Jolla, CA, USA. He has worked on rare diseases for over 46 years, the last 30 focused on defining, validating, and understanding mechanisms of multiple Congenital Disorders of Glycosylation (CDG) that now number over 200. He collaborates closely with physicians, families and their support organizations. He’s published over 350 scientific articles, the first describing the extreme thermophile, Thermus aquaticus (Taq), for which he won the 2013 Golden Goose Award from the American Academy for the Advancement of Science (AAAS)where he is also a Fellow.

Jonathan Sebat is a leader in the field of psychiatric genetics and an expert in the genomic characterization of autism, schizophrenia and related mental health conditions by Whole Genome Sequencing (WGS). His research has made substantial contributions to our current knowledge of genome-wide patterns of germline mutation and the contribution of rare and de novo genetic variants to neuropsychiatric disorders including, autism, schizophrenia and mood disorders. His early research led to the initial discovery of the widespread abundance of SV in the human genome. Application of SV detection methods to autism spectrum disorders and schizophrenia has served to elucidate the role of rare variants and de novo mutations in these conditions. Genome-wide analysis of rare and de novo mutations in trio families has since become the predominant approach for mapping autism genes, and the field has now implicated >250 genes. Sebat is also the Director of The Verge Center at UCSD. which brings together a broad team of data scientists, neuroscientists and clinicians. The goal of the Verge Center is to apply molecular and cell-based assays of autism genes and human brain organoids at scale and to use data science approaches to integrate neural phenotypes with patient clinical phenotypes.

Dr. Landstrom is a physician scientist and Professor of Pediatrics at the Children’s Hospital of Philadelphia and the University of Pennsylvania. He specializes in the care of children and families with heritable heart conditions, with particular focus on inherited arrhythmia syndromes and sudden cardiac arrest. His research centers on defining the molecular and genetic mechanisms that drive heritable arrhythmias and cardiomyopathies, with the goal of developing precision and gene based therapies to prevent disease progression and sudden death. His research interests extend to the bedside through the application of genomic prediction modeling to anticipate the development of cardiac arrhythmias, cardiomyopathies, and heart failure, enabling earlier intervention and risk modification through gene and precision therapies. The overarching goal of his work is to identify and treat life threatening cardiac disease before it manifests clinically. In this capacity, he serves as Director of Translational Research for the CHOP Cardiovascular Research Institute, where he helps to translate basic science discovery to clinical application, accelerating the development of transformative therapies for children with inherited heart disease.

Dr. Sanford Kobayashi received her MD from UCSF in 2011. She completed a pediatrics residency followed by a pediatric critical care fellowship at UCSD/Rady Children's Hospital. She has been at RCIGM since 2017 and during that time has helped to pioneer the use of rapid genomic sequencing in the Pediatric ICU, publishing the first single-center and then multi-center studies of rGS in the PICU in the United States.

Dr. Kristen Wigby is an Associate Professor of Pediatrics at the University of California, San Diego (UCSD) and the Associate Medical Director of the Rady Children's Institute for Genomic Medicine (RCIGM). She joined RCIGM during her fellowship where she learned genome analysis and then transitioned to become a Clinician Investigator in July 2018. In this role she served as an investigator or co-investigator on studies of applications of short read genome sequencing in multiple pediatric care settings including critically ill children and neonates, medically complex children undergoing a diagnostic odyssey, and underserved populations with suspected Mendelian disorders. She co-founded and serves as co-director of the Precision Medicine Program at Rady Children's Hospital which is a clinical-translation program for patients with undiagnosed or ultra-rare neurological disorders. In her clinical practice as a geneticist and dysmorphologist Dr. Wigby care for children with rare or undiagnosed disorders including inpatient consultation, outpatient Genetics & Dysmorphology Clinic, and as a member of multi-disciplinary teams including the Cleft & Craniofacial Teams, Smith-Magenis Syndrome Clinic, Turner Syndrome Clinic. Dr. Wigby completed her clinical fellowship in Medical Genetics & Genomics at the UCSD and her pediatrics residency at the University of Colorado Denver and the Children's Hospital Colorado. She has been recognized with awards for research and service throughout her training and was selected to the National Center for Academic Medical program at UCSD in 2021. Dr. Wigby was the Children's Miracle Network Endowed Chair in Pediatric Genetics at UC Davis from 2023-2024. She her goal is to apply deep phenotyping, genomic technologies, translational studies and research collaborations to advance genomic medicine at Rady Children's Health and UCSD one child at a time.

Jerica Lenberg is Lead Genetic Counselor at Rady Children’s Institute for Genomic Medicine in San Diego, California. Jerica provides genetic counseling and clinician support for inpatients at Rady Children’s Hospital undergoing rapid whole genome sequencing. In addition, Jerica coordinates the RCHSD Precision Medicine Clinic, conducts clinical genome analysis at the RCIGM Clinical Genome Center, supports development and implementation of research studies, and serves as adjunct faculty at Augustana University and Keck Graduate Institute.