Although Bruce recently retired from Rady Children's Institute for Genomic Medicine where he worked to spread the use of diagnostic rWGS through partnerships and collaborations with other children's hospitals, he remains actively involved in related industry and patient advocacy ventures as well as serving on several boards in an advisory position. ...and he makes violins.

Stephen Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine which is implementing pediatric genomic medicine across North America. He is also the David F. Hale Chair at Rady Children’s Hospital, San Diego. Previously he was the Dee Lyons Chair in Genomic Medicine at the University of Missouri-Kansas City, President of the National Center for Genome Resources, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida. Dr.Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, received the 2013 Scripps Genomic Medicine award, 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology, and 2022 Precision Medicine World Conference Luminary Award. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. RCIGM has held two Guinness World Records for fastest time to genome-based diagnosis of genetic diseases. RCIGM is developing healthcare delivery solutions for rare genetic diseases of children involving artificial intelligence, cloud technology, telemedicine, and digital health. The initial applications are Rapid Precision Medicine – involving rapid genome based diagnosis in inpatient children – and BeginNGS – involving genome screening of infant populations to detect and treat rare genetic diseases at or before symptom onset.

Dr. Matthew Bainbridge has spent his career working in high-throughput sequencing.  In 2007 he developed novel algorithms for the analysis of short reads, and later began to use this data to help diagnose critically ill children and discover new disease genes.  At Rady Children's institute of Genomic Medicine, he continues this work with a team of data scientists and bioinformaticians, to help the kids of San Diego county get better care through sequencing and using machine learning algorithms to identify those kids most in need of sequencing.

Louis Ehwerhemuepha, As the Director of Computational Research at CHOC Children’s, I lead a multidisciplinary team dedicated to advancing pediatric data science in alignment with CHOC’s mission to nurture, advance, and protect children’s health and well-being. My team of data scientists and analysts harnesses cutting-edge technologies, including machine learning, explainable AI, and advanced statistical methodologies, to address complex clinical and operational challenges. Together, we generate actionable insights and innovative solutions that drive improvements in patient care and hospital efficiency. In collaboration with clinicians, researchers, and administrators, I design and implement sophisticated, data-driven models within the electronic medical record (EMR) system. These models empower evidence-based decision-making, enhance patient outcomes, and elevate the overall quality of care provided at CHOC.

Ian M. Campbell, MD, PhD, is a clinical geneticist and informaticist at the Children’s Hospital of Philadelphia (CHOP) and Assistant Professor of Pediatrics at the University of Pennsylvania. Dr. Campbell leads a research team dedicated to developing and applying foundational large language models (LLMs) specifically tailored for healthcare, with a particular emphasis on rare pediatric genetic diseases. Dr. Campbell earned his MD and PhD in Molecular and Human Genetics from Baylor College of Medicine. Following his dual degrees, he completed residency training in General Pediatrics and Medical Genetics, as well as a fellowship in Clinical Informatics at CHOP. His research harnesses large-scale electronic health record (EHR) data to improve clinical outcomes for children. A cornerstone of his work involves training and refining large language models that possess comprehensive, individualized insights into pediatric patient populations.

Dr. Matthew Bainbridge has spent his career working in high-throughput sequencing.  In 2007 he developed novel algorithms for the analysis of short reads, and later began to use this data to help diagnose critically ill children and discover new disease genes.  At Rady Children's institute of Genomic Medicine, he continues this work with a team of data scientists and bioinformaticians, to help the kids of San Diego county get better care through sequencing and using machine learning algorithms to identify those kids most in need of sequencing.

Stephen Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine which is implementing pediatric genomic medicine across North America. He is also the David F. Hale Chair at Rady Children’s Hospital, San Diego. Previously he was the Dee Lyons Chair in Genomic Medicine at the University of Missouri-Kansas City, President of the National Center for Genome Resources, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida. Dr.Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, received the 2013 Scripps Genomic Medicine award, 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology, and 2022 Precision Medicine World Conference Luminary Award. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. RCIGM has held two Guinness World Records for fastest time to genome-based diagnosis of genetic diseases. RCIGM is developing healthcare delivery solutions for rare genetic diseases of children involving artificial intelligence, cloud technology, telemedicine, and digital health. The initial applications are Rapid Precision Medicine – involving rapid genome based diagnosis in inpatient children – and BeginNGS – involving genome screening of infant populations to detect and treat rare genetic diseases at or before symptom onset.

Ian M. Campbell, MD, PhD, is a clinical geneticist and informaticist at the Children’s Hospital of Philadelphia (CHOP) and Assistant Professor of Pediatrics at the University of Pennsylvania. Dr. Campbell leads a research team dedicated to developing and applying foundational large language models (LLMs) specifically tailored for healthcare, with a particular emphasis on rare pediatric genetic diseases. Dr. Campbell earned his MD and PhD in Molecular and Human Genetics from Baylor College of Medicine. Following his dual degrees, he completed residency training in General Pediatrics and Medical Genetics, as well as a fellowship in Clinical Informatics at CHOP. His research harnesses large-scale electronic health record (EHR) data to improve clinical outcomes for children. A cornerstone of his work involves training and refining large language models that possess comprehensive, individualized insights into pediatric patient populations.

Louis Ehwerhemuepha, As the Director of Computational Research at CHOC Children’s, I lead a multidisciplinary team dedicated to advancing pediatric data science in alignment with CHOC’s mission to nurture, advance, and protect children’s health and well-being. My team of data scientists and analysts harnesses cutting-edge technologies, including machine learning, explainable AI, and advanced statistical methodologies, to address complex clinical and operational challenges. Together, we generate actionable insights and innovative solutions that drive improvements in patient care and hospital efficiency. In collaboration with clinicians, researchers, and administrators, I design and implement sophisticated, data-driven models within the electronic medical record (EMR) system. These models empower evidence-based decision-making, enhance patient outcomes, and elevate the overall quality of care provided at CHOC.

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.

Dr. Seema Mital is a Staff Cardiologist & the Head of Cardiovascular Research at the Hospital for Sick Children (SickKids), Professor of Paediatrics at the University of Toronto, and a Senior Scientist at the SickKids Research Institute. She is also the Heart and Stroke Foundation of Canada Chair of Cardiovascular Science, and the Scientific Co-Lead of the Ted Rogers Centre for Heart Research. She leads the Cardiac Precision Medicine program at SickKids that leverages genomics, stem cells, AI and digital technology to model disease, test therapies, and implement precision-focused decision support tools. Dr. Mital established the SickKids Heart Centre Biobank, a multi-centre biorepository for childhood onset heart disease with over 10,000 participants. She leads the ERAPerMed/CIHR funded PROCEED network for Personalized Genomics in congenital heart disease, the multi-centre international Precision Medicine in Cardiomyopathy (PRIMaCY) network, the CIHR-funded multi-centre INSERT-HCM study, co-leads the CIHR-funded Precision Medicine for Heart Failure in the Young (PRIORITY) project of the Canadian Heart Function Alliance, and is a PI on two NIH grants. She is Academic Project Lead for the Genome Canada funded SickKids Precision Child Health Sequencing project that will sequence 10,000 childhood genomes.

Dr. Francesca Briganti is a molecular biologist interested in understanding the molecular causes of human diseases and using this knowledge to design targeted therapeutic strategies. She is an Assistant Professor in the Department of Pediatrics, with a joint appointment in Genetics and Cardiology. Her scientific interests include cardiac physiology, disease mechanisms, and drug development. Her work focuses on the development and application of high-content, high-throughput imaging screening strategies.

Dr. Matthew Williams is the director of Pediatric and Congenital Electrophysiology at Rady Children’s Hospital-San Diego and a clinical associate professor at UC San Diego School of Medicine.

 

Dr. Williams earned his Bachelor of Science in neuroscience at Brigham Young University and his medical degree at the University of Colorado School of Medicine. After completing a residency in pediatrics and a fellowship in pediatric cardiology at Rady Children's / UC San Diego, he completed a fellowship in pediatric and congenital electrophysiology at Boston Children's Hospital / Harvard Medical School.

 

Dr. Williams has clinical and research interests related to the diagnosis and management of cardiac rhythm disturbances from fetal to adult life, including non-invasive and invasive monitoring and diagnostic techniques, antiarrhythmic medications, catheter-based therapies for arrhythmias, heritable arrhythmia syndromes and advanced in genetic testing and detection, rhythm disturbances associated with congenital heart disease and pacemaker and ICD implantation and programming.

 

He is actively involved in mentoring and teaching medical students, residents and fellows in pediatric cardiology, including basic principles of rhythm diagnosis and ECG reading.

 

Outside of medicine, Dr. Williams enjoys spending time with his family, good books, music, hiking, skiing and the beach.

Dr. Paul Grossfeld is a board-certified pediatric cardiologist and Clinical Professor of Pediatrics at the University of California, San Diego. Dr. Grossfeld takes care of patients with congenital heart disease at Rady Children’s Hospital in San Diego. He saw his first patient with Jacobsen syndrome in 1995, and since that time has assembled a multidisciplinary group of investigators studying the genetic basis of congenital heart defects in Jacobsen syndrome. Dr. Grossfeld serves as the Chief Medical Advisor for the US, Spain and European Jacobsen syndrome support groups. He has reached out to colleagues both locally in San Diego and from around the world to bring together a team of clinical experts to help with the various aspects of care for individuals with Jacobsen syndrome. He has co-authored over 20 peer-reviewed scientific papers on Jacobsen syndrome. He lives in San Diego with his wife Susan and their 18-year-old son Stefan. In his spare time, Dr. Grossfeld loves to travel internationally, play a variety of sports, and swim/snorkel in nearby La Jolla cove in the summer.

Linzee Carroll is a mother to four beautiful children, two of which have a rare syndrome called Jacobsen Syndrome. Linzee is a full time caregiver to her two adult sons with Jacobsen Syndrome as well as her two teenage daughters. Linzee has served as the president of the 11q Research and Resource Group for over 20 years. The 11q Research and Resource Group is an organization that focuses on education and advocacy for chromosome 11q disorders, including Jacobsen Syndrome. Her responsibilities with the 11q Research and Resource Group include providing up to date and accurate information to families and individuals with 11q disorders, planning family educational conferences, helping to connect families and individuals with 11q diagnoses, and helping to raise funds for research. In her spare time, she enjoys pottery, hiking, and cooking.

Stephen Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine which is implementing pediatric genomic medicine across North America. He is also the David F. Hale Chair at Rady Children’s Hospital, San Diego. Previously he was the Dee Lyons Chair in Genomic Medicine at the University of Missouri-Kansas City, President of the National Center for Genome Resources, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida. Dr.Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, received the 2013 Scripps Genomic Medicine award, 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology, and 2022 Precision Medicine World Conference Luminary Award. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. RCIGM has held two Guinness World Records for fastest time to genome-based diagnosis of genetic diseases. RCIGM is developing healthcare delivery solutions for rare genetic diseases of children involving artificial intelligence, cloud technology, telemedicine, and digital health. The initial applications are Rapid Precision Medicine – involving rapid genome based diagnosis in inpatient children – and BeginNGS – involving genome screening of infant populations to detect and treat rare genetic diseases at or before symptom onset.

Although Bruce recently retired from Rady Children's Institute for Genomic Medicine where he worked to spread the use of diagnostic rWGS through partnerships and collaborations with other children's hospitals, he remains actively involved in related industry and patient advocacy ventures as well as serving on several boards in an advisory position. ...and he makes violins.

Dr. Daphna Marom graduated from the Faculty of Medicine at The Hebrew University of Jerusalem in Israel. She completed with honors her residency in Pediatrics from Schneider Children’s Medical Center and completed her Medical Genetics residency from Rabin Medical Center, Beilinson Campus.

Marom is a pediatrician and clinical geneticist, whose main clinical aim is on implementing and developing multidisciplinary genetic clinics, to address the ever growing need of rapid comprehensive genetic testing in routine clinical practice, both for diagnostic and precision medicine purposes. She recently founded a new Telomere Biology Disorders clinic that was acclaimed as a center of excellence by the Team Telomere. Marom was a leading team member in the design, implementation and continuation of the Baby Bambi pilot study, the new Bambi4Kids pilot, and is a strong believer in the role of genomic testing in acute care settings.   

Marom is a strong driver of application and assimilation of modalities such as telemedicine and digital platforms for the delivery of pediatric genetic care. Her research interests span the detection and characterization of rare diseases and phenotypes from various medical disciplines, collaborating with top experts both in Israel and worldwide. 

 

Additional research is directed at repurposing medications for read-through of premature terminations codons (PTCs), to a larger cohort of patients with nonsense mutations, independent of the gene or disorder. For this purpose, we established a phenotype-based registry for patients with PTC mutations. In the future, we aim to recruit a large cohort of patients with similar symptoms, each with their own culprit gene and genotype, and to tailor a research protocol to study outcomes under PTC read-through therapy with repurposing available medications.

Dr. Rebecca 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/

Luke Rosen is the father of a child with KIF1A Associated Neurological Disorder (KAND) who is currently treated with a genetic-based experimental therapy. He is the Founder of KIF1A.ORG, a nonprofit organization with the mission to support multiple translational research initiatives for neurodegenerative diseases like KAND. Luke is also the Founder of Rescue 7 Firefighters for Patients (www.Rescue7.org). Luke serves on multiple boards or rare disease organizations and is an advocate for patients and families affected by rare genetic diseases and cancer. He is a New York firefighter and resides in Long Island, New York. 

Dr. Whitney Thompson is an Assistant Professor of Pediatrics and Medical Genetics, and she is currently a dual clinical fellow in Neonatal-Perinatal Medicine and Medical Genetics at Mayo Clinic in Rochester, MN. She holds positions in Mayo Clinics. Clinician Investigator Training Program through the Mayo Center for Individualized Medicine, as well as the Biomedical Ethics Scholars Training Program. Prior to medical school, Dr. Thompson completed an M.Phil degree in Medical Genetics at the University of Cambridge. Her clinical and research interests lie at the intersection of genomics, ethics, and neonatal intensive care.

Laura Lambert Ph.D. is an Associate Consultant I in Physiology and Biomedical Engineering with joint appointments in Clinical Genomics and Biochemistry and Molecular Biology. Dr. Lambert is Director of the Mayo Clinic Functional Omics Resource, a laboratory which designs and executes functional genomic studies across the institution, and co-investigator of the Minnesota Functional Omics Resource. She has extensive experience in the development of precision cell and animal models for the study of rare genetic diseases from her previous roles as Director of the UAB Transgenic and Genetically Engineered Model Systems Core, Co-Lead of the Disease Modeling Unit in the UAB Center for Precision Animal Modeling, and Director of Models and Therapeutics in the UAB Precision Medicine Institute. This includes the application of these models to determine both pathogenicity of genetic changes as well as the investigation of novel therapeutic strategies for addressing patient needs in these ultra-rare conditions. Her research focuses on the use of gene therapy and other n=1 therapeutic approaches (e.g., exon skipping, ribozymes, CRISPRa/CRISPRi, prime editing, base editing) for rare genetic conditions, with a focus on nanoparticle-based delivery platforms. Her research has been funded by multiple NIH grants as well as many foundation-based grants examining personalized medicine approaches, including her current work in n=1 nanoparticle mRNA delivery for the Wolverine Foundation in conjunction with Moderna. 

Dr. Timothy Yu is a physician-scientist in the Division of Genetics & Genomics at Boston Children's Hospital and Harvard Medical School. He leads a research group that works at the intersection of genomics, informatics, and neurobiology to better understand, diagnose, and treat rare neurologic disease. An early pioneer in the application of next generation sequencing to human disease gene discovery, Dr. Yu and his group have in recent years turned to creating new models for delivering translational genomic medicine, including accelerating diagnosis with genomic sequencing in newborns, and pioneering disruptive approaches to precision genomic medicine. In 2018 he led the development of a patient-customized antisense oligonucleotide to treat a young girl with CLN7 Batten disease, creating a precedent that served as the basis for the first FDA guidance for individualized genomic medicine. His laboratory has since launched a series of individualized genetic interventions for several additional orphan diseases. He continues to works closely with patients, foundations, physicians, and regulators to explore and fortify this pathway, He is founder of the N=1 Collaborative, an independent nonprofit devoted to developing practices for individualized medicine.

Dr. Olivia Kim-McManus is a physician scientist and principal investigator at Rady Children's Institute for Genomic Medicine and UCSD Associate Professor of Neurosciences, with specialization in pediatric neurology, epilepsy, and clinical neurophysiology. She established and directs the Rady Precision Therapeutics Neuro-Interventional Program for Batten's Disease (CLN2) a rare neurodegenerative disorder in children, delivering targeted therapy by Ommaya reservoir. Her research focuses on the development and delivery of targeted precision therapeutics for rare genetic diseases in pediatric neurology including antisense oligonucleotide therapies (ASO) for SCN2A developmental epileptic encephalopathy, TUBB4A leukodystrophy and other rare causal variants presenting with neurologic symptoms such as seizures, autism, and developmental delay/regression in infants and children. Her expertise includes regulatory experience as IND holder and PI for n=1 clinical trial delivery of personalized ASO for SCN2A and seeks to expand access of such genetic therapies from n=1 to n=more, in collaboration with partner organizations including n-Lorem Foundation, n=1 Collaborative, California Institute for Regenerative Medicine, and numerous family advocacy groups. She is on numerous research/review committees and advisory boards and serves on N1C Outcomes, Institutional Implementation WG, Epilepsy Foundation SD Professional Advisory Board, UCSD Altman Clinical and Translational Research Institute Scientific Review Board, ACTRI PI Advisory committee, American Academy of Neurology Neurogenetics Special Interest Group, Child Neurology Society Research Committee.  

Dr. Raymond Wang, M.D., is a distinguished clinical geneticist and biochemical genetics specialist based at CHOC Children’s Hospital in Orange, CA. As the Director of the Foundation of Caring Lysosomal Storage Disorder Program, Dr. Wang oversees a multidisciplinary team dedicated to the comprehensive care and advancement of treatments for patients with rare lysosomal storage disorders. Dr. Wang is aware of the challenges faced by patients and families with rare diseases such as lysosomal storage disorders.

 

His expertise in genetic disorders and commitment to translational research have significantly contributed to the development of innovative therapies, including investigational treatments for conditions without current effective options. Dr. Wang’s dedication extends beyond treatment to include spearheading research initiatives aimed at discovering next-generation cures and improving the quality of life for his patients.

 

His clinical interests encompass a wide range of genetic disorders, with a particular focus on mucopolysaccharidosis, Pompe disease, and neuronal ceroid lipofuscinosis, among others.

Dr. Erica Sanford Kobayashi completed her undergraduate work at UCSD, followed by medical school at UCSF, then returned to UCSD/Rady Children's for pediatric residency and pediatric critical care fellowship. She joined RCIGM as a fellow and published the first US-based study of rapid whole genome sequencing in the PICU during that time, followed by the first US-based cost effectiveness analysis of rwgs in the PICU. Presently, she is an Assistant Professor at University of California, Irvine and a Pediatric Intensivist at Children's Hospital Orange County, while continuing to examine rwgs/urwgs in the PICU through her clinical research role at RCIGM.

Dr. Jason Knight is board certified in pediatric critical care. Dr. Knight serves as the Medical Director of the PICU at CHOC Children’s. Dr. Knight is an assistant clinical professor at UC Irvine. Dr. Knight received his medical degree from Eastern Virginia Medical School in Norfolk, Virginia. Dr. Knight completed his residency training, including a year as chief resident, at Harbor-UCLA Medical Center. His fellowship training in critical care medicine was completed at Harbor-UCLA Medical Center and Children’s Hospital of Orange County. Dr. Knight has special interest in pediatric transport, telemedicine, and rapid whole genome sequencing for critically ill infants and children.

Stephen Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine which is implementing pediatric genomic medicine across North America. He is also the David F. Hale Chair at Rady Children’s Hospital, San Diego. Previously he was the Dee Lyons Chair in Genomic Medicine at the University of Missouri-Kansas City, President of the National Center for Genome Resources, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida. Dr.Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, received the 2013 Scripps Genomic Medicine award, 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology, and 2022 Precision Medicine World Conference Luminary Award. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. RCIGM has held two Guinness World Records for fastest time to genome-based diagnosis of genetic diseases. RCIGM is developing healthcare delivery solutions for rare genetic diseases of children involving artificial intelligence, cloud technology, telemedicine, and digital health. The initial applications are Rapid Precision Medicine – involving rapid genome based diagnosis in inpatient children – and BeginNGS – involving genome screening of infant populations to detect and treat rare genetic diseases at or before symptom onset.