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Elizabeth Engle’s research on congenital cranial dysinnervation disorders (CCDDs) has brought to light details of the genetics and fundamental mechanisms behind cranial nerve development and function. Engle and her team have used family cohorts and model organisms to investigate the expression of genes, wiring of neural circuits, and response of neurons to growth signals in the context of these disorders. Her current work to understand cranial axon guidance and connectivity may inform research on human cognitive disorders such as schizophrenia, autism, dyslexia, and depression.

Mary L. Marazita, PhD has been on the faculty of the University of Pittsburgh since 1993, currently serving as the Director of the Center for Craniofacial and Dental Genetics, Professor and Vice Chair of the Department of Oral Biology in the School of Dental Medicine. She has secondary appointments as a Professor in the Department of Human Genetics (Graduate School of Public Health), the Clinical and Translational Science Institute and the Department of Psychiatry (School of Medicine). Dr. Marazita has served in other administrative roles within the School of Dental Medicine in the past including: Director of the Cleft Palate-Craniofacial Center, Associate Dean for Research, and Chair of the Department of Oral Biology.

Dr. Marazita received her Ph.D. in Genetics from the University of North Carolina, Chapel Hill, in 1980, followed by post-doctoral training in Craniofacial Biology at the University of Southern California from 1980-1982. She is a diplomate of the American Board of Medical Genetics, and a Founding Fellow of the American College of Medical Genetics. Her first faculty appointment was in the UCLA Departments of Biostatistics and Biomathematics (1983-1986), followed by the Medical College of Virginia Department of Human Genetics (1986-1993). While at the Medical College of Virginia, she had a joint appointment in Dentistry and inaugurated a course in Dental Genetics for the dental school curriculum. She also established the state of Virginia’s Birth Defects Registry (VaCARES), served for 5 years as Director of the FaceBase Consortium Hub (an online repository of data related to craniofacial genetics).

Over the years she has served on a wide variety of NIH advisory groups, including current service as a member of the National Advisory Dental and Craniofacial Research Council, co-chair, PhenX Steering Committee of the National Human Genome Research Institute, and NIDCR appointed member of the Big Data to Knowledge (BD2K) Steering Committee. She has also received a number of awards, including the Walter J Gies Award for Best Paper Published in the Journal of Dental Research, and the University of Pittsburgh Chancellor’s Distinguished Researcher Award (Senior Scholar).

Currently, Dr. Marazita’s research focuses on the human genetics of complex traits, primarily facial birth defects (primarily cleft lip, cleft palate and other craniofacial anomalies), and oral disease (such as caries, malocclusion, and periodontal disease). She has more than 290 peer-reviewed publications, and substantial grant support totaling about $6 million annually, mostly from NIDCR. Her studies have led to collaborations with colleagues across the USA, and in more than 15 other countries, representing all continents except Antarctica.

Dr. Kenan Onel is an expert in cancer genetics and cancer biology. His research is aimed at identifying and studying functionally the genetic basis of cancer susceptibility by identifying genes and genetic markers that alter cancer risk in both inherited and sporadic cancers. His work is largely directed towards developing studies minimizing inter-individual heterogeneity in order to improve the detection of genetic risk variants with large effects and gene x exposure interactions. By understanding the genetic contribution to cancer in the context of exposures, he is then able to perform hypothesis-driven laboratory studies to investigate the role of these variants.

Dr. Schiffman received his medical degree from Brown University School of Medicine, completed his Pediatric Residency, Pediatric Chief Residency, and Pediatric Hematology/Oncology Fellowship at Stanford University. He has been an investigator at the Huntsman Cancer Institute since 2008, and a faculty member at the University of Utah since 2009. Dr. Schiffman is board-certified in Pediatrics and Pediatric Hematology-Oncology.

He is currently a Professor of Pediatrics at the University of Utah, an Adjunct Professor in the Department of Oncological Sciences, and is in the Division of Hematology/Oncology at Primary Children´s Medical Center. He serves as the Medical Director of the High Risk Pediatric Cancer Clinic at Huntsman Cancer Institute where he cares for children and families with inherited risk for cancer. His specific clinical interests are cancer susceptibility in families, with a focus on the genomic changes necessary for cancer development.

Dr. Schiffman’s work in the High Risk Pediatric Cancer Clinic contributed to a landmark study in the field of clinical cancer genetics demonstrating that early cancer surveillance in families with Li-Fraumeni Syndrome significantly improves overall survival. He continues to work with children and families at high risk for cancer development to discover genes that may be targeted for both prevention and treatment of childhood cancer. Dr. Schiffman is also the Education Director for the Program in Personalized Health Care at the University of Utah, where he oversees the teaching of personalized medicine to physicians and their patients.

Dr. Christine Seidman, also known as Kricket, MD co-founded MyoKardia, Inc. in 2012. Dr. Seidman is a professor at genetics and the Thomas W. Smith Professor of Medicine at Harvard Medical School and Brigham and Women’s Hospital. She is also an investigator of the Howard Hughes Medical Institute. She joined the staff at Brigham and Women’s Hospital in 1987 and director of the Cardiovascula. In addition to recognition received jointly with her husband, Dr. Seidman’s recent honors include Distinguished Scientist, American Heart Association; Distinguished Alumni Achievement Award, The George Washington University; The 21st Annual Glorney-Raisbeck Award; and the Jay and Jean Schottenstein Prize in Cardiovascular Science. She is a member of the Association of University Cardiologists and an elected member to the National Academy of Sciences. Dr. Seidman served as an intern and resident in internal medicine at John Hopkins Hospital and received subspecialty training in cardiology at the Massachusetts General Hospital. Dr. Seidman received her undergraduate degree at Harvard College and received an M.D. from George Washington University School of Medicine.

Eric Vilain, M.D., Ph.D. is an Adjunct Professor of Human Genetics, Pediatrics and Urology at UCLA, and the Institute for Society and Genetics. He is also Chief of Medical Genetics, and an attending physician in the Department of Pediatrics.

His laboratory explores the genetics of sexual development and sex differences, focusing on the molecular mechanisms of gonad development, as well as on the genetic determinants of brain sexual differentiation. An internationally renowned expert in the field of gender-based biology, he has identified a large number of mutations in sex-determining genes, developed animal models with atypical sexual development, and identified novel mechanisms of sex differences in the brain.

He currently works at several basic biological projects: the genetics of Disorders of Sex Development (intersexuality), the genetics of sexual orientation and gender identity, and the biological bases of sex differences in susceptibility to diseases, particularly for Parkinson’s disease and hypertension. He has also started a reflection and applied research on the social consequences of genetic research, at the level of the clinical context (do genetic data improve clinical outcomes, modify patient-physician relationship, and present risks to the patient?), and at the societal level (is genetic information on specific minorities helpful or harmful? Should genetic information influence public policy?).

His research program has been continuously supported by several grants from the NIH, and he has published extensively in the field of sexual development. He is a Fellow of the American College of Medical Genetics, and a member of numerous professional committees, including those related to the care of intersex individuals. In addition, Dr. Vilain has developed a clinic devoted to the care of patients with a variety of genetic and endocrine issues, with a particular emphasis on variations of sexual development. He has received numerous awards, notably from the NIH, the March of Dimes, the Doris Duke Charitable Foundation, and the Society for Pediatric Research.

John M. Maris, MD, is Giulio D’Angio chair in neuroblastoma research and professor of pediatrics in the Perelman School of Medicine at the University of Pennsylvania in Philadelphia. He currently serves as director of the Center for Childhood Cancer Research at the Children’s Hospital of Philadelphia. Maris completed his medical degree at the University of Pennsylvania, and performed all of his postdoctoral training in pediatric hematology/oncology and genetics at the University of Pennsylvania and the Children’s Hospital of Philadelphia.

Maris’ group has discovered the majority of the genes that influence susceptibility to human neuroblastoma using both traditional family-based linkage approaches and genome wide-association approaches. In parallel, his group has identified many of the oncogenic drivers of the disease. Together, this work has resulted in the implementation of new genomic biomarkers of outcome that are now routinely used in the clinic, and several early-phase clinical trials of new targeted therapeutics. Maris has led large collaborative research efforts focused on translational oncology, most recently a genomic dissection of more than 300 high-risk neuroblastoma cases using next-generation sequencing technologies, resulting in an unprecedented detailed characterization of the hereditary and somatic neuroblastoma genomes.

Maris has published more than 220 peer-reviewed manuscripts and dozens of book chapters and review articles. He is recognized as a leading expert in the field of pediatric oncology and serves on several scientific advisory boards and committees, including for the National Cancer Institute, the American Association for Cancer Research, Genome Canada and many private foundations. Maris has received several prestigious awards, including election into the American Society of Clinical Investigation, the Oski award for outstanding pediatric oncologists, the Berwick award at the University of Pennsylvania for melding basic and clinical teaching, and the William Osler Patient-Oriented Research Award at the University of Pennsylvania.

Dr. Mullighan is a member of the Department of Pathology and Co-Leader of the Hematological Malignancies Program at St. Jude Children’s Research Hospital. He received his training in medicine, hematology and hematopathology in Adelaide, Australia, and undertook doctoral studies in Immunogenetics at the University of Oxford. His research examines the genetic determinants of leukemogenesis and treatment response in acute lymphoblastic leukemia and related disorders. His work has identified multiple new subtypes of ALL, and has identified several genetic alterations that have entered the clinic as new diagnostic and therapeutic targets. His work has been published in over 200 peer-reviewed publications, including Nature, Nature Genetics, Science and the New England Journal of Medicine.

The overall goal of my laboratory is to understand the genetic basis of inherited susceptibility to cancer. At a basic level, we are interested in studying genes that normally control genomic stability and when disrupted lead to the instability seen in cancer cells including chromosome losses and gains or aneuploidy. Disruption of these control mechanisms have been found in a large percentage of human tumors and in individuals with a predisposition to specific cancers.

Dr. Jonathan Rios earned his Bachelor of Science degree from Tarleton State University and his doctorate degree in Genetics from Texas A&M University in College Station. He completed a postdoctoral fellowship at UT Southwestern Medical Center. Dr. Rios joined the division of molecular genetics in 2011, is assistant professor in pediatrics, and holds secondary appointments in the McDermott Center for Human Growth and Development and department of orthopaedic surgery at UT Southwestern Medical Center. Dr. Rios’ research includes the discovery of genes causing pediatric musculoskeletal and developmental conditions. He is a member of the Pediatric Orthopaedic Society of North America and the Texas Genetics Society, where he serves as a board member.

Jun is a Clinical Molecular Geneticist certified by the American Board of Medical Genetics and Genomics. She received her B.A. in Biochemistry and Molecular Biology / Computer Science from Dartmouth College in 1998 and a Ph.D. in Neurobiology (genetics) from Harvard University in 2005. She joined the Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School as an Instructor in 2013 and was promoted to the rank of Assistant Professor in 2016.

Her research is focused on identifying the genetic etiology of hearing loss and developing innovative approaches to diagnosis, prevention and treatment of the condition. Her Ph.D. research with Dr. Christopher A. Walsh at Harvard Medical School involved identifying genes for hereditary neurological disorders using modern genome-wide analysis tools, and her postdoctoral research with Dr. David P. Corey at Harvard Medical School focused on genome-wide analyses of cell-type-specific gene expression in the inner ear.

Jun serves as the Assistant Laboratory Director of the Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine. She is the creator/co-creator (?) and Administrator of the publicly-accessible Shared Harvard Inner Ear Laboratory Database (SHIELD), where she applies her bioinformatics skills to facilitate variant interpretation and gene discovery for hearing loss. She participates as an international collaborator in the Hearing and Sight Domain of the Genomics England Clinical Interpretation Partnership (GeCIP) and is a member of the ClinGen Expert Panel for Hearing Loss

Dr. Butali joined the College of Dentistry in 2013 after completing his postdoctoral fellowship in craniofacial genetics at the University of Iowa. Dr. Butali directs the African Craniofacial Anomalies Network, a collaboration between scientists in Ghana, Ethiopia, Kenya, Nigeria, and Rwanda. His research, “Genetic Studies of Non-syndromic Clefts in Populations of African Descent,” is currently funded through a K99/R00 award from the National Institute for Dental and Craniofacial Research. His studies use a variety of techniques and approaches, including next generation sequencing approaches. He is also involved in the investigation of subclinical phenotypes for orofacial clefts as well as examining the role of micronutrients in oral clefts prevention. Other interests include genetics of aggressive periodontitis and genetics of preterm births in the African population. He is currently collaborating with researchers in Nigeria, Ghana, Ethiopia, South Africa, Rwanda, Kenya, Dundee (Scotland), Seattle (WA), Pittsburgh (PA), and Puerto Rico.

Daniela V Luquetti, MD, PhD, is an assistant professor in the Department of Pediatrics at the University of Washington School of Medicine. She completed her medical geneticist training in 2005 and her PhD in Public Health in 2009. Dr. Luquetti’s research focuses on the genetic and non-genetic risk factors of craniofacial conditions. Dr. Luquetti has a broad background in medical genetics and epidemiology, with specific training and experience in birth defects. As a doctorate student, she conducted birth defects surveillance research and data analysis on epidemiological aspects of birth defects. In her postdoctoral fellowship in the Division of Craniofacial Medicine at the University of Washington, she expanded her research to include the assessment of genetic sequence variation as well as other potential genetic causes of birth defects. She is currently studying genetic and non-genetic risk factors for microtia (underdevelopment of the external ear) and craniofacial microsomia. Carrie L Heike, MD, MS is an associate professor Department of Pediatrics at the University of Washington School of Medicine. She serves as a pediatrician for children with craniofacial conditions at the Seattle Children’s Craniofacial Center, and conducts research in outcomes of craniofacial care. Drs. Luquetti and Heike have partnered for nearly 10 years to further research in microtia and craniofacial microsomia.

Dr. Simeon Boyadjiev Boyd is a pediatrician and board certified clinical geneticist with extensive experience as a clinical and molecular dysmorphologist. He currently holds an appointment as a tenured Professor in the Section of Genetics, Department of Pediatrics at the University of California, Davis. Between 2006 and 2011 he served as a founding chief of the Section of Genetics at UC Davis and was the first holder of the Children’s Miracle Network Endowed Chair in pediatric genetics. Dr. Boyd served as Vice president and President-elect of the Society of Craniofacial Genetics from 2000 to 2004. In 2012 he helped organize and is the current geneticist of a multidisciplinary “Plagiocephaly Clinic” at UC Davis with involvement of neuro-surgeons, neuro-radiologists, plastic and ENT surgeons, and child psychologists. This clinic provides one stop comprehensive evaluations for children with craniosynostosis and related skull defects from Northern and Central California.Since 1998 Dr. Boyd has been continuously funded by grants through NIDCR-NIH. With these resources he initiated the International Craniosynostosis Consortium (ICC), a group of scientists and clinicians with special expertise in the field of craniosynostosis. ICC currently coordinates the work of more than 10 sites in US and 6 international sites https://myhs.ucdmc.ucdavis.edu/web/dr.-boyd-s-lab/home and has recruited more than 1,500 affected families. Dr. Boyd’s group performed the first Genome-Wide Association Study (GWAS) of 130 families with non-syndromic sagittal craniosynostosis and identified BMP2 and BBS9 as genes involved in the causation for this birth defect. Recently, a similar GWAS study of 400 families with non-syndromic metopic craniosynostosis was completed and several other strong candidate genes were detected and are being currently evaluated. Dr. Boyd’s experience in the area of craniosynostosis and other birth defects, genetic syndromes and disorders is documented by more than 60 peer-reviewed publications available for review at https://www.ncbi.nlm.nih.gov/pubmed/?term=boyadjiev+sa.

Dr. Siegel has a particular interest in general pediatric dermatology and skin health in infants, children and adolescents. Dr. Siegel focuses on improving the quality of life of children and their families by treating the skin conditions such as acne, eczema and psoriasis.

Dr. Siegel is a founding member and scientific co-chairman for the Pediatric Dermatology Research Alliance (PeDRA) to promote and discover better treatments for the pediatric dermatology conditions through research. In addition to practice of common pediatric dermatology conditions, Dr. Siegel also has an expertise in genetic skin syndromes.

She is co‐director of the Neurofibromatosis and RASopathy clinic at Children’s Hospital of Wisconsin and she works on the Medical Advisory Committee for the Costello Syndrome Family Network. Through her research, Dr. Siegel has spent the last several years determining the features and cause of a hemangioma syndrome called “PHACE syndrome”. By studying these rare genetic diseases, Dr. Siegel hopes to gain a better understanding about the causes and treatments for common skin conditions in children.

Dr. Nara Lygia De Macena Sobreira is an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. Her area of expertise is clinical genetics.

She earned her M.D. at the University of Pernambuco in Brazil. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins.

Cynthia Casson Morton is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, and the Kenneth J. Ryan, M.D. Distinguished Chair in Obstetrics and Gynecology and Director of Cytogenetics at Brigham and Women’s Hospital. She received her Bachelor’s of Science degree from the College of William and Mary in Virginia and her Ph.D. in Human Genetics from the Medical College of Virginia in Richmond. She is certified by the American Board of Medical Genetics in Ph.D. Medical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. As a human geneticist, Dr. Morton is interested in studying the genetic causes of hearing loss, uterine fibroids and birth defects so that new understanding of the biology of the disorders may be gained and new treatments developed. She also is beginning a new study based at Brigham and Women’s Hospital and at the University of Manchester, UK called SEQaBOO (SEQuencing a Baby for an Optimal Outcome). These programs will integrate genomic sequencing into newborn screening for babies who fail their newborn hearing screening tests and evaluate the clinical utility of genomic testing in the care of babies born with heritable hearing loss.

Bio coming soon!

Eleanor Feingold received her Ph.D. in statistics from Stanford University. She has spent her career developing new computational methods for studying large genomic datasets to find genes that increase the risk for a number of different conditions. In Kids First, she is working on cleft lip and palate, but she has also worked on Alzheimer’s, Down syndrome, and heart defects. The goal of all of these studies is to understand the risk factors better so that families can make the best decisions for themselves and their children.

Carrie L Heike, MD, MS is an associate professor Department of Pediatrics at the University of Washington School of Medicine. She serves as a pediatrician for children with craniofacial conditions at the Seattle Children’s Craniofacial Center, and conducts research in outcomes of craniofacial care. Drs. Luquetti and Heike have partnered for nearly 10 years to further research in microtia and craniofacial microsomia.

Bio coming soon!

Hakon Hakonarson, M.D., Ph.D., is Director of the Center for Applied Genomics, Endowed Chair in Genomics Research and Professor of Pediatrics at The University of Pennsylvania, Perelman School of Medicine. Dr. Hakonarson received his MD and PhD from the University of Iceland, School of Medicine. He leads a major commitment from CHOP to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science. Dr. Hakonarson is a Principal Investigator within the Kids First Data Resource Center.

Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects as vice president of Clinical Sciences and Development at deCODE genetics, Inc. Dr. Hakonarson has been the principal investigator (PI) on several National Institute of Health-sponsored grants, and he was co-PI on the Neurodevelopmental Genomics: Trajectories of Complex Phenotypes, the largest project ever supported by the National Institute of Mental Health. Dr. Hakonarson recently completed a clinical biomarker study in ADHD demonstrating strong efficacy and safety of a neuromodulator compound in children with specific mutations in the glutamate metabotropic (mGluR) receptor family of genes with ADHD and Autism (www.ClinicalTrial.gov).

Dr. Hakonarson has published over 600 scientific papers, including numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Medicine, Nature Genetics, Cell and The New England Journal of Medicine. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year. With over 18 years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics and drug development projects, and he has put together the necessary infrastructure and workflow processes to unravel these complexities for optimized deliverables.