Building AI-based Phenotyping Technologies

Imagine a world where every person’s genome serves as their medical record to guide health decisions. We’re well on our way—genomic analysis is becoming the clinical standard in diagnostic evaluations, and artificial intelligence is the cornerstone of technologies that enable it.

Used by 70% of the world’s geneticists across 2,000 clinical sites in over 130 countries, FDNA’s next-generation phenotyping (NGP) technologies capture, structure and analyze complex human physiological data to produce actionable genomic insights. FDNA’s database includes an unprecedented depth of phenotypic and genotypic information associated with more than 10,000 diseases, crowdsourced from real-world patient cases through our broad network of users. This de-identified data is collected and stored in a private and secure cloud-based clinical warehouse, and integrated to LIMS, EMR and variant interpretation systems through a set of open APIs.

While our roots stem from facial recognition, our future lies in the phenotype, and as a leader in AI we aim to always provide innovative, impactful solutions. Since its founding in 2011, FDNA continues to aid clinicians, researchers and genetic testing labs in finding answers and treatments for hundreds-of-millions of patients globally living with a genetic disease.


Scientific Advisory Board

  • Dr. Michael R. Hayden, CM, OBC, FRSC
    Teva Pharmaceutical Industries, Tel Aviv, Israel

    Dr. Hayden is the President of Global R&D and Chief Scientific Officer of Teva Pharmaceutical Industries and the Editor in Chief of the scientific journal – Clinical Genetics. His work in genetics and personalized medicine is internationally renowned, and he is one of the world’s leading experts in human genetics. Currently, he is Killam Professor of Medical Genetics at the University of British Columbia, and Canada Research Chair in Human Genetics and Molecular Medicine. He is also the founder and Director/Senior Scientist of the Centre for Molecular Medicine and Therapeutics at the University of British Columbia. Dr. Hayden was awarded the Canada Gairdner Wightman award, recognizing him as a physician-scientist who has demonstrated outstanding leadership in medicine and medical science; in 2010, he was awarded the Order of Canada, which is the highest honour that Canada can give its citizens for exceptional achievement, merit or service; in 2008 he was named Canada’s Health Researcher of the Year and in 1998 received the Distinguished Scientist Award of the Canadian Society of Clinical Investigation.

  • Dr. David A. Chitayat, MD, FABMG, FACMG, FCCMG, FRCPC
    SickKids Hospital, Toronto, Canada

    Dr. Chitayat is Professor of Paediatrics, Obstetrics and Gynecology, Laboratory Medicine, Pathobiology and Molecular Genetics and the Medical Director of MSc Program in Genetic Counseling at the University of Toronto. Dr. Chitayat is a fellow of the American Board of Medical Genetics, the Canadian College of Medical Genetics and The Royal College of Physicians and Surgeons of Canada. Dr. Chitayat heads the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital and is practicing Clinical and Metabolic Genetics in The Hospital for Sick Children.  His research interests include Cardiac Genetics, Molecular Genetics and Neurogenetics. Dr. Chitayat has published over 15 book chapters and over 300 peer reviewed papers in these fields. Dr. Chitayat has also been an invited visiting professor, and a keynote speaker at national and international universities and institutions.

  • Prof. Jill Clayton-Smith, MD, MB ChB, MRCP, FRCP
    St Mary's Hospital, Manchester, England

    Prof. Clayton-Smith is Consultant Clinical Geneticist at North Western Regional Genetic Service, Honorary Professor in Medical Genetics and Clinical Lead for Research at Saint Mary’s Division/Consultant Manchester Centre for Genomic Medicine at Central Manchester University Hospitals NHS Foundation Trust. Prof. Clayton-Smith is faculty member on several EU teaching courses, runs an annual Manchester Dysmorphology Training course and is the co-organizer of the Syndrome Identification workshops at the annual European Society of Human Genetics Meetings and the International Manchester Dysmorphology Conference. Prof. Clayton-Smith’s major research interests are in genetics of orofacial clefting, syndromic eye disease, Angelman syndrome and related neurodevelopmental disorders, as well as children born to mothers with epilepsy, with particular experience of Fetal Valproate Syndrome. Prof. Clayton-Smith is active in several lay groups including those for Angelman syndrome, Mowat-Wilson Syndrome and NOFAS, National Organisation for Fetal Alcohol Syndrome.

  • Dr. Cynthia J.R. Curry, MD
    Genetic Medicine Central California, Fresno, CA, USA

    Dr. Curry is Professor of Pediatrics at the University of California, San Francisco and the Medical Director of Genetic Medicine Central California in Fresno, California and on the adjunct clinical faculty at Stanford. She is board certified in Pediatrics and Clinical Genetics and has been practicing clinical genetics in Fresno for over 30 years. Dr. Curry has pursued research studies on thrombophilia, syndrome delineation in the fetus and newborn, and causes of intellectual disability and birth defects. She has held many national positions in both genetics and pediatrics and speaks nationally and internationally.

  • Prof. Dian Donnai, CBE, FMedSci, FRCP
    St Mary's Hospital, Manchester, England

    Prof. Donnai is Professor of Medical Genetics in the University of Manchester and Clinical Head of Saint Mary’s Division/Consultant Manchester Centre for Genomic Medicine at Central Manchester University Hospitals NHS Foundation Trust. Prof. Donnai was previously President of the European Society for Human Genetics and was Consultant Advisor in Genetics to the Chief Medical Officer for England, sat on the Government Genetics and Insurance Committee and was president of the Clinical Genetics Society. She was awarded the March of Dimes Lifetime Achievement Award in 2010 and the ESHG Education Award in 2011. She also sits on the Medical and Advisory Boards of a number of patient groups and is a strong advocate for patient involvement in service and research design. Prof. Donnai’s major research interests are in dysmorphology; elucidating the underlying mechanisms of developmental syndromes, and in public engagement in genetics and medicine.

  • Dr. Sofia Douzgou, MD
    St Mary's Hospital, Manchester, Englandmor

    Dr. Douzgou is a consultant at the Manchester Centre for Genomic Medicine at Central Manchester University Hospitals NHS Foundation Trust. She is co-organizer of the International Manchester Dysmorphology Course and Conference and has assisted the Orphanet project – The European portal on rare diseases and orphan drugs, in Rome, Athens and Manchester. Dr. Douzgou has a special interest in pediatric genetic eye disease and Developmental Disorders, in particular expanding the potential for international collaboration and service delivery via web-based tools. Dr. Douzgou graduated from La Sapienza University Medical School, Rome, Italy, with Honours, in 2004 and from La Sapienza University Postgraduate School of Medical Genetics, Rome, Italy, with Honours, in 2008 and she holds a Master’s degree in Health management from the School of Economics, University of Piraeus, Greece.

  • Dr. Karen W. Gripp, MD, FAAP, FACMG
    Nemours AI duPont Hospital for Children, Wilmington, DE, USA

    Dr. Gripp is Chief of the Division of Genetics at the AI duPont Hospital for Children in Wilmington, DE, and a Professor of Pediatrics at T. Jefferson University and Medical School in Philadelphia, PA.  Dr. Gripp has authored over 70 peer reviewed publications and serves as an Associate Editor of the American Journal of Medical Genetics. Dr. Gripp is also a co‐director of the Professional Advisory Committee for the Costello Syndrome Network and her long standing research interest in Costello syndrome and its underlying genetic cause was recognized in 2003 through the John M. Opitz Young Investigator Award.

  • Dr. Judith G. Hall, OC, MD, FRSC, FCAHS
    University of British Columbia, Vancouver, Canada

    Dr. Hall is Professor Emerita of Pediatrics and Medical Genetics at the University of British Columbia, Vancouver. She is a clinical geneticist whose research includes the delineation of syndromes and the study of their natural history. Dr. Hall’s work has focused on congenital anomalies, including arthrogryposis (multiple congenital contractures), monozygotic twins, the genetics of short stature, neural tube defects, and nontraditional mechanisms of disease. Dr. Hall has published over 300 original articles, 70 chapters and 5 books, including, the Handbook of Normal Physical Measurements and Human Malformations and Related Anomalies. Dr. Hall is a Board member of Genome Canada, the Michael Smith Foundation for Health Research, the Vancouver Foundation, and the Canadian Institute of Academic Medicine. She has served as president of the American Society of Human Genetics and of the American Pediatric Society. In 1998, she was appointed an Officer of the Order of Canada for her contributions to the education of geneticists and her care of patients.

  • Prof. Arnold Munnich, MD, PhD
    Necker Hospital, University Paris-Descartes, Paris, France

    Prof. Munnich is Professor of Genetics since 1989, Director of the Department of Genetics at Hospital Necker, University Paris-Descartes. He is the Director of an INSERM Research Laboratory. His main research interests are Genetics and Epigenetics of Neurometabolic Diseases and Birth Defects. He is the author or co-author of more than 700 publications in peer reviewed journals since 1980. Prof. Munnich is a member of the editorial board of the Journal of Medical Genetics, European Journal of Human Genetics, Human Genetics, Clinical Genetics and Human Molecular Genetics. He served as scientific and medical advisor of the President of the French Republic, Nicolas Sarkozy. Prof. Munnich was awarded the Grand prix Inserm in 2000 and the European Society of Human Genetics prize in 2008.

  • Prof. Mordechai (Motti) Shochat, MD
    Sheba Medical Center, Tel-Hashomer, Israelk

    Prof. Shochat is head of the genetic department in Schneider and Rabin Hospitals in Israel, and is a world renowned expert in medical genetics with 248 original research articles to his credit. He has co-authored and edited two books, and received numerous personal awards for his achievements in genetics research. For several decades he has served as professor of pediatrics and medical genetics at Tel Aviv University and Director of the Rafael Recanathi institute for Medical Genetics.  Prof. Shochat is a member of the Israeli, American and European Societies of Medical Genetics, as well as of the National Counseling Committee of the Ministry of Health for OB/GYN and Genetics.

  • Dr. Michael Baraitser
    London Medical Databases, London, England

    Dr. Michael Baraitser is the author and co-founder of London Medical Databases. He was formerly Consultant in Clinical Genetics, at Great Ormond Street Children’s Hospital, London. Born in Cape Town, he studied Medicine and Agriculture at the University of Stellenbosch before immigrating to the UK in the early 1970’s. He studied genetics under Prof Cedric Carter and was appointed consultant at the Kennedy Galton Centre, London, before moving back to the Hospital for Sick Children, Great Ormond Street. Dr. Baraitser has co-authored over 300 papers on syndrome recognition and gene identification and several books with the late Prof. Robin Winter.

  • Prof. Lina Basel-Salmon, MD, PhD
    Sackler Faculty of Medicine, Tel Aviv University & Recanati Genetic Institute, Rabin Medical Center and Schneider Children's Medical Center, Israel

    Prof. Basel is head of the children genetics clinic and head of the genetics service at Schneider Hospital in Israel. Prof. Basel has more than a decade of experience with genetic practice and child development. She has also co-authored numerous research articles together with Prof. Shohat and received numerous personal awards for her achievements in genetics research. Prof. Basel also serves as professor of human genetics and pediatrics at Tel Aviv University and is frequently invited to speak at international conferences and conventions.

  • Vivian J. Weinblatt, MS, CGC
    Arcadia University, Glenside, PA, USA

    Ms. Vivian Weinblatt is a certified genetic counselor with over 20 years of clinical experience in multiple settings.  She has published book chapters on the topics of genetic counseling and multiple gestations. Ms. Weinblatt previously served as the president of the National Society of Genetic Counselors and the Genetic Counseling Foundation and is currently an adjunct professor at Arcadia University’s Genetic Counseling Program.  Ms. Weinblatt obtained her undergraduate degree from Cornell University in Human Development and Family Studies, and her Master’s degree in Genetic Counseling from the University of California, Berkeley. Ms. Weinblatt is certified by the American Board of Medical Genetics, and is a Charter member of the American Board of Genetic Counseling.

  • Dr. Tina Duelund Hjortshøj, MD, PhD
    Center of Fragile X, Copenhagen, Denmark

    Dr. Duelund Hjortshøj is a Clinical Genetical specialist currently working in Center of Fragile X in Copenhagen, Denmark. She has been in the field of medical genetics since 2003 and achieved her medical specialist registration three years ago. She has a broad experience in clinical genetics, but her research has mainly been focused on Bardet-Biedl syndrome.

  • Prof. Dr. Gabriele Gillessen-Kaesbach, MD
    Director, Institut für Humangenetik, Lubeck, Germany
  • Dr. Himanshu Goel, MBBS, MD, DM, FRACP
    University of Newcastle, Newcastle, Australia
  • Dr. Anna C. E. Hurst, MD, MS
    University of Alabama, Birmingham, AL, USA

    Dr. Hurst is an Assistant Professor of Medical Genetics in the Department of Genetics at the University of Alabama at Birmingham and an adjust faculty member at the HudsonAlpha Institute for Biotechnology. She is a board-certified pediatrician who also trained as a genetic counselor. She is a pediatric clinician for the UAB Undiagnosed Disease Program, skeletal dysplasia clinic, and general genetics. Her clinical interests include dysmorphology, congenital anomaly syndrome delineation, and incorporating phenotypes into the interpretation of genomic sequencing data.

  • Dr. Valeria Capra, MD, PhD
    Istituto Giannina Gaslini, Genova, Italy
  • Dr. Annick Raas Rothschild, MD
    Sheba Medical Center, Tel-Hashomer, Israel

    Annick Raas-Rothschild is a Pediatrician-Medical Geneticist. She is the director of the institute for rare diseases, at the Sheba Medical Center, Tel-Hashomer. She runs a pediatric clinic at the Safra children Hospital [ Sheba Medical Center] for children affected with undiagnosed disorders, and malformations syndromes. Annick is an associate professor at the department of Pediatrics and associate faculty at the department of Human Molecular Genetics and Biochemistry at the Sackler School of medicine, Tel Aviv University, Ramat Aviv. Since 2012, Annick is the country coordinator for Israel at the “Orphanet”, which is a portal for information on rare diseases and orphan drugs. Her research focus on rare diseases including the delineation of new phenotypes [Al Awadi Raas-Rothschild syndrome, Nablus mask-like facial syndrome, glutamate receptor encephalopathy, adaptor complex 4 deficiency syndrome]. She works on the identification of disease-causing genes of rare diseases such as Spondylo-meta-epiphyseal dysplasia with short hands and calcifications due to DDR2 mutations. Her research interests focus also on lysosomal storage diseases [ LSD] such as the gene identification of mucolipidosis II and III, mucolipidosis IV. Since 2001, she has been involved in clinical research linked to new option of treatment of patients affected with LSD’s such as Fabry disease, and mucopolysaccharidosis [MPS].

  • Dr. Chad Haldeman-Englert, MD
    Fullerton Genetics Center, Asheville, NC, USA

    Dr. Chad Haldeman-Englert is a Clinical Geneticist at the Fullerton Genetics Center in Asheville, NC (USA). He is an adjunct clinical faculty member of the University of North Carolina School of Medicine and the Wake Forest School of Medicine, and is actively involved in teaching genetics to students, residents, and practicing clinicians. He currently serves in leadership of the North Carolina Medical Genetics Association, and is a member of the Education Committee of the American College of Medical Genetics and Genomics. His clinical and research interests are in dysmorphology and multiple congenital anomalies, and he is an active participant at the David W. Smith Workshop and the unknowns session at the annual ACMG meeting. Dr. Haldeman-Englert enjoys incorporating new technologies into the clinical and classroom settings, and was an early subscriber to using facial recognition software in his clinical practice.

  • Prof. Koen Devriendt
    University Hospitals Leuven, Belgium

    Prof. Devriendt is Professor of Medical Genetics and Embryology at the KU Leuven, and consultant at the Center for Human Genetics at the University Hospitals Leuven, Belgium. He is co-organizer of the annual international European Dysmorphology Meeting in Strasbourg, France. Prof. Devriendt has a special interest in dysmorphololgy, syndromology and genetics of congenital malformations. He is head of the laboratory for Genetics of Human Development, which studies the genetics of congenital malformations and syndromes. He has (co)authored over 400 peer reviewed publications. He actively supports the emerging human genetics community in the DR Congo by providing training and supervising local research projects.

  • Dr. Omar Abdul-Rahman
    University of Nebraska Medical Center, Omaha, NE, USA

    Omar Abdul-Rahman serves as the Division Director for Medical Genetics in the Department of Pediatrics at the University of Mississippi Medical Center and serves as the founding director for the Center of Genetic Medicine. His clinical practice is focused primarily on pediatric patients at the Batson Children’s Hospital and he also participates in the teaching of genetics to first, second, and third-year medical students with a focus on genetic principles, common genetic conditions, and pharmacogenetics. His background and research interests lie in developing new approaches to systematically capture phenotypic information relevant to clinical genetics, and to apply that information in the context of molecular genetics and genomics so as to reach a mechanistic and diagnostic understanding of health and human disease.

  • Dr. John Graham, MD, ScD
    CSMC and Harbor-UCLA Medical Center, Torrance, CA, USA

    Dr. John Graham is a pediatrician and medical geneticist, with over 35 years of training and experience in clinical genetics, dysmorphology, teratology, developmental disabilities, communicative disorders, and public health aspects of birth defects. He completed fellowships in developmental disabilities and dysmorphology, and his research involves teratogenic syndromes, genetic syndromes, and other factors that cause birth defects. He holds a Professor of Pediatrics Emeritus Lifetime Appointment at UCLA School of Medicine, where he is on the UCLA Intercampus Medical Genetics Training Program Executive Committee. He continues to treat patients at CSMC and Harbor-UCLA Medical Center. He is an academic clinical geneticist, and his experience covers a wide variety of clinical problems, including craniofacial disorders, growth disorders, birth defects, intellectual disability, genetic conditions, and teratogenic disorders. He currently serves on the Section of Genetics and Birth Defects and the Section of Child Development for the American Academy of Pediatrics. He has served on the Editorial Boards for the following journals: Teratology, Birth Defects Research, American Journal of Medical Genetics, Congenital Anomalies (Japan), Annales de Génétique (France), European Journal of Medical Genetics, Global Pediatric Health, and Clinical Pediatrics. He is a past president of the Teratology Society, where he also served on the Council for many years. He is a past president of the Society for Craniofacial Genetics. He has authored over 240 publications in peer-reviewed journals, as well as over 100 reviews, book chapters and one book. He has been a longstanding and active member of numerous professional organizations and academic societies concerned with the health of children and with the causes and prevention of birth defects, including the American Society of Human Genetics, European Society of Human Genetics, American College of Medical Genetics,
    American Academy of Pediatrics, Society for Pediatric Research, American Pediatric Society, Western Society for Pediatric Research, Teratology Society, and the Society for Craniofacial Genetics.

  • Prof. Martin Zenker, MD
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
  • Dr. Scott McLean
    Children’s Hospital of San Antonio, San Antonio, TX, USA
  • Dr. Aime Lumaka, MD, PhD
    University of Leuven, Leuven, Belgium
  • Dr. Antonio Martinez Carrascal
    Requena General Hospital, Valencia, Spain

    Dr. Martínez Carrascal is Chief of the Pediatric Service in the Requena

    General Hospital (Valencia) Spain, since 1993. Member of the Executive

    Board of the Spanish Society of Clinical Genetics and

    Dysmorphology.(S.E.G.C.D.) Member of the Spanish Collaborative Study of

    Congenital Malformations.(E.C.E.M.C.). Member of the Spanish Society of

    Pediatric Neurology. (S.E.N.E.P.).

  • Dr. Audrey Woerner
    Children's Hospital of Pittsburgh, Pittsburgh, PA, USA
  • Dr. Brian Chung
    Queen Mary Hospital, Hong Kong
  • Dr. Carlos Ferreira, MD, FACMG
    Children's National Health System, Washington, D.C.
  • Dr. Elizabeth Roeder
    Children's Hospital of San Antonio, San Antonio, TX, USA
  • Dr. Gabriela Soares, MD
    Centro Genética Médica, Portugal
  • Dr. Lynne Bird, MD
    Rady Children’s Hospital, San Diego, CA, USA
  • Dr. Margaret Adam
    University of Washington, Seattle, WA, USA
  • Dr. Martin Mensah
    Institute of Medical Genetics and Human Genetics, Berlin, Germany
  • Dr. Matt Deardorff
    Children's Hospital of Philadelphia, PA, USA
  • Dr. Olaf Bodamer, MD, PhD, FACMG, FAAP
    Boston Children's Hospital, Boston, MA, USA
  • Prof. Alessandra Renieri
    Università di Siena, Siena, Italy  
  • Dr. Alan Beggs
    Boston Children's Hospital, Boston, MA, USA
  • Dr. Pedro Sanchez
    Children's Hospital of Los Angeles, Los Angeles, CA
  • Dr. Ronny Kershenovich S.
    Hospital General de Mexico, Mexico City, Mexico

    Born and raised in Mexico City

    Studied medicine at Universidad Anahuac school of medicine

    Medical specialty in medical genetics at the Hospital General de Mexico.

    Certified geneticist from the Mexican Board of Genetics.

    Faculty member and professor of genetics in the Instituto Tecnológico de Estudios.

    Superiores Monterrey School of Medicine.

    Staff member of the Centro Médico ABC (American British Cowdray Medical Center).

    Staff member of the Sanatorio Español.

    Staff member of the Hospital Infantil Privado Star Medica.

    Medical director of Citogen, SC. Cytogenetic Laboratory.

    Medical sub director in Genomica, SC Genetics Clinic.

    Member of ASHG, ESHG, ACMG.

    Special interests are in pediatric genetics and oncology.

  • Dr. Steven A. Skinner, MD
    Greenwood Genetic Center, Greenwood, SC, USA

    Dr. Skinner is the Director of the Greenwood Genetic Center. He is a clinical geneticist involved in the evaluation and treatment of children and adults with birth defects, intellectual disabilities, and other genetic disorders. His areas of interest include Rett syndrome, Angelman syndrome, autism, and intellectual disabilities. Dr. Skinner has been actively involved in the treatment initiative of the Center and was instrumental in the development of the South Carolina Center for the Treatment of Genetic Disorders.
    Dr. Skinner is certified by the American Board of Medical Genetics (1990) and by the American Board of Pediatrics (1985). He is a Founding Fellow of the American College of Medical Genetics and a Fellow of the American Academy of Pediatrics. He is also a member of the American Society of Human Genetics, the South Carolina Medical Association, the South Carolina Pediatric Society, and the Greenwood County Medical Society.

  • Prof. Peter Krawitz
    The University of Bonn, Bonn, Germany
  • Dr. John Carey
    University of Utah, Salt Lake City, UT, USA
  • Dr. Donald G. Basel
    Children's Hospital of Wisconsin, Milwaukee, WI, USA
  • Dr. June Anne Gold
    Loma Linda University Medical Center, Loma Linda, CA, USA
  • Ghayda Mirzaa, M.D.
    Seattle Children's Research Institute Center for Integrative Brain Research, Seattle, WA, USA

    I am a geneticist and researcher with board certifications in pediatrics, medical genetics, and molecular genetics. The goal of my research is to
    investigate the genetic basis of human developmental brain disorders, including brain growth abnormalities, malformations of cortical development,
    autism and epilepsy. My work on the PI3K-AKT-MTOR related disorders has led to the identification of several genes within this pathway that cause brain
    overgrowth and focal cortical dysplasia (Rivière et al., Nature Genetics 2012; Mirzaa et al., Nature Genetics 2014; Jansen et al., Brain 2015; Mirzaa et
    al., Lancet Neurology, 2015; Mirzaa et al., JAMA Neurology, 2016). My current research focuses on identifying the molecular and cellular abnormalities
    of developmental brain disorders in affected human neurological tissues, with a special emphasis on the detection of low frequency genetic variation and
    pathway dysregulation using high throughput genomic, transcriptomic, and proteomic methods to facilitate molecularly targeted therapeutic trials.