Skip to main content

SAMD9 and SAMD9L Syndromes

Insights into Pathogenesis and Clinical Picture

Friday – Saturday, November 1 – 2, 2019

St. Jude Children's Research Hospital
Marlo Thomas Center for Global Education and Collaboration
GEC Lecture Hall
262 Danny Thomas Place
Memphis, TN 38105
Driving directions >>


SAMD9 and SAMD9L (SAMD9/9L) genes are paralogue genes on chromosome 7q involved in viral host defense, endosome formation, and cellular proliferation. Germline mutations in both genes are associated with diverse clinical phenotypes and a risk for myelodysplastic syndromes with non-random loss of chromosome 7. The full clinical picture is not defined, and recommendations on management and surveillance of mutation carriers are lacking. Furthermore, the physiological function of SAMD9/9L genes, as well as the mechanistic link between germline mutations and disease remain elusive.

We offer a two-day meeting that aims to bring together the international body of SAMD9/SAMD9L experts to assemble a network of investigators who are focused on the study of these genes as well as associated syndromes. During this time, we will listen to multiple presentations describing the current knowledge within the field and potential directions forward to answer the most pressing scientific questions. Additionally, we will have representatives from around the world describe the clinical presentations of their SAMD9/9L patient cohorts so to open a discussion to develop a clinical registry, and establish consensus guidelines on diagnosis, therapy and surveillance based on expert knowledge.

  1. Thursday, October 31, 2019

    Time Event
    7:30 pm Reception at the Peabody Hotel

    Friday, November 1, 2019

    Time Event
    7:30 am Pick-up at the Peabody Hotel
    Session 1: Overview of History and Clinical Aspects — Moderators: Inga Hoffman-Zhang, MD (Madison) and Thierry LeBlanc, MD (Paris)
    7:55 am Introduction and Welcome
    8:00 am From Monosomy 7 Syndrome to SAMD9/9L Germline Mutations: Where Are We Now? — Kevin Shannon, MD (San Francisco)
    8:30 am Strange Bedfellows: Ataxia and Pancytopenia — Wendy H. Raskind, MD, PhD (Seattle)
    9:00 am MDS in Young People: A Colorful Bunch of Different Entities — Charlotte Niemeyer, MD (Freiburg)
    9:30 am MIRAGE — Satoshi Narumi, MD, PhD (Tokyo)
    9:50 am Break
    Session 2: Disease Phenotypes and Genotypes — Moderators: Lauren Jeffries, DO, FACMG (New Haven) and Lisa J. McReynolds, MD, PhD (Bethesda)
    10:20 am SAMD9 in Endocrine Development and Growth — John Achermann, MD, PhD (London)
    10:50 am Novel mutations in SAMD9L: Mimics of the autoinflammatory interferonopathy CANDLE — Raphaela T. Goldbach-Mansky, MD, MHS (Bethesda) and Katherine Calvo, MD, PhD (Bethesda)
    11:10 am SAMD9/9L Variant Curation and Computational Prediction — Sushree Sahoo, PhD (Memphis)
    11:30 am Lunch
    Session 3: Model Systems and Mechanisms — Moderators: Kanako Tanase-Nakao, PhD (Tokyo) and Jeff Klco, MD, PhD (Memphis)
    1:30 pm Establishment of Mouse Models to Elucidate Normal and Mutated Samd9/L function — Toshiya Inaba, MD, PhD (Hiroshima)
    2:00 pm Modeling Chromosome 7q22 Segmental Deletions in Mice — Jasmine C.Y. Wong, PhD (San Francisco)
    2:20 pm The Basic Research on the SAMD9 Protein: What, Where and With Whom? — Satoshi Narumi, MD, PhD (Tokyo)
    2:50 pm SAMD9/9L Structural Investigation — Melvin Thomas, PhD (Memphis)
    3:10 pm iPSC Modeling of SAMD9/9L GoF Mutations — Jason Schwartz, MD, PhD (Memphis)
    3:30 pm Break
    Session 4: Host Defense and Immune Dysregulation — Moderators: Hirotaka Matsui, MD, PhD (Kumamoto) and Bonnie Lau, MD, PhD (Baltimore)
    4:00 pm SAMD9 and SAMD9L form an essential host barrier against poxvirus infection — Yan Xiang, PhD (San Antonio)
    4:25 pm Mechanism of SAMD9 inhibition by poxvirus C7 and K1 — Junpeng Deng, PhD (Stillwater)
    4:50 pm Studying SAMD9/9L function with poxviruses as a tool — Jia Liu, PhD (Little Rock)
    5:15 pm Sterile Alpha Motif Domain-Dependent Mechanisms in Cellular Signaling and Survival — Kyle Hewitt, PhD (Omaha)
    6:00 pm Departure to Graceland, The Home of Elvis Presley (Tour and Dinner)

    Saturday, November 2, 2019

    Time Event
    7:30 am Pick-up at the Peabody Hotel
    Session 5: Clinical Practice — Moderators: Jean Soulier, MD, PhD (Paris) and Shinsuke Hirabayashi, MD (Hokkaido)
    8:00 am St. Jude Experience and Proposal for a Natural History Registry — Catherine (Katie) Nelson, DO (Phoenix)
    8:20 am The French Experience on SAMD9/9L Families — Marie Sebert, MD, PhD (Paris)
    8:40 am Difficult Transplants — Rakesh K. Goyal, MD, MRCP (Kansas City)
    8:50 am Clinical Outcomes of Patients with SAMD9/9L Mutations - EWOG MDS Experience — Brigitte Strahm, MD (Freiburg)
    Session 6: Case series (Rapid Fire) — Moderators: Jessica Boklan, MD (Phoenix) and Luiz Fernando Lopes, MD (Barretos)
    9:20 am

    26 Years to Diagnosis: SAMD9 mutation in a 28-Year- Old Woman with Mosaic Turner Syndrome with Isochromosome Xq — Sarah A. Bannon, MS (Houston)


    SAMD9/SAMD9L at CHOP. One Size Doesn’t Fit All — Timothy Olson, MD, PhD (Philadelphia)


    Play it Again and Again, SAM — Shang-Hsien Yang, MD (Boston)


    Familial Monosomy 7 — Yigal Dror, MD, FRCP(C) (Toronto)


    Diagnosed with Russell Silver Syndrome...until Age 9 — Bonnie Lau, MD, PhD (Baltimore)


    A Family with Ataxia and a Child with Variable Pancytopenia — Alison Bertuch, MD, PhD (Houston)


    8 month old male with a SAMD9L mutation presenting with pancytopenia and infections progressing to HLH — Lisa J. McReynolds, MD (Bethesda)

    10:00 am Break
    Session 7: Assembly of an Expert Opinion (Panel Discussion) — Moderators: Marcin Wlodarski, MD, PhD (Memphis) and Taizo Nakano, MD (Aurora)
    10:30 am

    Diagnostic approach: Initial tests, what is a pathogenic mutation?
    Thierry LeBlanc, MD (Paris; pediatric and adult hematology)
    Satoshi Narumi, MD, PhD (Tokyo; genetic assays)
    John Achermann, MD, PhD (London; endocrinology)


    Surveillance approach: Frequency of monitoring and what should be included?
    Jason Schwartz, MD, PhD (Memphis; pediatric hematologist and MDS genomics)
    Sara Lewis (Memphis; genetic counseling)
    Wendy Raskind, MD, PhD (Seattle; genetics and neurology)


    Treatment approach: Thresholds for transplant, type of transplant?
    Brigitte Strahm, MD (Freiburg; BMT specialty)
    Timothy Olson, MD, PhD (Philadelphia; BMT specialty)
    Alison Bertuch, MD, PhD (Houston; bone marrow failure expert)

    12:00 pm Lunch
    12:30 pm Departure to the National Civil Rights Museum
    6:00 pm Dinner
  2. John Achermann, MD, PhD
    Professor of Paediatric Endocrinology
    Wellcome Trust Senior Research Fellow in Clinical Science
    Genetics & Genomic Medicine
    University College London (UCL) Great Ormond Street (GOS) Institute of Child Health
    London, United Kingdom

    Sarah A. Bannon, MA
    Senior Genetic Counselor
    Department of Clinical Cancer Genetics
    The University of Texas MD Anderson Cancer Center
    Houston, Texas, USA

    Alison Bertuch, MD, PhD
    Director, Bone Marrow Failure Program
    Associate Professor, Department of Pediatrics, Section of Hematology/Oncology
    Associate Professor, Molecular and Human Genetics
    Associate Professor, Program in Integrative Molecular and Biomedical Sciences
    Assistant Dean for Curriculum, Graduate School of Biomedical Sciences
    Baylor College of Medicine
    Houston, Texas, USA

    Jessica Boklan, MD
    Phoenix Children's Hospital
    Director, Clinical Research, Center for Cancer and Blood Disorders
    Director, Bone Marrow Failure Program
    Co-Director, Leukemia Program Professor of Clinical Pediatrics
    University of Arizona College of Medicine
    Phoenix, Arizona, USA

    Katherine Calvo, MD, PhD
    Senior Research Physician
    Hematology Section
    Department of Laboratory Medicine
    National Institutes of Health (NIH) Clinical Center
    Bethesda, Maryland, USA

    Junpeng Deng, PhD
    Biochemistry and Molecular Biology
    Oklahoma State University
    Stillwater, Oklahoma, USA

    Yigal Dror MD, FRCP(C)
    Professor of Paediatrics
    Division of Hematology/Oncology
    Director, Marrow Failure and Myelodysplasia Program
    Senior Scientist, Program in Genetics and Genome Biology, Research Institute
    The Hospital for Sick Children
    The University of Toronto
    Toronto, Ontario, Canada

    Prof. Luiz Fernando Lopes
    Medical Director
    Children's Cancer Hospital
    Chairman of the Paediatric MDS
    Barretos, Brazil

    Raphaela T. Goldbach-Mansky, MD, MHS
    Section Chief, Translational Autoinflammatory Diseases Section
    Laboratory of Clinical Immunology and Microbiology (LCIM)
    Division of Intramural Research (DIR)
    National Institute of Allergy and Infectious Diseases (NIAID)
    National Institutes of Health (NIH)
    Bethesda, Maryland, USA

    Rakesh K. Goyal, MD, MRCP
    Professor of Pediatrics
    UMKC School of Medicine
    Attending Physician
    Pediatric Hematology/Oncology/BMT
    Children’s Mercy Kansas City
    Kansas City, Missouri, USA

    Kyle Hewitt, PhD
    Department of Genetics, Cell Biology and Anatomy
    University of Nebraska Medical Center
    College of Medicine
    Omaha, Nebraska, USA

    Shinsuke Hirabayashi, MD, PhD
    Department of Pediatrics
    Hokkaido University Hospital
    Sapporo, Hokkaido, Japan

    Inga Hofmann-Zhang, MD
    Assistant Professor of Pediatrics
    Director, Pediatric Stem Cell Transplant Program
    Medical Director, Program for Advanced Cellular Therapy
    Pediatric Hematology/Oncology and Bone Marrow Transplant Program
    University of Wisconsin
    American Family Children’s Hospital
    Madison, Wisconsin, USA

    Toshiya Inaba, MD, PhD
    Department of Molecular Oncology and Leukemia Program Project
    Research Institute for Radiation Biology and Medicine
    Hiroshima University
    Kagamiyama, Higashihiroshima, Hiroshima, Japan

    Lauren Jeffries, DO, FACMG
    Instructor of Pediatrics
    Yale University School of Medicine
    Clinical Genetics Coordinator, Pediatric Genomics Discovery Program
    Yale Medicine
    New Haven, Connecticut, USA

    Jeffrey M. Klco, MD, PhD
    Assistant Member
    Department of Pathology
    St. Jude Children’s Research Hospital
    Memphis, Tennessee, USA

    Bonnie Lau, MD, PhD
    Assistant Professor, Pediatric Hematology
    The Johns Hopkins University School of Medicine
    Baltimore, Maryland, USA

    Thierry Leblanc, MD
    L'hôpital Robert-Debré
    Paris, France

    Sara Lewis
    Genetic Counselor III
    Department of Hematology
    St. Jude Children's Research Hospital
    Memphis, TN, USA

    Jia Liu, PhD
    Assistant Professor
    Department of Microbiology and Immunology
    College of Medicine
    University of Arkansas for Medical Sciences (UAMS)
    Little Rock, Arkansas, USA

    Hirotaka Matsui, MD, PhD
    Councilor of the Japanese Society of Hematology
    Councilor of the Japanese Society of Laboratory Medicine
    Councilor of the Japanese Society of Japan
    Professor, Department of Molecular Laboratory Medicine
    Faculty of Life Sciences
    Japan Laboratory Director
    Kumamoto University Hospital
    Honjō, Chūō-ku, Kumamoto, Japan


    Lisa J. McReynolds, MD, PhD
    Clinical Genetics Branch
    Division of Cancer Epidemiology and Genetics
    National Cancer Institute (NCI)
    Bethesda, Maryland, USA

    Akiko Nagamachi, MD, PhD
    Assistant Professor
    Division of Molecular Oncology
    Research Institute for Radiation Biology and Medicine
    Hiroshima University
    Kagamiyama, Higashihiroshima, Hiroshima, Japan

    Taizo Nakano, MD
    Assistant Professor of Pediatrics
    Medical Director, Vascular Anomalies Center
    Center for Cancer & Blood Disorders
    Children’s Hospital Colorado
    Aurora, Colorado, USA

    Satoshi Narumi, MD, PhD
    Department of Molecular Endocrinology
    National Research Institute for Child Health and Development
    Tokyo, Japan

    Catherine (Katie) Nelson, DO
    Pediatric Hematology Oncology
    Second Year Fellow
    Phoenix Children’s Hospital
    Phoenix, Arizona, USA

    Charlotte Niemeyer, MD
    Division of Hematology and Oncology
    University Children’s Hospital Freiburg
    Freiburg, Germany

    Timothy Olson, MD, PhD
    Medical Director, Pediatric Blood and Marrow Transplant Program
    Cell Therapy and Transplant Section
    Division of Pediatric Hematology
    Bone Marrow Failure Center
    Division of Pediatric Hematology
    The Children’s Hospital of Philadelphia
    Assistant Professor of Pediatrics
    University of Pennsylvania
    Philadelphia, Pennslyvania, USA

    Victor Pastor, PhD
    Division of Hematology and Oncology
    University Children’s Hospital Freiburg,
    Freiburg, Germany

    Wendy H. Raskind, MD, PhD
    Professor, Department of Medicine, Division of Medical Genetics
    Professor, Department of Psychiatry and Behavioral Sciences (Joint)
    Professor, Genome Science (Adjunct)
    University of Washington
    Seattle, Washington, USA

    Sushree Sahoo, PhD
    Postdoctoral Research Associate
    Department of Hematology
    St. Jude Children’s Research Hospital
    Memphis, Tennessee, USA

    Jason Schwartz, MD, PhD
    Clinical Education and Training
    St. Jude Children’s Research Hospital
    Memphis, Tennessee, USA

    Marie Sebert, MD, PhD
    Hematology Department, The National Institute of Health and Medical Research (INSERM) and the National Center for Scientific Research (CNRS)
    St. Louis Research Institute
    Hôpital Saint-Louis
    Université de Paris
    GFM (Groupe Francophone des Myelodysplasies)
    Paris, France

    Kevin Shannon, MD
    American Cancer Society Research Professor
    Auerback Distinguished Professor of Molecular Oncology
    Department of Pediatrics
    University of California, San Francisco
    San Francisco, California, USA

    Akiko Shimamura, MD, PhD
    Professor of Pediatrics
    Harvard Medical School
    Samuel E. Lux IV Chair in Hematology/Oncology
    Director, Bone Marrow Failure and MDS Program
    Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
    Boston, Massachusetts, USA

    Jean Soulier, MD, PhD
    Professor of Hematology
    Hematology Lab
    Hôpital Saint-Louis
    Université de Paris
    Paris, France

    Brigitte Strahm, MD
    Division of Hematology and Oncology
    University Children’s Hospital Freiburg
    Freiburg, Germany

    Kanako Tanase-Nakao, PhD
    Department of Molecular Endocrinology
    National Research Institute for Child Health and Development
    Tokyo, Japan

    Melvin Thomas, PhD
    Postdoctoral Research Associate
    Department of Pathology
    St. Jude Children’s Research Hospital
    Memphis, Tennessee, USA

    Jasmine C.Y. Wong, PhD
    Assistant Adjunct Professor
    Department of Pediatric Oncology
    University of California, San Francisco
    San Francisco, California, USA

    Yan Xiang, PhD
    Department of Microbiology, Immunology and Molecular Genetics
    The University of Texas Health Science Center at San Antonio
    San Antonio, Texas, USA

    Shang-Hsien Yang, MD
    Hualien Tzu Chi Hospital
    Hualien City, Hualien County, Taiwan
    Boston Children's Hospital
    Boston, Massachusetts, USA


Conference Hosts

  • Marcin Wlodarski, MD, PhD

    Marcin Wlodarski, MD, PhD


    Assistant Member, St. Jude Faculty

    Marcin was trained as a pediatrician and hematologist/oncologist at the University of Freiburg in Germany where under mentorship of Charlotte Niemeyer and studying large European patient cohorts he could gain expert knowledge in bone marrow failure and pediatric MDS. His lab focuses on characterization on genes predisposing to pediatric MDS/BMF and contributed to the understanding of GATA2 and SAMD9/9L genes as MDS germline drivers. In 2018 he joined St. Jude as faculty to establish a BMF/MDS clinical and translational research program.

  • Jeffery M. Klco, MD, PhD

    Jeffery M. Klco, MD, PhD


    Associate Member, St. Jude Faculty

    • Director, Division of Hematopathology and Molecular Pathology

    Jeffery Klco, MD, PhD, St. Jude Department of Pathology, is the director of the St. Jude Division of Hematopathology and Molecular Pathology and the medical director of Hematopathology and Immunopathology. He studies the genomics of pediatric myeloid tumors and myelodysplastic syndromes. Pediatric myeloid tumors commonly have a different set of genetic alterations from those seen in adults. Klco and his laboratory are working to understand the signaling pathways that contribute to myeloid cell development better and are using genomic information to improve the outcomes and risk stratification of children with these disorders.


To register for this event, please contact Kristy Jones.

Kristy Jones
Administrative Specialist
Department of Hematology
1 (901) 595-2752