Course Directors

Dr. Korf is the Associate Dean for Genomic Medicine, School of Medicine; Chief Genomics Officer, UAB Medicine; Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics.  Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are genomic medicine and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, and co-PI of the Alabama Genomic Health Initiative and the All of Us Southern Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), and Emery and Rimoin’s Principles and Practice of Medical Genetics.

 Dr. Korf received his bachelors and medical degrees from Cornell University.  He completed his PhD in Genetics and Cell Biology at Rockefeller University.  He completed residency in pediatrics at Boston Children’s Hospital, neurology in the Harvard-Longwood Neurology Training Program, and genetics in the Harvard Medical School Genetics Training Program.  He is certified by the American Board of Genetics and Genomics in clinical genetics, clinical cytogenetics, and clinical molecular genetics; the American Board of Pediatrics in pediatrics; the American Board of Psychiatry and Neurology in neurology (child neurology). 

My current research interests are molecular investigations of the pathogenesis of Mendelian disorders. These include specific studies of the following: 1) genetic defects in the growth hormone (GH) synthetic pathway and regulation of alternative splicing of GH1 transcripts, 2) genetic basis of familial primary pulmonary hypertension (FPPH), 3) genetic basis of familial dyslexia, 4) genetic basis of idiopathic pulmonary fibrosis (IPF) and 5) determining the molecular basis of VLCAD, LCHAD and other selected disorders of fatty acid oxidation and genes that metabolize medications using a new patented method (GVS) to screen for human genome variation.

Ali Al-Beshri is an assistant professor in the Department of Genetics at the University of Alabama at Birmingham. He completed his medical degree at the Dammam University in Saudi Arabia. He completed a combined internal medicine and medical genetics residency at the University of Alabama at Birmingham and a medical biochemical genetics fellowship at the National Human Genome Research Institute at the NIH. He is board certified in Internal Medicine, Clinical Genetics and Genomics, and Medical Biochemical Genetics. His clinical interests are adult genetics, mitochondrial disease, and inborn errors of metabolism.

Dr. Bayrak-Toydemir is a medical director of the Molecular Genetics and Genomics Department at ARUP and a professor (tenure) of clinical pathology at the University of Utah’s School of Medicine. Dr. Bayrak-Toydemir received her MD at the Ankara University School of Medicine, and PhD in human genetics at the Ankara University School of Medicine. She completed a fellowship in clinical molecular genetics at the University of Utah, School of Medicine. She is certified with the American Board of Medical Genetics Medical Genetics and Genomics in Laboratory Genetics and Genomics, and a member of the American Society of Human Genetics, Hereditary Hemorrhagic Telangiectasia Foundation International, Inc., and the Turkish Society of Medical Genetics.

She served in the Academic Senate (2017-2019). She is a member of the School of Medicine Faculty Appointment, Review, & Advancement Committee. She is also member of the School of Medicine College Council.

Dr. Bayrak-Toydemir has focused her research efforts on understanding the molecular genetic characteristics of inherited vascular diseases. She primarily studies Hereditary Hemorrhagic Telangiectasia (HHT) disease. In addition to HHT, her research aims to identify genes that cause various inherited vascular malformations, including capillary malformation-arteriovenous malformation syndrome.

Dr. Bayrak-Toydemir is also interested in application of next generation sequencing to molecular diagnostics and involved developing many practice guidelines. Specifically, she has focused on undiagnosed diseases using exome and genome sequencing and deep sequencing of vascular tissues to identify somatic alterations. She is part of the NIH-undiagnosed disease network.

John Bernat, MD, PhD, is a clinical associate professor in the Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, at the University of Iowa. He is board-certified in clinical genetics and genomics and clinical molecular genetics and genomics. His clinical interests include lysosomal disorders, skeletal dysplasias, and 22q11.2 deletion syndrome. He currently serves as a site principal investigator for eleven active clinical trials involving lysosomal disorders and related metabolic disorders, including two gene therapy trials. He also serves as Past-Chair for ACMG's Education and CME committee.

Gerard T. Berry, MD a biochemical geneticist and pediatric endocrinologist, is the Harvey Levy Chair in Metabolism and Director of the Metabolism Program at Boston Children’s Hospital, Professor of Pediatrics at the Harvard Medical School, and Director of the Harvard Medical School Biochemical Genetics Training Program. He is the President of the Society for Inherited Metabolic Disorders (SIMD). He is a Communicating Editor for the Journal of Inherited Metabolic Diseases and on the Editorial Board for the Journal, Metabolism. He is the Co-Editor for the Journal, Molecular Genetics and Metabolism-Reports. He is the co-chair for the Metabolomics Working Group of the NIH Undiagnosed Diseases Network (UDN). His review panel and other NIH service work included serving as a Member of Gene Therapy and Inborn Errors (GTIE) Special Emphasis Panel, a Member of the Therapeutic Advances for Genetic Diseases (TAG) study section and the Chairman of the Rare Diseases Clinical Research Network Data and Safety Monitoring Board 2. Dr. Berry has been the recipient of both NIH and non-federal grant awards. He has published over 200 peer-reviewed papers and over 45 book chapters. He was the recipient of the 2004 Emmanuel Shapiro SIMD Award. Dr. Berry’s primary clinical and basic science research efforts are focused on Galactosemia and, secondarily, on myo-inositol metabolism in the brain particularly during fetal development.

Pamela L. Flodman, MSc, MS, LCGC

Adjunct Professor, Pediatrics

School of Medicine

Director, Graduate Program in Genetic Counseling

Department of Pediatrics

University of California, Irvine

101 The City Drive

Mail Code: 4482

Orange, CA 92868

Tel: (714) 456‐5789

E‐mail: pflodman@uci.edu

Pamela Flodman, MSc, MS, LCGC is an Adjunct Professor in the Department of Pediatrics at the University of California, Irvine, where she serves as the program director for the Graduate Program in Genetic Counseling and as the Interim Chief of the Division of Genetic and Genomic Medicine.  Ms. Flodman received her MSc in applied statistics at the University of Oxford and her MS in genetic counseling at UC Irvine.  In her professional role as a board-certified, licensed genetic counselor, she works with individuals and families to assist them in understanding and adapting to the medical, psychological and familial implications of genetic variation for their health.  Her research focus is in genetic risk calculation and in the application of quantitative analysis to genetic data, to enable accurate communication of risk to patients and their families, and counseling strategies to promote informed decision making.

Dr. Angela Grochowsky is from a small town in Alabama near Huntsville. She pursued her undergraduate degree at The University of Alabama in Huntsville. Dr. Grochowsky obtained her medical degree from The University of Alabama School of Medicine in 2013. She then completed her combined Internal Medicine and Pediatrics residency at Indiana University. She went on to do her Medical Genetics fellowship at The National Institutes of Health and Johns Hopkins consortium. In addition, she went on to complete an additional fellowship in Medical Biochemical Genetics at The National Institutes of Health. She is board certified in Internal Medicine, Pediatrics, Medical Genetics, and Biochemical Genetics.  Dr. Grochowsky is passionate about caring for patients with genetic and biochemical disorders ranging from newborn to the end of life. She is highly interested in transitional care for patients with complex medical needs and has started a new Adult Down syndrome clinic at Vanderbilt over the past couple of years. She also loves teaching and helping healthcare professionals learn, understand, and appreciate the significance of genetics in patient care. She is the new Program Director for the Genetics Residency program at Vanderbilt and thoroughly enjoys spending time with residents and trainees.  When Dr. Grochowsky is not seeing patients or teaching she enjoys spending time with her 3 year old daughter, 1 year old son, french bulldog and husband. She is living out her dream job and truly loving being a Medical Geneticist.

Robert Hufnagel, MD, PhD, FACMG

Chief, Medical Genetics and Ophthalmic Genomics Unit

Chief, Ophthalmic Genomics Laboratory

NIH: National Eye Institute

10 Center Drive

Building 10, Room 10N109

Bethesda, Maryland 20814

Tel: (301) 503-1305

E-mail: robert.hufnagel@nih.gov

Dr. Robert Hufnagel is a clinician-scientist in the Ophthalmic Genetics and Visual Function Branch of the National Eye Institute. This branch of the National Institutes of Health plans and conducts clinical and laboratory research of gene expression, molecular genetics, cell biology, and molecular interactions important to the eye, and applies clinically relevant research findings to the prevention, diagnosis, and treatment of diseases affecting the eye and the visual system.

The goal of Dr. Hufnagel’s cutting edge research program applies the scientific approaches of developmental biology and molecular genetics to hereditary ophthalmic diseases to improve diagnosis and ultimately vision for these patients. Dr. Hufnagel has developed a translational research program using genomic sequencing to identify disease etiologies to discover novel disease genes and molecular targets for therapeutic trials.

His medical and research training has centered around clinical genetics, next-generation sequencing, bioinformatics, genome editing, induced pluripotent stem cells, and animal models including mouse, zebrafish, and lizard.

Dr. Hufnagel received his Ph.D. in neuroscience and his M.D. from The University of Cincinnati. He has published numerous publications and received many accolades for his work including the Director’s Award from the National Eye Institute.

Fady M. Mikhail, MD, PhD, FACMG

Co‐Director, Cytogenetics Laboratory

Professor, Department of Genetics, University of Alabama at Birmingham

720 20th Street South, Kaul Genetics Building,

Room #314A

Birmingham, AL 35294

Tel: (205) 934 9588

E‐mail: fmikhail@uab.edu

Dr. Mikhail graduated from the Faculty of Medicine, University of Alexandria, Egypt in 1990. He completed his Clinical Pathology residency at the Department of Clinical Pathology in the same University.  He received an Egyptian government scholarship to conduct this PhD thesis research work in the United States where he worked as a visiting scholar in the Pathology Department, School of Medicine, University of Illinois at Chicago, IL.  He earned his PhD from the Faculty of Medicine, University of Alexandria, Egypt in 2003.  Dr. Mikhail did his Clinical Cytogenetics fellowship at the Department of Genetics, School of Medicine, University of Alabama at Birmingham, AL, and was certified by the ABMGG in 2007.  He joined the faculty in the Department of Genetics, School of Medicine, University of Alabama at Birmingham, AL as an Assistant Professor in 2006. He was promoted to an Associate Professor in 2012 and to a full Professor in 2017.  Dr. Mikhail served on the ACMG Laboratory Quality Assurance (Lab QA) Committee from 2011 to 2021 and served as the chair of this committee from 2019 to 2021.  His research interests include identification of novel constitutional genomic disorders caused by microdeletions and microduplications using chromosomal microarray (CMA) technologies with special interest in neurodevelopmental disorders, and characterization of the clinical phenotype, molecular breakpoints, mechanism of rearrangement, as well as the functional categorization of the involved genes.  Dr. Mikhail’s research interests also include identification of novel cytogenetic rearrangements in patients with various hematologic malignancies that might have a causal role in the oncogenic process using molecular cytogenetic techniques, and identification of the underlying genes.

Sharon E. Plon, MD, PhD, FACMG

Professor, Pediatrics/Hematology‐Oncology

Professor, Molecular and Human Genetics

Human Genome Sequencing Center

Director, Medical Scientist Training Program

Department of Pediatrics

Baylor College of Medicine

Feigin Center Room 1200.18

1102 Bates Street

Houston, TX 77030 Tel: (832) 824‐4251

   E‐mail: splon@bcm.edu

Dr. Sharon Plon is a board-certified medical geneticist and a longstanding cancer genetics researcher including leading to the discovery of new cancer susceptibility genes and the implementation of genomic testing in medicine.  Dr. Plon holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor College of Medicine in the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics and Human Genome Sequencing Center. Drs. Plon and D. William Parsons were principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients and this study is now being expanded into diverse patient populations across Texas (KidsCanSeq trial). Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and chairs the ClinGen hereditary cancer effort. She currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial. Dr. Plon is also working closely with Dr. Philip Lupo on a population-based study to understand the association between birth defects and cancer risk in children. Dr. Plon recently finished terms on the Board of Directors of the American Society of Human Genetics and the NIH Human Genome Research Advisory Council.
 

Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital working to integrate genomics into medical practice. She is a board-certified laboratory geneticist, Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at Harvard Medical School, working to guide genomic testing for clinical and clinical research use. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database.

Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss. She also completed a fellowship in Clinical Molecular Genetics at Harvard Medical School followed by board certification by the ABMGG.

Louise E. Wilkins‐Haug, MD, PhD, FACMG

Division Director, Maternal Fetal Medicine and Reproductive Genetics

Brigham & Women's Hospital

Professor, Obstetrics/Gynecology

Harvard Medical School

75 Francis Street

Boston, MA 02115

Tel: (617) 732‐4208

Fax: (617) 264‐6310

E‐mail: lwilkinshaug@partners.org

Dr. Wilkins-Haug is board certified in both maternal-fetal medicine and clinical genetics with a focus on the integration of genetics into obstetric care and the investigation of prenatal exposures and birth defects. She received her PhD in genetics from the Medical College of Virginia, her medical degree from Stanford and completed her training in obstetrics and gynecology training at the University of Colorado and her Maternal Fetal Medicine fellowship at Brigham and Women’s Hospital (BWH), Harvard, Boston Massachusetts. She remained at BWH where she is a professor in the Dept of Obstetrics and Gynecology, is director for the combined Maternal-Fetal/ Genetics Fellowship and the Maternal Fetal Medicine Fellowship and the Division Director of Maternal Fetal Medicine and Reproductive Genetics. As director for the Center for Fetal Medicine she oversees the provision of genetic counseling, perinatal consultation, fetal treatment and diagnostic testing.
 

Anthony Wynshaw‐Boris, MD, PhD, FACMG

James H. Jewell Professor of Genetics

Chair, Department of Genetics and Genome

Sciences

Case Western Reserve University, School of

Medicine

University Hospitals Case Medical Center

One 10900 Euclid Avenue, BRB731

Cleveland, OH 44106‐4955

Tel: (216) 368‐0581

E‐mail: ajw168@case.edu

Tony Wynshaw-Boris received his MD, PhD degrees from Case Western Reserve University School of Medicine. His PhD was under the direction of Richard Hanson, PhD, where he elucidated the sequences within the PEPCK promoter required for activation by cAMP and glucocorticoids.

He did his residency at Rainbow Babies and Children's Hospital, in Pediatrics followed by a medical genetics fellowship at Boston Children's Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, MD, where he studied mouse models of developmental disorders.

In 1994, Dr. Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the NIH, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to UCSD School of Medicine, where he became Professor of Pediatrics and Medicine, as well as Chief of the Division of Medical Genetics in the Department of Pediatrics.

In 2007, he moved to UCSF School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics, and the Chief of the Division of Medical Genetics in the Department of Pediatrics. At UCSF, in addition to mouse models, his laboratory began to use patient-derived induced pluripotent stem cell (iPSC) models to study human disease. In June 2013, he returned to Cleveland to become the Chair of the Department of Genetics and Genome Sciences. His laboratory continues to use mouse and iPSC models to shed light on mechanisms of neurogenetic diseases with the ultimate goal of providing novel therapies.

Dr. Wynshaw-Boris was President of the American Society for Human Genetics for 2020, and is now Past President in 2021. He was appointed to the National Advisory Child Health and Human Development Council of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, in 2019. He has also been elected to membership in the American Society for Clinical Investigation, the Association of American Physicians, the American Pediatric Society, and he was elected as Fellow of the American Association for the Advancement of Science.

Continuing Medical Education (CME AMA & CME Other)

Accreditation
The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this other activity for a maximum of 29 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

P.A.C.E.®

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program.

ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider (50-11878).  This course is registered with CEBroker #20-1025036.  ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®.  This activity has been approved for 29.0 P.A.C.E.® contact hours.

NSGC Category 2 CEUs/Genetic Counselors (self-report)

This activity meets requirements to apply for Category 2 CEUs from the National Society of Genetic Counselors (NSGC). Please complete the module and submit your certificate to NSGC, using the instructions for “How To Submit a Category 2 CEU Application in the NSGC CEU Portal.” ACMG is the accredited sponsor. You must apply within three months (90 days) of the activity date. NSGC charges a $50 fee for processing and a certificate.

ABMGG Continuing Certification - Lifelong Learning and Self-Assessment (Part II)

ABMGG diplomates must demonstrate involvement in continuing education as part of the Lifelong Learning and Self-Assessment (Part II) requirement of the ABMGG Continuing Certification Program (CCP). Successful completion includes participation in the live question/answer periods, viewing of lectures, evaluation components, testing components, all enable participants to earn a certificate of completion for submission via the ABMGG Portal towards this requirement.

Claiming your Educational Credits

Complete the activity, take the pre and the post-test (retakes allowed), and carefully complete the evaluation form.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.