2025 Genetics & Genomics Review Course Online

Bruce R. Korf, MD, PhD, FACMG

Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics

Chief Genomics Officer, UAB Medicine

University of Alabama at Birmingham

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 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). 

Walla Al-Hertani, MD. FACMG

Director, Boston Children's Lysosomal Disease Program (BoLD)

Attending Physician

Associate Professor of Pediatrics

Dr. Walla Al-Hertani is a Medical Biochemical Geneticist and a Clinical Geneticist with expertise in inborn errors of metabolism (IEMs) and a special interest in Lysosomal Storage Diseases and Glycogen Storage Diseases. Dr. Al-Hertani received her Doctor of Medicine degree from Dalhousie University in Halifax, Nova Scotia, followed by the completion of a Clinical Genetics residency at the University of Ottawa and a Medical Biochemical Genetics fellowship at the Hospital for Sick Children (SickKids) and the University of Toronto. Dr. Al-Hertani practiced as a Medical Biochemical Geneticist and a Clinical Geneticist at the Montreal Children’s Hospital and McGill University, followed by the Alberta Children’s Hospital in Calgary, Canada before relocating to Boston. Dr. Al-Hertani is the Director of the Metabolism Program and the Boston Children’s Lysosomal Disease (BoLD) Program and is actively involved in a number of clinical trials investigating innovative therapies for IEMs and rare diseases.

Pinar Bayrak-Toydemir, MD, PhD, FACMG

University of Utah School of Medicine

Professor, Clinical Pathology

Medical Genetics and Genomics Department

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.

John A. Bernat, MD, PhD, FACMG

Clinical Associate Professor of Pediatrics

Division of Medical Genetics and Genomics

University of Iowa

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.

Angela Grochowsky, MD, FACMG, FAAP, FACP

Associate Professor

Vanderbilt University Genetics

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

Kaiser Permanente Hawaii

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

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 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

Dr. Sharon Plon is a board-certified medical geneticist and a longstanding cancer genetics researcher, 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.

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

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

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.