Course Directors
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
1720 2nd Ave. S., Kaul 230
Birmingham, AL 35294
Tel: (205) 934‐9411
E‐mail: bkorf@uab.edu
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).
John A. Phillips, III, MD, FACMG
David T. Karzon Professor of Pediatrics
Professor of Pathology, Microbiology and Immunology and Professor of Medicine
Director, Division of Medical Genetics & Genomic Medicine
Vanderbilt University School of Medicine
DD‐2205 Medical Center North
Nashville, TN 37232‐2578
Tel: (615) 322‐7602
E‐mail: john.a.phillips@vumc.org
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.
Faculty

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Ali S. Al-Beshri, MD, FACMG
Assistant Professor, Department of Genetics
Heersink School of Medicine, University of Alabama at Birmingham
1720 2nd Ave S., VH1L108B
Birmingham, AL, 35294-0019
Phone: (205) 934-9528
Fax: (205) 975-6389
Email: asabeshri@uabmc.edu
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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.

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Pinar Bayrak-Toydemir, MD, PhD, FACMG
University of Utah School of Medicine
Professor, Clinical Pathology
Medical Genetics and Genomics Department
30 N 1900 E
Salt Lake City, UT 84132
Tel: (801) 581-7498
Email: pinar.bayrak@aruplab.com
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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.

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John A. Bernat, MD, PhD, FACMG
Clinical Associate Professor of Pediatrics
Division of Medical Genetics and Genomics
University of Iowa
200 Hawkins Dr, W125 GH
Iowa City, IA 52242
Tel: (319) 356-2675
E-mail: john-bernat@uiowa.edu
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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 Berry, MD, FACMG
Harvey Levy Chair in Metabolism Director,
Metabolism Program Division of Genetics and Genomics Boston Children’s Hospital
Professor of Pediatrics, Harvard Medical School,
Center for Life Science Building,
3 Blackfan Circle, Suite 14070
Boston, MA 02115
Tel: (617) 355‐4316
E‐mail: Gerard.Berry@childrens.harvard.edu
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
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.

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Angela Grochowsky, MD, FACMG, FAAP, FACP
Associate Professor
Vanderbilt University Genetics
3319 Acklen Avenue
Nashville, TN 37212
Tel: 256-566-4849
Email: angela.grochowsky@vumc.org
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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.
