Clinical Testing; Patient Care; Cases; Rare/Undiagnosed Disease

4A - Genomic Case Review with the Experts
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

Tuesday, October 10
1:20 PM - 2:50 PM

This session will demonstrate the power of genetics and genomics in the clinic by showing how patient care has been impacted and discoveries have been made to improve diagnostics and the quality of patient care.

Learning Objectives:

Paldeep Atwal

Assistant Professor of Medical Genetics and Medicine
Mayo Clinic

Paldeep Atwal, MB,ChB, is an Assistant Professor of Medical Geneticist and Medicine at Mayo Clinic, FL and serves as Medical Director for the Center for Individualized Medicine on the Jacksonville campus, having joined the Mayo Clinic in 2015. He received his medical degree from the University of Glasgow, and initially trained in hospital internal medicine with The Royal College of Physicians at Glasgow Royal Infirmary in Scotland. He did his genetics fellowship at Stanford University and subspecialty biochemical genetics fellowship at Baylor College of Medicine where he was involved in developing a clinical metabolomic profiling test. In addition he holds diplomas in structural molecular biology and forensic medical science.
He has a long standing interest in rare and undiagnosed disease including the use of multiple concurrent –omics platforms to provide a diagnosis to patients. Dr. Atwal’s clinical interests include clinical genomics, undiagnosed disease following lengthy diagnostic odysseys and inborn errors of metabolism including mitochondrial diseases.
Dr. Atwal’s awards include the 2014-2015 ACMG Foundation/Genzyme Fellowship in Biochemical Genetics Award and The Neurobiology of Disease in Children Young Investigator Award.

Presentation(s):

Send Email for Paldeep Atwal

Mahim Jain

Assistant Professor
Johns Hopkins University / Kennedy Krieger Institute,

Mahim Jain MD, PhD, is a member of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute, Assitant Professor, Department of Pediatrics, Johns Hopkins University, Clinical Director of the Statistical Genetics Program in the Medical Genetics Branch of NHGRI and Co-Lead of the Balor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group. Dr. Jain received his bachelor’s degree from The University of Notre Dame, graduating summa cum laude in biochemistry. He completed his medical school at Indiana University School of Medicine and completed a Ph.D. from The University of Oxford, focused on using statistical and computational methods to identify genetic variants that contribute to both rare and complex human traits. During that time he was a Howard-Hughes Medical Institute-National Institutes of Health Research Scholar and a National Institutes of Health-Oxford Biomedical Scholar. He completed his clinical residency at Baylor College of Medicine in the combined pediatrics and genetics residency program. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. He also gained skills in the evaluation of next-generation sequencing data and is currently the Co-lead of the Baylor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group.

Presentation(s):

Send Email for Mahim Jain

Maximilian Muenke

Senior Investigator
National Institutes of Health

Maximilian Muenke, MD, is the Chief of the Medical Genetics Branch at National Human Genome Research Institute and Director of the NIH Medical Genetics and Genomic Medicine Residency and Fellowship Programs.

Dr. Muenke earned his M.D. degree at the Free University of Berlin, Germany in 1979. After his residency in pediatrics at the Christian-Albrechts University in Kiel, Germany and a postdoctoral fellowship in human genetics at Yale University, he completed a clinical genetics fellowship at the Children's Hospital of Philadelphia. From 1990-2000, Dr. Muenke was on the faculty of the Children’s Hospital of Philadelphia and the Departments of Pediatrics and Genetics of the University of Pennsylvania, where he gained tenure in 1996.

Dr. Muenke came to the National Human Genome Research Institute as Chief of the Medical Genetics Branch in 2000. The focus of his laboratory’s research has been on the delineation and identification of underlying causes of craniofacial anomalies in humans: holoprosencephaly and other craniofacial anomalies, craniosynostosis syndromes including the most common one, Muenke syndrome. With the initial successes of gene identification for various monogenic craniofacial disorders and advances in technology his group studied more genetically complex disorders including 1) the most common malformation at birth, congenital cardiac anomalies, 2) the most common liver disease in children and adults, non-alcoholic fatty liver disease (NAFLD), and 3) the most common behavioral disorder of childhood, attention deficit hyperactivity disorder (ADHD).

In 2013, he became the Founding Editor-in-Chief of the Molecular Genetics and Genomic Medicine Journal. Since January 2017 he is the Editor-in-Chief of the American Journal of Medical Genetics Part A.

Dr. Muenke passionate about training the next generation of leaders in the field of genetics and genomic medicine. To date, has mentored over 200 trainees either in the Medical Genetics and Genomic Medicine program or his lab.

Presentation(s):

Send Email for Maximilian Muenke

Bernard Esquivel-Zavala

President
Latin America Personalized Medicine Association

Bernard Esquivel, MD,MS, MHA,is a specialist in Clinical Immunology and Allergies certified member of the American College of Allergy, Asthma and Immunology (ACAAI), as well as the European Academy of Allergy and Clinical Immunology (EAACI). He received his medical training at the National Autonomous University of Mexico (UNAM), followed by a Masters in Medical Genetics from the University of Valencia (Spain) and a Masters in Health Administration. He cofounded and has served as president of the Latin American Association for Personalized Medicine (ALAMP) since 2014. He established the first integral genetic services company in Mexico: Total Quality Medicine and in 2016 opened the first precision medicine clinic in Mexico, Genomedik.

Presentation(s):

Send Email for Bernard Esquivel-Zavala


Assets

4A - Genomic Case Review with the Experts
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5



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Send Email for Genomic Case Review with the Experts
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5