Functional Genomics: Rare/Undiagnosed Disease; Patient Care; Clinical Genomics; Outcomes; Cases

3D - Functional Genomics: Inborn Errors of Metabolism in Adult Medicine Clinics
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

Tuesday, October 10
10:15 AM - 11:45 AM

A discussion of inherited metabolic diseases and their various presentations in adult patients. These diseases may often be difficult to diagnose, but may have important therapeutic implications. Topics will include the various diagnostic tools at our disposal as well as important therapeutic considerations.

Learning Objectives:

Brendan Lanpher

Assistant Professor of Medical Genetics
Mayo Clinic

Brendan Lanpher, MD, is a physician in the Department of Clinical Genomics at the Mayo Clinic in Rochester, MN. Brendan is an Assistant Professor in the College of Medicine. Clinical interests include inborn errors of metabolism and dysmorphic syndromes. Brendan has been a clinical geneticist for 10 years and has been on the faculty at the Mayo Clinic for one year. He has been active in overseeing newborn screening activities in multiple states and as an advisor to newborn screening programs internationally.

Presentation(s):

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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):

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Erin Conboy

Fellow, Biochemical Genetics
Mayo Clinic

Erin Conboy, MD, is a biochemical genetics fellow, training at Mayo Clinic. She has completed her pediatric and medical genetics residency at Mayo Clinic and has a specific interest in treating children with inborn errors of metabolism. Dr. Conboy’s clinical and research interests are diverse. During her Medical Genetics residency, she was part of a team that collaborates at Mayo Clinic, called the Genomic Odyssey Board. The Genomic Odyssey Board is a multidisciplinary team of clinical and laboratory geneticists, genetic counselors, referring physicians, and researchers that work together to analyze whole-exome data for diagnostic odyssey patients. Dr. Conboy has published and is working on current research projects that have come from this collaboration. The team has described a patient with a pathogenic variant in ACTB causing a slightly different set of symptoms compared to the patients previously reported, including refractory dystonia, hearing loss, and developmental delay. The team is in the midst of writing up a case of acute onset liver failure caused by compound heterozygous mutations in a gene never before associated with liver disease. Additionally, the team will report a patient with unique presenting signs and symptoms found to be affected by a rare disorder known as HMG CoA Synthase deficiency.

Presentation(s):

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Assets

3D - Functional Genomics: Inborn Errors of Metabolism in Adult Medicine Clinics
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 Functional Genomics: Inborn Errors of Metabolism in Adult Medicine Clinics
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5