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Video Presentations

Southeast Regional Genetics Network is proud to offer the following videos, presentations and lectures free of charge.    For more information on these videos and other training opportunities, please use our contact page.

Videos, Lectures and Presentations  
 Project ECHO “The democratization of medical knowledge
Matt Hawkins MD
SERC Lunch and Learn #12
Atlanta, GA
October 18th, 2017

 CRISPRs & Gene Editing: Laboratory Use & Clinical Future
Robert Kesterson PhD
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 22nd, 2017

 The Current Status of Direct-to-Consumer Genetic Testing
Emily Lisi
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 22nd, 2017

 Precision Medicine for the Right Drug at the Right Dose on the First Time
Cindy Vnencak-Jones PhD
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 21st, 2017

 Vision for Telemedicine
Elizabeth Krupinski PhD
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 20th, 2017

 Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism
Kirk Pappan PhD
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 20th, 2017

 Newborn Screening for Pompe Disease: Lessons Learned from New York
Amy Yang MD
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 20th, 2017

 State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders
Meg Comeau
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 20th, 2017

 New Gene Discovery and Other Insights from Diagnostic Evaluations in the Undiagnosed Diseases Network
Loren Pena
SERN/SERGG 2017 Annual Conference
Asheville, NC
July 20th, 2017

 The Longitudinal Pediatric Data Resource: Accelerating New Knowledge Discovery and Public Health Surveillance in Genetic Disorders Identified Through Newborn Screening.
Amy Brower PhD
SERC Lunch and Learn #11
Atlanta, GA
April 5th, 2017

 Krabbe Disease: 100 Years from the Bedside to the Bench and Back to the Bedside
David Wenger
Forth Annual Paul M. Fernhoff Memorial Lecture
Atlanta, GA
September 21st, 2016

 Whole Genome Sequencing – It’s Time Has Arrived
David Bick MD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 16th, 2016

 Finding Pearls in a Sea of Skeletal Dysplasias
Curtis Rogers MD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 16th, 2016

 Clinical Metabolomic Profiling
Paldeep Atwal
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 16th, 2016

 LTDs and the FDA
Michael Watson PhD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 15th, 2016

 Carnitine and Fatty Acid Oxidation
Nicola Longo PhD, MD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 15th, 2016

 ATP6AP1 Deficiency Causes Liver Disease and Immunodeficiency, Neurologic Symptoms and Abnormal Protein Glycosylation
Eva Morava PhD, MD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 15th, 2016

 Considering Newborn Screening for X-linked Adrenoleukodystrophy
Alex Kemper MD, MS
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 14th, 2016

 Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs
Victor DeJesus PhD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 14th, 2016

 Newborn Screening for GAMT Deficiency: The Utah Experience
Marzia Pasquali
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 14th, 2016

 Metabolomics for the Screening and Diagnosis of Rare Disease
Sarah Elsea PhD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 14th, 2016

 RSSM Regional Collaborative Models
Celia Kaye PhD, MD
2016 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 14th, 2016

 MPS I disease: phenotypes and considerations for newborn screening
Stephanie Cagle
SERC Lunch and Learn #10
Atlanta, GA
May 18th, 2016

 Pompe Disease: Newborn Screening Initiative in the US
Stephanie DeArmey
SERC Lunch and Learn #9
Atlanta, GA
October 21st, 2015

 A Miraculous New Era for Cystic Fibrosis: Impact of Molecular Screening and Therapy.
Philip Farrell PhD, MD
Third annual Paul M. Fernhoff Memorial Lecture
Atlanta, GA
September 17th, 2015

 Modeling Structural Defects in Neonates and Young Children
Nicholas Katsanis PhD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2015

 Diagnosing Creatine Deficiency Syndromes
Sarah Young PhD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2015

 Challenges in Interpretation & Explanation of Exome Sequencing
Kristy Lee MS
2015 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2015

 Nutritional Interventions in Mitochondrial Disorders
Barbara Marriage PhD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 17th, 2015

 Our Microbiome: Gaining Genomes as We Grow Up
Patrick Seed PhD, MD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 17th, 2015

 Updates from the Genetic Services Branch MCHB
Joan Scott MS
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 SERC/GMDI New PKU Nutrition Management Guidelines
Amy Cunningham MS
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience
Andrea Atherton MS
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 Genomics and Newborn Screening
Cynthia Powell MD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 Pompe Roundtable Discussion
William Wilcox PhD, MD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory
Deeksha Bali PhD
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 Newborn Screening for MPS I:  Evidence and Rationale
Alex Kemper MD, MS
2015 SERC-SERGG Annual Conference
Asheville, NC
July 16th, 2015

 The Telemedicine Experience
David Flannery MD
SERC Lunch and Learn #8 (1 of 2)
Atlanta, GA
January 28th, 2015

 The Telemedicine Experience - Companion Demonstration
David Flannery MD
SERC Lunch and Learn #8 (2 of 2)
Atlanta, GA
January 28th, 2015

 Diagnosing the Previously Undiagnosable through Genomic Medicine
Carol Saunders PhD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 19th, 2014

 Integrating Next-generation Sequencing and Microarray Technologies for a More Comprehensive Analysis in Autism Patients
Lucas Bronicki PhD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 19th, 2014

 The Clinical and Molecular Complexity of Split-hand/foot Malformation
David Everman MD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 19th, 2014

 Newborn Screening in the Genomic Era
Olaf Bodamer PhD, MD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 18th, 2014

 Defining Manibi Deficiency
Eva Morava PhD, MD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 18th, 2014

 Genetics Clinic in the 21st Century
Pamela Arn MD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 18th, 2014

 National Coordinating Center (NCC) Update
Michael Watson PhD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 Updates from the Genetic Services Branch, MCHB
Joan Scott MS
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 The LEND Network: Translational Possibilities
Stephen Hooper PhD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines
Hans Andersson MD
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 Recommendations for the Nutrition Management of Phenylalanine Hydroxylase Deficiency
Amy Cunningham MS
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 The Challenge of Integrating Genetics Into Primary Care Pediatrics - Can We Get the Camel Through the Eye of the Needle?
Beth Tarini MD, MS
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 FloridaHATS: Building Bridges from Pediatric to Adult Care
Janet Hess DrPH
2014 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 17th, 2014

 Skeletal Dysplasia: Overview and Emerging Therapies
Michael Bober PhD, MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 20th, 2013

 Navigating uncertainty and unexpected findings in whole genome array testing: A discussion of interpretation and reporting strategies
Hutton Kearney PhD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 20th, 2013

 Clinical Whole Exome Sequencing For the Evaluation of Genetic Disorders
Christine Eng MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 19th, 2013

 New developments in therapy for glycogen storage disease
Dwight Koeberl PhD, MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 19th, 2013

 Developing a genomic medicine program
Bruce Korf PhD, MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 19th, 2013

 Update on Activities of the Secretary's (Discretionary) Advisory Committee on Heritable Disorders in Newborns and Children
Joseph Bocchini PhD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Telegenetics in SERC
Hans Andersson MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Update on Telemedicine in the SERGG States
David Flannery MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Overcoming Barriers to Implementing Telegenetic Services
Rena Brewer MA
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 The SACHDNC Approach to Considering Conditions for Newborn Screening
Alex Kemper MD, MS
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 The Affordable Care Act: Implications for Newborn Screening and Children with Genetic Conditions
Meg Comeau
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 NewSTEPs: Newborn Screening Technical assistance and Evaluation Program
Marci Sontag PhD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Genetic Counseling in the Age of Genomics
Catherine Wicklund MS
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Lysosomal Storage Diseases: A Pilot NBS and Examination of the Associated Ethical, Legal and Social Issues
Melissa Wasserstein MD
2013 SERC-SERGG Annual Conference
Asheville, NC
July 18th, 2013

 Evolution, Individuality, and Disease
Cornelius Boerkoel PhD, MD
SERC Lunch and Learn #6
Atlanta, GA
June 10th, 2013

 The future of genomic prediction of common diseases: big data, better prediction?
A. Cecile J.W. Janssens PhD
SERC Lunch and Learn #7
Atlanta, GA
May 23rd, 2013

 Routine Second Testing in Newborn Screening for Hypothyroidism and Congenital Adrenal Hyperplasia: Is One Screening Test Sufficient?
Stuart Shapira PhD, MD
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 21st, 2012

 Enhancing Knowledge and Improving Patient Care for Rare Genetic Diseases: Engagement of families, clinicians and clinical labortories
David Ledbetter PhD
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 20th, 2012

 Understanding Autism Spectrum Disorders (ASD): GGC's Piece of the Puzzle
Julie Jones PhD
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 20th, 2012

 Genetic Risk Profiling for Prediction of Common Diseases
Cecelia Bellcross PhD, MS
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 20th, 2012

 Newborn Screening for Critical Congenital Heart Disease
Cynthia Hinton PhD, MS
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 19th, 2012

 Transition to Adult Health Care
Sandra Sirrs MD
2012 SERC-SERGG Annual Conference
Ponte Vedra Beach, FL
July 19th, 2012

 The Exciting World of Genetics in India - From Clinical to Chromosomes, and Metabolic to Molecular
Ishwar C. Verma
SERC Lunch and Learn #5
Atlanta, GA
May 23rd, 2012

 Cystic fibrosis NBS Intended and Unintended Consequences
Michael Schechter MD
SERC Lunch and Learn #4
Atlanta, GA
April 5th, 2012

 The Art of Choosing
Sheena Iyengar PhD
Special Dinner Presentation
Norcross, GA
March 9th, 2012

 The Scientific Foundation for Using Personal Genomics to Improve Health and Prevent Disease
Muin Khoury PhD, MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 23rd, 2011

 Newborn Screening Severe Combined Immunodeficiency T Cell Lymphopenia
Lisa Kobrynski MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 23rd, 2011

 Training and Education of Clinical and Laboratory Geneticists
Bruce Korf PhD, MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 22nd, 2011

 Researching Genetic Diseases in Puerto Rico
Pedro Juan Santiago Borrero MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 22nd, 2011

 Genomic and Personalized Medicine: Foundations to Applications
Geoffrey Ginsburg PhD, MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 22nd, 2011

 Collaborative Care among Specialists, Families, and the Primary Care Medical Home for Children with Genetic Conditions
Carl Cooley MD
2011 SERC-SERGG Annual Conference
Asheville, NC
July 21st, 2011

 How to Build Useful Ontologies for Clinical and Translational Research
Barry Smith PhD
How to Build a Biomedical Ontology Tutorial
Atlanta, GA
June 29th, 2011

 Basic Building Blocks for Biomedical Ontologies
Barry Smith PhD
How to Build a Biomedical Ontology Tutorial
Atlanta, GA
June 29th, 2011

 Telegenetics in Region 3 (SERC): Past Successes and Plans for the Future
Hans Andersson MD
SERC Lunch and Learn #3
Atlanta, GA
June 23rd, 2011

 Genetic Telemedicine from the Medical College of Georgia / Georgia Health Sciences University: 1995 to the Present
David Flannery MD
SERC Lunch and Learn #3
Atlanta, GA
June 23rd, 2011

 Implementation of Newborn Screening for SCID
Carla Cuthbert PhD
SERC Lunch and Learn #2
Atlanta, GA
February 10th, 2011

 Newborn Screening for VLCAD and GA1 in South Carolina
Tim Wood PhD
Lunch and Learn - October 2010
Atlanta, GA
October 7th, 2010

 Issues in Genetic Testing in Navajo Populations
Murray Brilliant PhD
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 24th, 2010

 Clinical Application of Microarray Technology on Hematological Malignancies and Solid Tumor: The CCMC Experience
Marilyn Li MD
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 24th, 2010

 ISCA (International Standards for Cytogenomic Arrays)
David Ledbetter PhD
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 24th, 2010

 Genetic Evaluation of Short Stature
Mira Irons MD
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 23rd, 2010

 What's New in Newborn Screening - July 2010
Bradford Therell PhD, MS
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 23rd, 2010

 The Importance of Standardization of Language and Coding for Newborn Screening
Alan Zuckerman MD
2010 SERGG Annual Meeting
Ponte Vedra Beach, FL
July 22nd, 2010

 New developments with fatty acid oxidation defects
Michael Bennett PhD
Emory Grand Rounds
Philadelphia, PA
March 1st, 2010

 The NIH Undiagnosed Diseases Program
William Gahl PhD, MD
Emory Grand Rounds
Atlanta, GA
February 1st, 2010

 Update on Congenital Disorders of Glycosylation
Eva Morava PhD, MD
Tulane Grand Rounds
Metairie, LA
October 30th, 2009

 Copy Number Variation in Autism Spectrum Disorders
Christa Martin PhD
2009 SERGG Annual Conference
Asheville, NC
August 8th, 2009

 The Interactive Autism Network (IAN)
Paul Law MD
2009 SERGG Annual Conference
Asheville, NC
August 8th, 2009

 Clinical Genetic Assessment of the Etiology of Autism
Gerald Schaefer MD
2009 SERGG Annual Conference
Asheville, NC
August 8th, 2009

 The Challenges and Approaches to the Treatment of Peroxisome Assembly Diseases
Nancy Braverman MD, MSc
Grand Rounds
Atlanta, GA
January 26th, 2009

 Reliable newborn metabolic screening of NICU infants is difficult!
Judy Tuerck MS
Grand Rounds
Atlanta, GA
December 15th, 2008

 
SERN Highlights
April 2018

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
 
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
 
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
 
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
 
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
 
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
 
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
 
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
 
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JELILI OJODU, MPH | Director, Newborn Screening and Genetics
Association of Public Health Laboratories | Analysis. Answers. Action.
P +1 240.485.2772 | F +1 240.485.2700 | jelili.ojodu@aphl.org
 
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