Dallas, TX ~ June 23-24, 2006
Our 2006 conference was held in Dallas, Texas. Our Host was the Institute of Metabolic Disease, Baylor Healthcare System.
For all of those who were unable to attend our conference this past June, we are posting the PowerPoint slides (converted to PDF* for easier viewing) from our Speaker presentations, as well as brief professional biographies.
Our turnout again this year was great (about 55 FOD, 50 OAA) and we hope that our next conference in approximately 2 years will have an even larger attendance! We will let you know if we are successful at finding a major sponsor to help us offer another great Conference. Your suggestions for location, speakers, and topics are always appreciated (email to firstname.lastname@example.org).
I want to personally THANK Medical Doctors Roe, Gibson, Rhead, Siskin, and Kahler and Barb Marriage, PhD, Jennifer Sloan, PhD, and Brad Therrell, PhD for sharing their expertise and knowledge of FODs and related family and newborn screening issues. Families came away from this conference with ALOT to think about, as well as having the opportunity to connect with other families dealing with many similar issues.
Our 2006 FOD Speakers and Joint FOD/OAA Speakers
Charles Roe, MD
Institute of Metabolic Disease
TOPIC: ‘New Concepts & Alternative Therapies In Inborn Errors of Metabolism’ and ‘Carnitine Issues and Metabolic Disorders’
Dr. Roe’s primary research interest is in the field of inherited metabolic defects involving mitochondria fat oxidation and branched-chain amino acid degradation. He was trained at Duke University Medical Center, where he obtained his M.D. degree and completed both his residency in pediatrics and a fellowship in metabolic disease. Dr. Roe received two additional years of training in the Department of Biochemistry at Brandies University. During his fellowship training, he developed the creatine kinase MB enzyme test for the recognition of acute heart attacks. This method became a gold standard for diagnosis worldwide. He applied this methodology to the design of treatment strategies that could protect the heart from injury during cardiac surgery. For these accomplishments, he was awarded the title of Fellow, American College of Cardiology.
Subsequently, as the Chief of the Division of Genetics and Metabolism at Duke Medical Center, he created its first major mass spectrometry facility in pediatrics. He became internationally recognized for his role in the development of tandem mass spectrometry analysis of acylcarnitines and for his descriptions of new genetic disorders. As a clinical investigator, his contributions focused on nutritional approaches to inherited diseases, development of new diagnostic technology, and development of new treatment strategies. He is generally regarded as a world expert in the field of mitochondria fat oxidation disorders. Finally, with his many American, European, and Asian colleagues, he is developing a unique program at Baylor that includes active collaborative investigations and training at the Institute. Dr. Roe, the Medical Director of the IMD at BUMC, specializes in disorders affecting the breakdown of fatty acids and amino acids. His research has produced a system in which the entire pathway involving many enzymes can be studied in living cells to determine which enzymes are defective. This system, which has essentially replaced the need for individual enzyme assays for many of the disorders, has produced excellent applications for diagnosis before or after birth and has been applied successfully in characterizing previously unknown inherited defects. Children with these disorders often exhibit decreases in blood sugar, cardiomyopathy, hypertonia, or any combination of these presenting symptoms.
His research, using the same system, determines other pathways available for more normal metabolism, to allow successful nutrition and clinical management. Dr. Roe’s research has demonstrated that certain nutrients thought to be especially useful for premature infants and children affected with inherited disorders are not optimal and has led to the discovery of substitutes to support these children more efficiently. This remarkable treatment strategy is designed to circumvent the inherited block in the pathway. Sponsorship is being sought for the development of a new “orphan” product to benefit children with inherited disorders as well as to provide improved management of premature infants.
Barb Marriage, PhD, RD
TOPIC: ‘Chewing the Fat on the Nutritional Management of FODs’
Barbara Marriage received a BSc in Applied Human Nutrition in 1978 from the University of Guelph, Ontario. She received her Masters in Nutrition in 1987 and a PhD in 2002 from the University of Alberta. She has worked as a dietitian since 1979 with most of her dietetic career involved in the nutritional management of inborn errors of metabolism. In addition to her clinical responsibilities, Dr Marriage lectured at the University of Alberta on nutrition management in various disease states including inborn errors of metabolism, as well as nutritional requirements in exercise and athletic competition.
Dr Marriage has been active in numerous research studies and has published in peer-reviewed journals, books, and newsletters in addition to her many oral presentations in the metabolic nutrition area. In 2002, she accepted a position with Ross Products Division and is presently the Medical Director for the Metabolic Program. In addition to her other duties, she acts as consultant and educator to customers concerning nutrition management of inherited metabolic disorders.
Jennifer Sloan, PhD, MS, GCG
National Human Genome Research Institute
National Institutes of Health
Protocol Coordinator & Genetic Counselor
TOPIC: ‘Genetic Counseling Issues in Metabolic Disorders’
Dr Sloan is currently working at the National Human Genome Research Institute (NHGRI) as the genetic counselor and protocol coordinator for the methylmalonic acidemia (MMA) and related disorders study with Dr. Venditti. She received her bachelor of science in Biology from Penn State University and went on to do graduate training in Neurobiology, completing a PhD in 2002. Dr. Sloan was interested in pursuing more clinically relevant work, which led her to pursue a Master’s program in genetic counseling shortly after finishing her doctoral dissertation. She received a M.S. in Genetic Counseling from Northwestern University in 2004 and has been at the NHGRI since that time.
Dr. Sloan became a board-certified genetic counselor in 2005. She is interested in genetic counseling issues in metabolic disorders and transplantation in MMA.
James Gibson, MD, PhD
University of TX Health Science Center
TOPIC: ‘Navigating the Medical System’
Dr Gibson is a clinical biochemical geneticist who cares for and coordinates medical care of individuals with inborn errors of metabolism that are living in the western half of Texas. While he has directed a clinical laboratory service in the past, his present job does not encompass those responsibilities. He is presently a Clinical Associate Professor of Pediatrics at the University of Texas Health Science Center at San Antonio.
He received both his MD and PhD from Duke University and did his residency in Pediatrics and a fellowship in Metabolism at Children’s Hospital of Philadelphia. Prior academic/clinical positions have been at the University of Pennsylvania/CHOP and the University of Arkansas for Medical Sciences. Dr Gibson has over 20 peer-reviewed papers on basic (laboratory) science or clinical care relating to inborn errors of metabolism and has written 5 book chapters as topic reviews.
William J. Rhead, MD, PhD
Children’s Hospital of Wisconsin
TOPIC: ‘SCAD and GAII: Truths and Confusions’
William J. Rhead, MD, PhD is presently Medical Director in Genetics at the Children’s Hospital of Wisconsin and Professor in Pediatrics and Pathology at the Medical College of Wisconsin. Dr Rhead earned his Medical degree, as well as his Doctorate from the University of California at San Diego in 1974. Before coming to Wisconsin, Dr Rhead had Clinical and Faculty positions at the University of Iowa from 1979-2000. He has Certifications in Pediatrics and Human Genetics (Clinical Genetics and Clinical Biochemical Genetics).
In 1983, Dr Rhead was awarded the Noel Raine Prize from the Society for the Study of Inborn Errors of Metabolism and a Best Doctors in America award in 1992, 1994, 1998, and 2003. His research interests include human fatty acid oxidation disease, mitochondrial disease, and newborn screening. He has published many articles over the years in well-respected and refereed Pediatric, Metabolic, Genetics, Biological Chemistry, and Neurology journals.
Dr Gary Siskin, MD, Radiologist
Albany (NY) Medical Center and SCAD Dad
TOPIC: ‘Tubes and Lines’ [indications for use of g/gj tubes, PICC lines, ports, Hickman catheters etc; techniques of placement, potential issues with the tubes/lines, skin care etc; and solutions for these issues]
Dr. Gary Siskin is presently Professor and Chairman of Radiology and Director of Interventional Radiology at the Albany Medical Center in Albany, New York. He received his MD degree at the Mount Sinai School of Medicine in New York and completed his radiology training at Downstate Medical Center in Brooklyn, NY and a fellowship in interventional radiology at Columbia Presbyterian Medical Center in New York City. Dr. Siskin and his wife Robin have lived in Albany for 10 years and have four children: Jordan (age 14), Matthew (age 12), Jake (age 9), who was diagnosed with SCAD at age 1, and Ava (4 months). Dr. Siskin has published extensively on a wide variety of topics including the uterine fibroid embolization procedure and clinical management of patients undergoing interventional radiology procedures.
His practice includes performance of a number of procedures including angiograms, angioplasty and stent placement procedures, embolization, radiofrequency ablation and other procedures to treat advanced cancer, placement of feeding tubes, drainage catheters, and venous access devices (including PICC lines, Hickman catheters, Dialysis catheters, and ports), and treatment of patients with varicose veins.
He is the primary interventionalist within the Children’s Hospital at Albany Medical Center and is therefore responsible for performing these and other procedures on pediatric patients. He is an active member of the Society of Interventional Radiology, holding national leadership positions and running many of the teaching programs at the Society’s annual national meeting.
Stephen Kahler, MD
University of Arkansas for Medical Sciences
TOPIC: ‘The Autism Connection in Inborn Errors of Metabolism’
Dr. Kahler received his MD degree from Duke, trained in Pediatrics at UCSD (where he learned about inborn errors from Dr. Bill Nyhan), then trained in clinical and biochemical genetics at UNC-Chapel Hill. Throughout his career he has been a clinician-educator, seeing patients and teaching, but he has always had strong affiliations with research physicians and scientists. He worked at Duke from 1983-1997, in the division of Genetics and Metabolism directed by Dr. Roe. He was part of the team there that developed what is now called expanded newborn screening, with funding obtained from the state of North Carolina.
He moved to Melbourne, Australia to direct the Victorian Clinical Genetic Services in 1998, returned to the US (Johns Hopkins) in 2003, and moved to Arkansas in 2005, where he succeeded Dr. Gibson. He has served on newborn screening advisory committees in five states. He has been interested in autism for many years, particularly the children who are responsive to diet changes, as they are similar in this way to children with defined inborn metabolic errors. In Arkansas he is working closely with Jill James, PhD, on biochemical aspects of autism, particularly involving vitamin B12, folate, and glutathione.
He has written many articles and book chapters, and is co-author of the Handbook of Inherited Metabolic Diseases, with Georg Hoffman, Johannes Zschocke, William Nyhan, and Ertan Mayatepek. (He points out that he has strong connections with other speakers, in addition to Dr. Roe. He first met Dr. Rhead in 1973 in San Diego, and later worked with him at UNC, and he has known Dr. Gibson since the latter was a student at Duke).
Brad Therrell, PhD
National Newborn Screening and Genetics Resource Center
TOPIC: ‘The World of Newborn Screening’
Bradford Therrell, Jr., PhD is the director of the U.S. National Newborn Screening and Genetics Resource Center (NNSGRC) in Austin, Texas USA and a professor in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio. He is the author of over 125 publications, several monographs and several book chapters on various aspects of newborn screening.
Prior to assuming the directorship of the NNSGRC in 1999, Dr. Therrell worked for almost 30 years at the Texas Department of Health Bureau of Laboratories where he was director of Chemistry, with management responsibilities for newborn screening and other biochemical screening programs. He received a B.S. degree in chemistry from Mississippi College and M.S. and Ph.D. degrees in inorganic chemistry from Florida State University.
In 1997 he was awarded an honorary M.D. degree from Kunming Medical College in Kunming, China for his contributions to Sino-America efforts towards improving health outcomes in newborns. In 2000, Dr. Therrell received the Bob Guthrie Award from the International Society for Neonatal Screening “in worldwide recognition of outstanding contributions in newborn screening.”
THANK YOU also to Dr Roe, Dr Sweetman and the entire staff at the Institute of Metabolic Disease for the wonderful Tour of the Institute. We learned a great deal about how Expanded Newborn Screening and Diagnostic Testing for FODs and various other metabolic disorders are done for Families around the world!