Pittsburgh, PA ~ July 18-19, 2008

Our 2008 conference was held in Pittsburgh, Pennsylvania. Our Host was Children’s Hospital of Pittsburgh.

For all of those who were unable to attend our conference this July, 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 60 FOD, 70 OAA) and we hope that our next conference in 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 deb@fodsupport.org).

I want to personally THANK Medical Doctors Vockley, Cohen, Kahler and Gropman and Lynne Wolfe, MS, PNP, ACNP, BC, Nicole Payne, RD, LDN, Melanie Gillingham, PhD, RD, Diana Pantalos, MS, RD, LD, Cate Walsh Vockley, MS, CGC, Don Chace, PhD, and Jana Monaco (PhD in parenting!) 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.

Some of the Speaker Presentations are large so give them time to load completely.

Our 2008 FOD Speakers and Joint FOD/OAA Speakers

Jerry Vockley, MD, PhD

University of Pittsburgh
Professor of Pediatrics, School of Medicine
Professor of Human Genetics, Graduate School of Public Health
Chief of Medical Genetics
Children’s Hospital of Pittsburgh of UPMC

Presentation: ‘Advances in recognition and treatment of acyl-CoA dehydrogenase deficiencies’Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut.

Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His lab has been responsible for identifying 8 new disorders in tha past several years and he has published nearly 100 scientific articles in peer review journals. He serves on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders and Genetic Diseases in Newborns and Children and the Pennsylvania State Newborn Technical Advisory Committee, and is currently the Chair of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism. He is immediate Past-President of the Society for the Inherited Metabolic Disorders, is the founder and editor of the North American Metabolic Academy established by the Society, and an associate editor for the journal Molecular Genetics and Metabolism.

Dr. Vockley was recognized in 2002 as the Research Educator of the Year while at the Mayo Clinic. At the University of Pittsburgh, Dr. Vockley teaches in the both the Medical School and Graduate School of Public Health. Dr. Vockley has mentored numerous Ph.D. candidates, post-doctoral fellows, and undergraduate in their research.

Bruce H. Cohen, MD

Neuroscience Institute
Brain Tumor and Neuro-Oncology Center
Pediatric Neurology Center
Cleveland Clinic

Presentation: ‘Mitochondrial Cytopothies’

Bruce Howard Cohen, MD, earned his undergraduate degree in 1978 from Washington University in St. Louis. He graduated summa cum laude with a degree in chemistry. He received his medical degree in 1982 from the Albert Einstein College of Medicine in Bronx, N.Y. Following his pediatrics residency at the Children’s Hospital of Philadelphia, he served as a resident-fellow at Columbia Presbyterian Medical Center in N.Y., where he specialized in pediatric neurology. He then went to the Children’s Hospital of Philadelphia as an American Cancer Society Fellow to serve a two-year fellowship in neuro-oncology. Dr. Cohen joined Cleveland Clinic’s Department of Neurology in 1989. He served as Chief of the Section of Pediatric Neurology between 1999 and 2002, with joint appointments in the Clinic’s Taussig Cancer Center, the Department of Neurosurgery and the Department of Pediatrics.

His specialty interests include adult and pediatric neuro-oncology, mitochondrial medicine, neurofibromatosis, neurometabolic diseases and pediatric neurology. He is board certified in both Pediatrics and Neurology, with Special Qualification in Child Neurology. He has served on a variety of committees for the Children’s Cancer Group, the American Academy of Neurology,  the Child Neurology Society, and also as Chair of the Infant Brain Tumor treatment study. He is an examiner for the American Board of Psychiatry and Neurology, and has been a fellow of the American Academy of Neurology since 1998. In 2008 he was elected to join the American Neurological Association. 

A frequent invited lecturer, Dr. Cohen has made numerous television and radio appearances, and has received awards from the American Society of Clinical Oncology, the American Cancer Society, the Peter Preuss Foundation, and other medical research organizations. He is a member of the Child Neurology Society, the American Academy of Neurology, the American Epilepsy Society, the Sigma Xi North American Scientific Society and the Alpha Omega Alpha fraternal organization. He is also an ad hoc reviewer for Annals of NeurologyNeurologyMedical and Pediatric OncologyMitochondrian, the Journal of Neuro-Oncology and Muscle and Nerve.

Dr. Cohen has been named to both Best Doctors in Ohio and Best Doctors in America since 1994. He also served on the board of trustees of the United Mitochondrial Disease Foundation from 1999 to 2006 and is now a member of their Scientific and Medical Advisory Board.

Lynne Wolfe, MS, PNP, ACNP, BC

Department of Genetics
Yale University School of Medicine
333 Cedar ST, WWW 305
New Haven, CT 06520-8005

Presentation: ‘Metabolic Processes in OAs and FODs’

Ms. Wolfe (Lynne) has been a nurse for over 25 years and a Metabolic Nurse Practitioner for nearly 15 years. As a staff nurse, she worked mostly in Pediatric Critical Care. Her Nurse Practitioner training was completed at the University of Rochester in New York where she earned her pediatric primary care degree and also her acute care degree. She has worked in rural New England, with Dr. Charles Roe at the Baylor University Institute for Metabolic Diseases in Dallas, Dr. Jerry Vockley in Medical Genetics at the Children’s Hospital of Pittsburgh. Currently she is working with Dr. Margretta Seashore at Yale. Ms. Wolfe is a great support to families of children with all types of Inborn Errors of Metabolism and Mitochondrial diseases with special interests in Newborn Screening and Fatty Acid Oxidation disorders.

Additional Info related to Lynne’s talk (get your biochem books out!):

Nicole Payne, RD, LDN

Metabolic Dietitian
Division of Medical Genetics
Children’s Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania

Presentation: Nutrition and Fatty Acid Oxidation Disorders

Nicole Payne, RD, LDN currently serves as a clinical dietitian at the Children’s Hospital of UPMC located in Pittsburgh, Pennsylvania (she now works at BioMarin). Ms. Payne received her Bachelor of Science degree in Nutrition from Pennsylvania State University in State College, Pennsylvania. She went on to complete her nutrition residency program for dietitians from The Family Health Council of Pittsburgh, Pennsylvania.

Nicole Payne’s work at The Children’s Hospital of Pittsburgh includes providing nutrition assessments, implementing and updating nutrition support plans, and education for infants, children, and adults with inborn errors of metabolism and genetic disorders. Ms. Payne has also co-authored abstracts on inherited metabolic disorders, is a co-investigator on several clinical trials, and is a current member of the Genetic Metabolic Dietitians International.

Diana Pantalos, MS, RD, LD

Weisskopf Center for the Evaluation of Children
University of Louisville
571 S. Floyd Street
Louisville, KY 40202

Presentation: ‘Cooking with MCT Oil’

Diana Pantalos, MS, RD, LD is a registered dietitian who has practiced as a pediatric nutritionist for more than 20 years. Her experiences in community, hospital, clinic, and home settings have given her a broad understanding of the complexity of child feeding and pediatric nutritional needs. At the University of Louisville’s Weisskopf Child Evaluation Center, Ms. Pantalos manages metabolic diets for children with genetic disorders, in addition to serving as the dietitian for the Feeding Disorders Program.

Diana has had an interest in fats for many years, particularly essential fatty acids. She met her first patient with a FOD in 2001 while working with Early Intervention, and in 2005 jumped at the chance to work at a metabolic center that treats children with fatty acid and other metabolic disorders. Her most recent project has been to create recipes and guidelines, posted online, which bring MCT oil “out of the pharmacy and into the kitchen.”

Diana has a M.S. in Human Nutrition from Ohio State University, and additional pediatric nutrition training from Indiana University. She is a member of Genetic and Metabolic Dietitians International and the American Dietetic Association.

Melanie B. Gillingham, PhD, RD

Assistant Professor
Molecular & Medical Genetics
Dietetics & Nutrition
Mail Code: FM10
3181 SW Sam Jackson Park Road
Portland, OR 97239

Presentation: ‘Exercise management & treatment:How much is too much? What supplements to take? Monitoring for Rhabdomyolysis’

Dr. Gillingham is a registered dietitian (RD) and has been investigating nutritional therapies for fatty acid oxidation disorder over the past 10 years. She is currently an assistant professor in the Molecular and Medical Genetics department at Oregon Health & Science University. Dr. Gillingham’s recent publication of exercise studies in subjects with LCHAD, and TFP deficiency was awarded the Emmanuel Shapira Award for best paper published by a member of the Society of Inherited Metabolic Diseases (SIMD) in Molecular and Medical Genetics. She has been working in collaboration with Dr. Dale Schoeller at the University of Wisconsin, Madison to use stable isotope tracer studies to measure in vivo fatty acid oxidation in these disorders. Her current funded studies include exploring high protein diets in subjects with VLCAD, TFP or LCHAD deficiency (K01 DK071869) and fasting studies in young children with CPT-1 deficiency (Oregon Clinical & Translational Research Institute (OCTRI) pilot grant).

Stephen Kahler, MD

Professor, Division of Clinical Genetics 
Department of Pediatrics
University of Arkansas for Medical Sciences

Presentation: ‘Update and Survey: 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.

Andrea Gropman, MD, FAAP, FACMG

Associate Professor of Neurology and Pediatrics
Department of Neurology
Children’s National Medical Center
111 Michigan Avenue, N.W.
Washington, D.C. 20010

Presentation: ‘Neurological Manifestations of FODs and OAs: Recognition, Monitoring, and Management’

Dr. Andrea Gropman is an associate professor of Neurology and Pediatrics at the George Washington Medical School and Health Sciences Center. She is also an attending neurologist at the Children’s National Medical Center in Washington, D.C. as well as a special expert/consultant in the Medical Genetics Branch at the National Human Genome Research Center at the National Institutes of Health, Bethesda, M.D.

She received a B.A. in biology and biochemistry from Brandeis University, and an M.D. from the University of Massachusetts Medical School where she received a Hewlett Packard Top Scholar Award. She subsequently trained in pediatrics at the Johns Hopkins Hospital in Baltimore, M.D., Neurology/Child Neurology at George Washington University and the Children’s National Medical Center in Washington, D.C., and Genetics at the National Institutes of Health. She is board certified in pediatrics, neurology with special competence in child neurology, developmental disabilities, genetics and board eligible in biochemical genetics.

She divides her time between clinical activities in neurology and genetics at both Children’s hospital and the NIH where she works on various metabolic protocols, including MMA with Dr. Chuck Venditti, teaching and research and serves on a number of scientific advisory committees and review groups both at the institutional, governmental, as well as national level. 

Cate Walsh Vockley, MS, GCG

Senior Genetic Counselor
Medical Genetics 
Children’s Hospital of Pittsburgh
Coordinator of Education, Referral and Advocacy
National Niemann-Pick Disease Foundation
3705 Fifth Avenue
Pittsburgh, PA 15213

Presentation: ‘Siblings of Children who have Chronic Illness or Disability: Pointers for Parents’

[All pictures were removed for privacy reasons]

I have been a genetic counselor for over 20 years and have worked in a variety of academic settings. My major areas of interest include inherited metabolic disorders, hereditary cancer conditions and ethical and psychological aspects of human genetics. I have been involved with the Niemann-Pick disease community for about 7 years, starting first with coordination of DNA testing for families at the Mayo Clinic. This work was supported by a grant from the Ara Parseghian Medical Research Foundation.

Several years ago, as my husband moved his laboratory and clinical practice to Children’s Hospital in Pittsburgh PA, I had an opportunity to change directions and focus more on providing support and resources for patients and families. I am pleased to continue my relationship with the National Niemann-Pick Disease Foundation as Coordinator of Education, Referral and Advocacy from my office at Children’s Hospital. I am also the current Chair of the National Society of Genetic Counselors Ethics Advisory Group and will serve a 3-year term on the American Board of Genetic Counselors Certification Examination Committee starting in the fall.

While with the NNPDF, I have developed educational material on care for the caregiver, teen transitions, grief support and dealing with a new diagnosis, among others. Much of this information is applicable to other chronic illnesses and is available on the NNPDF web site at www.nnpdf.org. I have also developed numerous programs including a rare disease middle and high school curriculum supplement and an equipment exchange program.

Donald H. Chace, PhD, MSFS, FACB

Laboratory Director, Pediatrix Analytical 
The Pediatrix Center for Research and Education
Pediatrix Medical Group
Adjunct Assistant Professor in Pediatrics
University of Pittsburgh
Rangos Research Building
Room 2113  
3460  Fifth Avenue, Pittsburgh, PA 15213

Presentation: ‘Newborn Screening and Beyond’

Dr. Chace received a BS degree in Chemistry from Boston College in 1981. This was followed by two degrees from The George Washington University, a Master of Science in Forensic Science in 1984 and a Ph.D. in Pharmacology in 1989. Experience with mass spectrometry and drug metabolism was obtained during his doctoral studies where he developed and applied a novel reaction interface / mass spectrometric technique to the selective detection of 13C, 14C, 15N, 2H- labeled drugs and their metabolites. Experience in mass spectrometry and analysis of biomarkers was continued during his postdoctoral research at University of Maryland at Baltimore, Department of Biomedicinal Chemistry during 1989-1990.

Dr. Chace joined the pediatrics research faculty at Duke University Medical Center in 1990 as assistant medical research professor in the division of biochemical genetics. He became assistant director of the MS facility within the division and program director for newborn screening. There he applied developed with colleagues the analysis of amino acids and acylcarnitines in dried blood spots using MS/MS. He began his collaboration with the CDC Newborn Screening QA/QC program to develop blood spot standards for newborn screening in 1994. In 1997, Dr. Chace joined Neo Gen Screening as the section chief for the division of Bio-Analytical Chemistry and Mass Spectrometry at Neo Gen Screening. It is here that Dr. Chace developed a more robust, higher volume application of MS/MS in newborn screening to analyze hundreds of thousands of specimens per year including automated interpretation programs.

Further he extended to applications to autopsy screening of unexplained infant deaths and in collaboration with Sigma Tau pharmaceuticals, a free carnitine assay for patients undergoing dialysis. 3 patents have been issued with regard to developments at Neo Gen Screening. In 2003, Dr. Chace joined the The Pediatrix Center for Research and Education of the Pediatrix Medical group as Laboratory Director of Pediatrix Analytical, an analytical research laboratory focused on developing new clinical MS methods in intermediary metabolism. Most recently, Dr. Chace has developed a thyroxine method using MS/MS, an assay for very long chain acylcarnitines and improved the new succinylacetone analysis. More recent work included using MS/MS analysis of amino acids and acylcarnitines in infants as part of a clinical trial examining the practice of administration of TPN and the impact on blood amino acids and acylcarnitines.

Dr. Chace serves on various committees including the publication committee for ASMS and a consultant for the HRSA laboratory subcommittee on newborns screening and has published a guideline on MS in the clinical lab with CLSI (Clinical Lab Standards Institute). Currently Dr. Chace is developing a new core laboratory for metabolic research that goes beyond newborn screening and includes premature infants, pregnant mothers, children adolescents and adults using a screening system called the Metabolic Checkup. Areas of diet and nutrition and their role in maintaining or restoring normal metabolism will be a key focus. Dr. Chace is the inventor on at least 4 patents in areas of newborn screening and metabolism.

Jana Monaco

OAA Parent and NBS Advocate

Presentation: ‘A Parent’s Perspective on NBS’

Jana Monaco is the mother of four children including two with Isovaleric Acidemia. Her son Stephen has severe neurological impairment and complex health issues due to late diagnosis and Caroline who is developing normally, since she benefited from early detection and intervention.

She is on the Organic Acidemia Association Board of Directors providing support, information, education and networking to families with children affected with inborn errors of metabolism. An advocate for Newborn Screening, she is an appointed member of the Heritable Disorders and Genetic Diseases in Newborns and Children Advisory Committee as well as the New York Mid-Atlantic Regional Collaborative  Advisory Committee. Jana also devotes her time as a Family Faculty Member of the (LEND) Leadership Education in Neurodevelopmental Disabilities Program of the Children’s National Medical Center in Washington, DC a long with the Patient /Family Advisory Council. She has worked with the Virginia Genetics Advisory Committee and supported legislation for expanded newborn screening which was implemented in the State of Virginia on 1 March 2006. She is published in Exceptional Parent Magazine, “My Poster Family” and has appeared in several media interviews to include The Wall Street Journal, Newsweek Magazine, The Potomac News, CBS News, NBC News, Ivanhoe Broadcasting and ABC World News.

She and her family have also been featured in NORD’s newsletter, annual report and recent 25th Anniversary video tribute. Jana had the recent privilege of speaking at the renaming ceremony of the National Institute for Child Health and Human Development in honor of Mrs. Eunice Kennedy Shriver. She is the recipient of the Prince William County Board of Supervisor’s Commendation and the Maternal and Child Health Bureau Director’s Award. She resides in Northern Virginia with her husband and children. 

THANK YOU also to The Children’s Hospital of Pittsburgh for being our main sponsor for the Conference! We learned a great deal about FODs and Newborn Screening, as well as having a great time networking with other Families and Professionals. Hope to see you again in 2010!

Slide from 2008 FOD/OAA conference

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