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For all of those that were unable to attend
our Conference this past October, we have provided either summaries,
handouts, or powerpoint slides (Please note ~ some of the slide
presentations are large files and may take several minutes to open)
from our Speaker presentations, as well as brief professional biographies.
Our turnout this year was great and we hope that our
next Conference in approximately 18 months will have an even larger
attendance!
I want to personally THANK Drs Roe, Korson and
Winter, and Lynne Wolfe and Cris Trahms for sharing their expertise
and knowledge of FODs and related family 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. It was definitely a WIN~WIN situation for all!
Mark Korson, MD
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 Conference
Talk
The Physiology of Fasting
and Fatty Acid Oxidation Defects (PDF*) |
Dr. Korson
obtained his medical school degree at the University of Toronto in
1982. He completed a pediatric residency at The Hospital for Sick
Children in Toronto, followed by a fellowship in genetics and metabolism
at Children's Hospital in Boston. He was director of the Metabolism
Clinic at Children's Hospital from 1990-2000. Currently, he is Associate
Chief of Metabolism at Tufts-New England Medical Center, and Associate
Professor of Pediatrics at Tufts University School of Medicine. Dr.
Korson's clinical interests include exploration of the clinical, biochemical
and molecular aspects of the inborn errors of metabolism, creating
mechanisms in the community for health care maintenance for these
patients (especially long distance care), and developing teaching
methods for training physicians, residents and medical students about
genetic metabolic diseases.
Charles
R. Roe, MD
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, hypotonia, 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.
Cris
Trahms, MS, RD, CD, FADA
Cris is a Lecturer in the Division of Genetics
and Development of the Department of Pediatrics at the University
of Washington in Seattle. She is also Director of Nutrition Services
at the Center on Human Development and Disability and Program Director
of the PKU Clinical Program. She is an Inaugural Fellow of the American
Dietetic Association and the recipient of the 2001 American Dietetic
Association Award for Excellence in the Practice of Clinical Nutrition.
Cris has many publications. She is the editor/author of Cristine M
Trahms and Peggy L Pipes, Nutrition In Infancy and Childhood,
6th edition, WCB/McGraw-Hill, 1997. Recent articles include: Sarah
N Letos, Cristine M Trahms, Betty Lucas, and Judith A Powell
wrote 'Maternal and child health nutrition training builds leadership
skills' which appeared in the Journal of the American Dietetic
Association in May 2001. This article describes the outcome measures
for the long-term interdisciplinary nutrition-training program at
the CHDD. Gail M Kieckhefer and Cristine M Trahms wrote 'Supporting
development of children with chronic conditions: From compliance toward
shared management' which appeared in Pediatric Nursing in August
2000. This article has been selected as the winner of the Pediatric
Nursing 'Excellence in Writing Award for 2000' and describes a parenting
leadership model for teaching self-management skills to children with
chronic health conditions. In collaboration with MCHB and CDC, Cris
developed three web-based modules on 'Growth Chart Training.' These
are: Accurately weighing and measuring infants, children and adolescents:
1) Equipment, 2) Technique, and 3) Developing and rating your technique.
These modules can be found on the CDC Web site at: http://www.cdc.gov/growthcharts.
Cris has presented many talks on pediatric nutrition, health, and
growth. Recent presentations include Pediatric Grand Rounds at the
Children's Hospital and Medical Center, 23rd Annual Pacific Northwest
Conference for Primary Care Practitioners, the American Dietetic Association
Annual Meeting in St. Louis, the Washington State WIC Educators Conference,
A.S.P.E.N. Nutrition Week in San Diego, Texas MCH and PKU Workshop,
Gaucher Health Advocates Meeting in Denver, and the NDI Foundation
Global Conference, 2002 in The Netherlands. Each summer Cris and colleague,
Betty Lucas, co-teach the intensive pediatric nutrition training conference
'Assuring Pediatric Nutrition in the Hospital and Community.'
Susan
Winter, MD
Dr. Winter has been the Medical Director of Medical
Genetics/Metabolism at Children's Hospital Central California for
22 years. Her academic appointment is Clinical Professor of Pediatrics
at the University of California, San Francisco. She is a graduate
of the University of Alberta Medical School and training programs
in Pediatrics, Genetics and Metabolism at the Hospital for Sick Children
in Toronto, Ontario. Research interests have been in treatment of
inborn errors of metabolism with particular interest in the use of
carnitine for organic acidurias and fatty acid oxidation defects.
Dr. Winter is the mother of 2 children, Laura (20 yrs) and Jeffrey
(21 yrs).
Lynne
A. Wolfe, MS, ACNP, PNP, BC
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Conference
Talk
Push Me/Pull You: How to
get the Information and Resources you need for your Child (PDF*) |
Lynne is a Metabolic Nurse Practitioner who has
worked in private practice at Ann-Marie's Clinic in rural Vermont,
as well as for HCS Community Care in Keene, NH. As of Sept 9, 2002,
however, she took a new position as the Metabolic Nurse Practitioner/FOD
Study Coordinator at the Institute of Metabolic Disease at Baylor
University in Dallas. She has been a nurse for nearly 20 years and
a Nurse Practitioner for nearly 7 years. She has strong Pediatric
Critical Care and Neurology background as a Staff Nurse. She used
her interest in Pediatrics Neurology and Genetics, to focus on learning
about children with all types of Chronic Illness and Disabilities
while studying for her Master's and Post Master's degrees at the University
of Rochester in Rochester, NY. She also completed a Neurodevelopmental
Disabilities Fellowship through the Leadership and Excellence in Neurodevelopmental
Disabilities (LEND) Grant Program sponsored by the University of New
Hampshire in 1998. She has worked with Neurometabolic and patients
with Genetic Syndromes for the last 5 years. While at Ann-Marie's
Clinic and HCS Community Care, her practice focused on supporting
children and families to obtain Home Care and appropriate Educational
Services. She also consults and provides Educational Presentations
to all types of Community-based agencies that work with families and
children with Special Health Needs. She has special interests in Organic
Acidemias and Fatty Acid Oxidation Disorders. For this Conference,
Lynne was sponsored by Ann-Marie's Clinic.
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