Medical Neurogenetics Focus on Research
The Medical Neurogenetics Molecular and Metabolic Laboratory research team is dedicated to providing an advanced
environment to test for a range of genetic disorders. The Laboratory is equipped with advanced
research and test equipment and is recognized for its quality diagnostic and investigative techniques.
Top 10 Most Significant Autism Research Achievements of 2009 by Autism Speaks
Our 2009 publication on mitochondrial disease and autistic regression has been selected by Autism Speaks to be part of its annual list of the most significant research achievements from the previous year.
Publication: Shoffner J, Hyams L, Niedziela-Langley G, Cossette S, Mylacraine L, Dale J, Ollis L, Kuoch S, Bennett K, Aliberti A, & Hyland K (2009) Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression. Journal of Child Neurology (PMID: 19773461; article is available through SAGE journals online: http://jcn.sagepub.com/)
Autistic spectrum disorders encompass etiologically heterogeneous persons, with many genetic causes. A subgroup of these individuals has mitochondrial disease. Because a variety of metabolic disorders, including mitochondrial disease show regression with fever, a retrospective chart review was performed and identified 28 patients who met diagnostic criteria for autistic spectrum disorders and mitochondrial disease. Autistic regression occurred in 60.7% (17 of 28), a statistically significant increase over the general autistic spectrum disorder population (P < .0001). Of the 17 individuals with autistic regression, 70.6% (12 of 17) regressed with fever and 29.4% (5 of 17) regressed without identifiable linkage to fever or vaccinations. None showed regression with vaccination unless a febrile response was present. Although the study is small, a subgroup of patients with mitochondrial disease may be at risk of autistic regression with fever. Although recommended vaccinations schedules are appropriate in mitochondrial disease, fever management appears important for decreasing regression risk.
To see the Autism Speaks Top 10 Autism Research Achievements of 2009 list: http://www.autismspeaks.org/science/science_news/top_ten_autism_research_events_2009_main.php
To read a press release about the Autism Speaks Top 10 Autism Research Achievements of 2009 list: http://www.autismspeaks.org/press/top_10_research_achievements_2009.php
Current Research Grants
|2009-2010||Department of Defense, Grant: Mitochondrial Defects in Autism|
|2009-2012||Department of Defense, Grant: Mechanisms of Mitochondrial Defects in Gulf War Syndrome|
|2010-2013||Department of Defense, Grant: Mechanisms of Mitochondrial Dysfunction in Autism: Combined laboratory analysis and functional MRI assessments|
|2010-2011||Pediatric Neurotransmitter Disease (PND) Association, Grant: Keratinocytes and/or melanocytes as a cell source for the enzyme assay of tyrosine hydroxylase|
Overview of Mitochondrial Disease
"As many as 2 million Americans suffer from mitochondrial disease. Doctors and researchers have identified hundreds of
different subtypes of the disorder. What they all have in common is a malfunction of the mitochondria - tiny substructures,
or organelles, found inside every cell in the body. Depending on which types of cells are affected, mitochondrial disease can
cause muscle wasting, nerve damage, seizures, stroke, blindness, deafness and more.
"As mitochondrial process food into energy, they create free redicals - highly reactive oxygen ions that can cause damage to
proteins. Many experts believe that as cells age, this damage accumulates, weakening the mitochondria irrevocably and doing
harm to specific organs - or, more generally, to the whole body."
(Time Magazine, November 13, 2006, Michael D. Lemonick)
The following links will enhance your knowledge of genetic disorders: