Richard Haas collaborated with Dr. Richard Naviaux to help establish the UCSD Mitochondrial and Metabolic Disease Center (MMDC).
The MMDC is an international leader in the diagnosis, treatment and research (including clinical trials) of metabolic disorders.
In 1999 Dr. Haas worked Dr. Naviaux again to identify mitochondrial DNA polymerase mutations as the cause of the first reported mitochondrial disease, Alper’s syndrome. Mitochondrial DNA depletion syndromes, polymerase defects and abnormalities of the mitochondrial replisome are now known to be common causes of mitochondrial disease in children and adults. He remains actively involved in research in this area to this day.
Recent research out of the MMDC has identified a subset of children with Autism who also have mitochondrial dysfunction. In a recent project, Dr. Haas was UCSD principal investigator in a study looking mitochondrial dysfunction in children with autism.
Current research in collaboration with researchers at the
Sanford-Burnham Institute focuses on creating stem cells from mitochondrial disease cell lines. The aim is to create neurons and muscle cells carrying mitochondrial disease mutations as model systems for drug development.
Dr. Haas recently completed a phase I/II pharmacokinetic study of a new anticonvulsant drug, levetiracetam, in the treatment of neonatal seizures. Results of data from this study should improve the care of neonates with seizures. The development of EEG remote video monitoring was an important part of this project. benefiting babies in the major neonatal units throughout San Diego.
A seven-day study of the pharmacokinetics of intravenous levetiracetam in neonates: marked changes in pharmacokinetics occur during the first week of life.
Sharpe CM, Capparelli EV, Mower A, Farrell MJ, Soldin SJ,
Pediatric Research. 2012 Apr 11. doi: 10.1038/pr.2012.51.
Autism and mitochondrial disease.
Developmental Disabilities Research Reviews. 2010 Jun;16(2):144-53. Review.
Mitochondrial disease: a practical approach for primary care physicians.
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH.
Pediatrics. 2007 Dec;120(6):1326-33. Review.