We have discovered that children with regression-type autism have unique mitochondrial abnormalities which may be responsible for thier regression into autism. Identifying these abnormalities early in life, before autism develops, can lead to preventative strategies.

We have developed a cellular model of neurodevelopmental regression in the laboratory which allows us to test treatments to reverse the molecular abnormalities identified. Using cellular models will expedite the discovery of treatments for children with autism.

The molecular mechanism behind neurodevelopmental regression are unknown but we have characterized and collected biological samples on over 100 children with autism, approximately half of them with regression. We wish to examine the molecular mechanism of regression by analyzing the gene expression and epigenetic methylation patterns on these sample.

Late regression in adolescence is associated with severe seizure and aggression. Being able to predict who will have seizures can allow us to implement treatments to prevent the regression from occurring. We have longitudinal EEG recording on patients would can be processed with advanced signal processing and machine learning algorithms to identify a signature on the future development of seizures.

Although mitochondrial supportive treatments are not uncommonly used for children with mitochondrial dysfunction, these treatment are many times only particialy effect and any children cannot tolerate mitochondrial supplements.We aim to develop an optimal mitochondrial treatment in a liposomal delivery system to improve tolerability and effectiveness. 

Treating folate pathway abnormalities has been found to result in significant improvement in language and other autism symptoms. Novel folate compounds need to be developed to optimally correct these abnormal pathways.

Photobiomodulation is a new non-invasive treatment that increase mitochondrial function and reduces neuroinflammation. Preliminary studies suggest it can improve autism symptoms but optimal protocols have not been determined. In addition, it may be a safe and effective treatment for improving epilepsy and/or epileptiform discharges in the brain. 

Although hyperbaric oxygen therapy is not uncommonly used for autism, optimal protocols and the mechanisms by which is works is still unknown. 

In order to study diseases that are transmitted across generations, samples from a large number of families, both those with children with neurodevelopmental disorders and control famlies. Such a biorepository would be extreamly unique as most biorepositories only collect samples form the child with the disorder. Such samples can be analyzed with mulitple assays leading to many discoveries.

Abnormalities in the folate pathway cause multiple neurodevelopmental disorders and lead to pregnancy complications. We have found that some of these abnormalities are non-genetically inherited. This opens the possibility of treating parents to prevent their children from developing chronic disease. 

Our studies suggest that mitochondrial dysfunction in children with autism are not purely genetic but have a strong environement component as well as a non-genetic inherited component. This suggests that mitochondrial abnormalities could be addressed before birth to prevent neurodevelopmental disabilities and chronic childhood disease. 

Abnormalities in oxidative stress and the methylation pathway are pervasive abnormalies which dysregulate cellular function. Studies have demostrated that these abnormalities also affect mothers who are at high risk for having chidlren with autism. Learning more about these abnormalities and how to treat them early, even befopre life, can provide a gateway into improve childhood disease.

The Seahorse is a high-throughput respirometer that measures mitochondrial function in 96 samples of living cells or in isolated mitochondria.

This imaging system work with the Seahorse to normalize the experiments based on the number of cells. This system also images multiple intracellular markers of cell function.

This high throughput systems provides the ability to measure that activity of the expression of multiple gene transcripts simultaneously thereby expediting experiments.

This advanced imagery allows the testing of multiple cellular proteins simultaneously providing high throughput analysis of protein targets.