The Neurodevelopmental Genomics Research Group is dedicated to revealing the function of unknown genes critical to the healthy development of brain and nerves. Using cutting edge research we are assessing alterations (mutations) that occur in the genes linked to Rett syndrome. Rett syndrome is the second most common (after Down syndrome) cause of severe intellectual disability in females. Increasingly, we suspect that yet unidentified gene mutations are involved in Rett syndrome patients where a genetic diagnosis has not been made. Recent developments in DNA sequencing technology may allow us to discover new genes not previously associated with Rett syndrome. To model Rett syndrome ‘in a dish’ we are using Induced pluripotent stem cell (iPSC) technology where we can turn patient skin cells into different cell types relevant to Rett syndrome. This will allow us to better study the consequences of mistakes identified in these Rett syndrome genes, and provide patient-specific models for high-throughput therapeutic development.
We are also focusing on developing early diagnosis and intervention tests for the rarer genetic diseases. There are still no robust biochemical markers of Rett syndrome, but by using high throughput screening techniques on patient samples (blood and urine) we hope to identify protein or other chemical markers that detect Rett syndrome. Such biomarkers have the potential to be used by clinicians as an early screening test for Rett syndrome.
- A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. 2017
- Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. 2017
- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 2016
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). 2016
- MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 2016
- Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. 2016
- Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. 2016
- Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD. 2016
- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. 2016
- Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 2016