Courtagen’s devACT® Clinical Management Panel provides the rapid analysis of genes that can inform meaningful treatment options while potentially avoiding both costly and invasive alternative diagnostic procedures. Many patients presenting with developmental and behavioral phenotypes, including developmental delay, intellectual disability, and autism spectrum disorders, experience a diagnostic work-up that consists of many tests over an extended time period. Results from Courtagen’s devACT® Clinical Management Panel can be obtained from a single saliva sample. This test enables health care providers to efficiently test patients who are presenting with clinical features of intellectual disability that are often treatable genetic conditions. The devACT® panel focuses on actionable results with the potential to improve health outcomes.
The development of genetic approaches to diagnosing and managing patients with Autism is increasingly enabling clinicians to provide a more definitive diagnosis or tailor specific treatments to a patient’s specific phenotype. Courtagen already found clinical utility with their diagnostics test. For example, Courtgen has found patients with mutations in the CHAT gene which have responded favorably to Aricept. In addition, other patients with TRAP1 variants have responded well to NAC. It is also likely that a class of patients with Autism will respond well to cannabinoids. Listed below is a list of papers exploring this topic.
- Busquets-Garcia Nat Med 2013 – Targeting the endocannabinoid systems for Fragile X syndrome
- ECS and rat VPA model autism – Alteration of the ECS in rat Valproic Acid model of Autism.
- Foldy et al Neuron 2013 – Autism-Associated Neuroligin-3 Mutations commonly disrupt Tonic Endocannabinoid Signaling
- Jung et al Nat Commun 2012 – Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome
- Maccarrone et al 2010 – Abnormal mGlu 5 Receptor/Endocannabinoid Coupling in Mice Lacking FMRP and BCI RNA.
- Siniscalco et al CB2 upregulation in autism 2013 – Cannabinoid Receptor Type 2 but not Type 1, is up-regulated in PBMC of children affected by Autistic disorders
- Straiker et al Neurobiol Dis in press – Fmr1 deletion enhances and ultimately desensitizes CB1 signaling in autaptic hippocampal neurons
- Zhang and Alger J Neurosci 2010 – Enhanced Endocannabinoid Signaling Elevates Neuronal Excitability in Fragile X Syndrome
