Interested researchers can access genotypic (Popup Definition: Genotypic data is a collection of details about the genes we have in our bodies, sort of like a recipe that guides how we grow and work. Scientists use this data to uncover connections between genes and things like our appearance and health) and phenotypic (Popup Definition: Phenotypic data is like a report card for how our genes make us look and act. It's the information about our observable traits, such as our hair color, height, and even how we behave, which helps scientists understand how our genes influence who we are) data, biospecimens (Popup Definition: Biospecimens are samples taken from living things, like portions of tissue, blood, or cells. Scientists study these samples to learn more about how our bodies work and to find ways to improve health and treat diseases) and induced pluripotent stem cells (iPSCs) (Popup Definition: iPSCs, are special cells made from regular cells, like skin cells. Scientists change these regular cells to become like stem cells, which can turn into many different types of cells in the body. iPSCs are important because they can help researchers study diseases and test new medicines without using cells from the body) from OCNDS patients using Simons Searchlight, an international research program with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders. CSNK2A1 (Popup Definition: CSNK2A1 is the gene that is altered in OCNDS. It is a kinase, which is a type of protein that plays a fundamental role in cell signaling and regulation. Specifically, kinases are responsible for transferring a phosphate group from a molecule called ATP (adenosine triphosphate) to another molecule, often a protein, in a process called phosphorylation. This process is a crucial mechanism in cells, as it acts as a kind of molecular switch that can turn proteins on or off, leading to changes in their activity, function, or localization within the cell) is one of many genes being studied through this initiative.
The Simons Foundation Autism Research Initiative (SFARI) hosts these data on their SFARI Base Portal. Researchers must make a SFARI Base account to request data and/or samples. Here is a guide for how to make a request: