Lay summary
Mutations in the NOTCH2NLC gene cause brain and muscle degeneration in children and adults that is often fatal. Initially believed to be extremely rare and limited to East Asia, improved detection technology has revealed NOTCH2NLC gene mutations in at least seven Māori whānau in Aotearoa NZ. The number of people affected or at risk of NOTCH2NLC-related diseases in Aotearoa NZ is unclear. We are a team of patients, researchers, and clinicians who aim to determine; how many people are affected or at risk, specific genetic features of the mutation, and how those manifest as symptoms. We will genetically test patient samples by collaborating with affected whānau. We will promote the development of a NZ-based genetic test for NOTCH2NLC mutations and test preliminary treatment strategies in cell models. Our research will improve global and local understanding, diagnosis, and care for whānau with NOTCH2NLC expansions.