We are expanding our research and the search for targeted treatments with an expected budget of over $250,000.
Newborn Screening Project: Expanding the Newborn Screening to identify genetic conditions will assist with the diagnostic journey with early detection, diagnosis and interventions.
Metabolomics: Understanding how patients metabolize anti-epileptic medication may be an important tool in treating drug resistance epilepsy in Dup15q Patients.
Growth Curves: Dup15q specific growth charts can be compared with the standards for other individuals with the condition rather than with measurements of the general population. This will allow for appropriate routine care and health management of individuals with Dup15q Syndrome.
LADDER Database Support: A database that will offer caregivers access to information about a larger population of patients living with Angelman or Dup15 Syndromes to better inform their decisions regarding treatments and interventions.