Research collaboration

We are currently recruiting patients with DDB1 variants and carrying out methylation studies to determine if there is an epi-signature associated with this condition. Eligible patients are those with de novo DDB1 variants where we can obtain a DNA sample from blood. Results are expected over 12-24 months.
We are also collecting phenotype information on a cohort of individuals with de novo DDB1 variants to further define the syndrome phenotype.