The Chromosome 6 Project: a proof of concept for using parent-reported phenotypes to unravel the phenotypic spectrum of chromosome aberrations

Chromosome 6 aberrations, such as deletions and duplications (too little or too much chromosomal material, respectively), are extremely rare conditions with an estimated prevalence of less than 1 in 10,000 live births. Although chromosome aberrations can be diagnosed for more than 50 years, for most specific chromosome changes, still little is known about their effect on health and development. The lack of this knowledge is a burden for patients, parents and society.
The Chromosome 6 Project aims to increase knowledge about rare chromosome 6 aberrations for both parents and professionals. The Chromosome 6 Project: Driven by parents, for parents is an ongoing collaboration with parents of an international Chromosome 6 Facebook group. It was on their initiative that the research started in 2013.
The strength of the Chromosome 6 Project is involving parents, both in the setup of the study and in data collection directly from parents. We have shown that data reported by parents are reliable and useful for research purposes. This method of data collection has led to the largest complete database on chromosome 6 changes and to new knowledge on the clinical characteristics, development and behaviour of children with proximal 6q deletions (chromosome region 6q11q15), EPHA7 deletions (6q16.1), TAB2 deletions (6q25.1), terminal 6q26q27 deletions and terminal 6p25 deletions.
The Chromosome 6 Project is an inspiring example of patient involvement in scientific research, for which recommendations are made by the researcher.