Asociación Síndrome Opitz C

Raising awareness of Opitz C syndrome

Asociación Síndrome Opitz C is a nonprofit founded in 2006 to raise awareness of Opitz C syndrome and promote research into this ultra-rare genetic condition. The association is based in Terrassa, Barcelona, Spain.

About the condition

Opitz C syndrome is an extremely rare genetic condition, with only about 60 diagnosed cases known worldwide. Two cases have been identified in Spain: one in Asturias and one in Catalonia. The source profile describes the condition as serious, with high infant mortality, intellectual and psychomotor developmental delays, and a range of congenital abnormalities. It was described in 1969 by Dr. John M. Opitz, but the gene or genes responsible have not yet been identified.

Research efforts

The association works with the Human Genetics team at the University of Barcelona, led by Dr. Daniel Grinberg, on a research project using exome sequencing. The project was selected by Precipita, a crowdfunding platform for scientific research promoted by the Government of Spain. The campaign exceeded its target, raising just over €30,000 through donations and a contribution from Obra Social “la Caixa.” The association has also helped collect DNA samples from affected people and family members for genetic study.

Public outreach

The association has taken part in Terrassa’s Health Organizations Fair and has been featured in outlets including El País, La Vanguardia, Diari de Terrassa, and ARA. It has also organized or participated in international conferences on the syndrome, including events in New Orleans in 2002 and Chicago in 2006.

Contact

The association offers a contact form on its website and is on Twitter and Facebook.