Mª Jesús Martínez and Blanca Gener

The work of two researchers from Cruces Hospital has received an award in the Research and Pharmacology section as one of the Best Ideas in Health in 2009, given annually by the medical newspaper ‘Diario Médico’ in recognition of the work carried out by people, institutions and companies that help to improve medicine, sanitary care and health.

Blanca Gener, clinical geneticist in the Paediatric Service of Cruces Hospital, and Mª Jesús Martínez, neuropaediatrician in the same centre, together with other German and Dutch doctors, have described a new paediatric syndrome. The researchers defined the symptoms of the illness, as yet unnamed, as “Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay In Three Unrelated Patients: A Mandibulofacial Dysostosis Distinct From Treacher Collins syndrome”. The discovery was published in The American Journal of Medical Genetics.

The Neuropaediatric Unit at Cruces has for years followed the case of a girl who had a series of problems similar to those described in Treacher Collins syndrome. However, as the researchers indicated, “from the beginning we thought that some of the clinical manifestations did not exactly match this syndrome”.

Thanks to the collaboration of other leading European groups in Clinical Genetics, they carried out several molecular studies which, although did not reveal the genetic basis of the problems that the patient presented, allowed them to identify two other children with very similar symptoms, which “reinforced our hypothesis that we were seeing a new syndrome”.

"We hope that this will be the first step towards identifying other patients with the same symptoms and will allow us to find its molecular basis in the future, to understand the natural history and possible complications of the syndrome so that we can advise families on the way it is passed down and its risk of recurrence", explained Blanca Gener. In fact, since the news of the find, various specialists, especially in the United States, have been in contact with the team at Cruces.