Solidarity with rare disease does not end after the event Nadia – Hypertext

The history of Nadia, the girl with trichothiodystrophy, aroused a wave of solidarity without precedent. During the last four years, his family raised nearly a million euros to finance an alleged operation genetics, through the brain to which they had to subdue the girl in Houston. However, the suspicions of Josu Mezo in his blog Bad Press and paths journalistic investigations carried out by Hypertext and the newspaper The Nation dismantled the case.

The wave of solidarity with Nadia soon became outrage when you know the history is full of falsehoods and inverosimilitudes

unfortunately, the trichothiodystrophy, the rare condition that you suffer from Nadia, does not have a cure at present. No Houston hospital offers the treatment they advocated Fernando Blanco and Marga Garau, the parents of the minor, which are currently being investigated for an alleged crime of fraud. The girl is, without a doubt, the main affected of this terrifying story. But the case of Nadia it has also left other victims.

The families of patients affected by rare diseases continue to need the support of the society. However, the scandal of the child with trichothiodystrophy has caused, according to published The daily, a decline in chopped donations. Despite the fact that the Spanish Federation of Rare Diseases (ERDF) is split with days ago case Nadia, what is certain is that its history has sown distrust in the citizenship.

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In the case of pathologies that are rare, the economic contributions are key to advancing research on these diseases. “We cooperate with many associations and foundations of patients, whose role is complementary and very important, sometimes even indispensable in disorders are ultra-rare,” explains Dr. Lluis Montoliu, a scientist at the National Center for Biotechnology. The R & D investment remains insufficient in Spain, and the situation is much room for improvement in the field of rare diseases. Although it has been wagered for this type of studies, as demonstrated by the creation of the Center of Biomedical Research Network on Rare Diseases (CIBERER), those affected by these disorders, calling for the solidarity to continue.

The research into rare diseases builds on the initiatives of solidarity to finance a portion of these studies

from 16 to 18 December, the Fundación Isabel Gemio has organized a charity weekend to raise awareness about these pathologies minority. The program I give You my word, presented by the journalist Isabel Gemio, will dedicate a good part of its content to give a voice to experts and patients with rare diseases. The aim is to disseminate the research conducted in the present, as well as explain the challenges they face on a daily basis. This initiative has been supported by the CIBERER, a public body that promotes studies in these pathologies are rare.

In recent days, ERDF has also been given to know the resolution of the call for proposals concerning aid for research on rare diseases. The entity has provided funding to the Dr. Juan Ramón Martínez, Andalusian Centre for Developmental Biology, the project systemic Analysis of the network’s gene-specification and maintenance of retinal pigment epithelium: towards new therapies for retinitis pigmentosa. In addition, ERDF has also supported the initiative Study of the genetic basis of albinism, driven by the own Montoliu from the National Center for Biotechnology. The Federation has managed to expand the financial aid granted, in addition to having a scientific-technical analysis of applications thanks to the National Agency of Evaluation and Prospective.