January 7, 2015
by inesp.alves
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In “Achondroplasia: A view to the future options emerging from the benchside”, Narayana, J., Horton, W.A, 2013, there is a very interesting point that reflects the challenges of bringing FGFR3-based therapies to the bedside. “Despite the considerable recent progress in the … Continue reading
December 31, 2014
by inesp.alves
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“Compassionate use is a treatment option that allows the use of an unauthorised medicine. Compassionate use programmes are for patients who have a disease with no satisfactory authorised therapies or cannot enter a clinical trial. They are intended to facilitate … Continue reading
October 23, 2014
by inesp.alves
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The online RE(ACT) Community is organized around four main axis dedicated to research on rare and orphan diseases: Learn, Meet, Share and Support. Learn from the knowledge and experience of other researchers and patients; meet other researchers and facilitate the … Continue reading
October 20, 2014
by inesp.alves
4 Comments
In my last post, about the V International congress around achondroplasia and other skeletal dysplasia, I mentioned the participation of Dr. Elvire Gouze and her lecture. She is responsable for the developement of the soluble FGFR3. Dr. Elvire Gouze was kind to … Continue reading
October 17, 2014
by inesp.alves
2 Comments
During three full days, the V International Congress around Achondroplasia and other Skeletal Dysplasia took place in the north of Spain, very well-organized by Alpe Foundation. Several world-renowned experts attended, giving one or more lectures, over 500 people registered, mainly parents … Continue reading
September 25, 2014
by inesp.alves
1 Comment
Since the surprise from the results of the first MRI, when Clara was 9 months old, that anxiety was always there on the other two times Clara was submitted to this exam. The sedation procedure with inhalatory anesthetic is smooth and painless … Continue reading
September 15, 2014
by inesp.alves
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We are just two days of this great event and I’m honored to have been chosen to participate as a media partner. The Orphan Drugs Summit is the leading rare disease event in Northern Europe. A well-established platform where pharmaceutical companies … Continue reading
September 5, 2014
by inesp.alves
5 Comments
Alpe Foundation, one of the most important spanish and european organisations for achondroplasia, is promoting the 5th Congress, that will take place in north of Spain, Gijon, on the 11th, 12th and 13th October 2014. Their webpage is in spanish … Continue reading
August 17, 2014
by inesp.alves
1 Comment
Lately, I´ve knew about other children with Clara´s age and with achondroplasia that had to undergone emergency cervico-medullary decompression surgery. I know also that some parents observe strange signs in their children without recognizing them to be neurologic alterations. I … Continue reading
July 24, 2014
by inesp.alves
1 Comment
Rarely I´ve mentioned here the hard and slow road of limb lenghtening. My first research on achondroplasia was at the day we received the genetic report confirming Clara had achondroplasia. Some moments get engraved in our memories in the hardest … Continue reading