Beyond Achondroplasia

Growing together with Clara

December 31, 2014
by inesp.alves

Compassionate use policy for orphan drugs

“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

November 1, 2014
by inesp.alves

Statins for achondroplasia update

I contacted Professor Noriyuki Tsumaki, the head researcher for the study of the use of statins in achondroplasia, also mentioned in a post here. I kindly got  the following asnwers: “Statins should not be used in children because statins decrease cholesterol, … Continue reading

October 23, 2014
by inesp.alves
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Unlock achondroplasia

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

Soluble FGFR3 rectification

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 10, 2014
by inesp.alves

Prevention of intracranial hematomas

A child with achondroplasia has, among other body characteristics, a large and heavy head and disproportional short extremities (arms and legs), increasing the difficulty to control gait. For that, the probability of hitting the head harder while walking, playing or just … Continue reading

September 18, 2014
by inesp.alves

Statins for achondroplasia?

Nature journal published yesterday an article connecting statins to achondroplasia treatment. You can read the abstract of the article “Statin treatment rescues FGFR3 skeletal dysplasia phenotypes“.A. Yamashita et al. Nature,doi:10.1038/nature13775, 2014 Statins or HMG-CoA reductase inhibitors are a class of drugs used … Continue reading

August 29, 2014
by inesp.alves

What can 3D bioprinting do for achondroplasia?

The last days, I have been doing some research about 3d bioprinting and I´m completely amazed by all that I found. This impressive technic is a huge evolution in medicine and it shows obvious signs that it will, in a … Continue reading

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