If patient / parent led organizations can make clinical studies more open, what else can they do?

Back in February Amy Dockser Markus in an article on natural history studies for rare diseases in the Wall Street Journal  (WSJ) had a quote that has resonated with me “The parents want different scientists researching the diseases to share data about the patients so the children won’t need to participate in so many […]

By | October 8th, 2013|Uncategorized|0 Comments

3ª Caminhada Solidária 28 Setembro

Caros amigos,

Chegou a altura de mais uma caminhada!

Desta vez, em Setembro, o clima mais fresco, ainda o cheiro a férias…Porque não um fim de semana diferente? O local, será a Arriba Fóssil da Costa da Caparica, classificada como Paisagem Protegida em 1984. Na beleza deste extenso pinhal, que se estende até ao limite da Arriba, […]

By | September 19th, 2013|Uncategorized|0 Comments

Jonny Lee Miller, Racing for a Cure

On May 5th, 2013, Jonny Lee Miller, who plays, Sherlock Holmes on CBS’s new hit show, “Elementary”, ran an ultra-marathon (50miles), in honor of , Jonah’s Just Begun. It took Jonny just under 13hours to complete the race.


Jonny set his monetary goal at $160,000 dollars, these proceeds will help initiate the Natural History Study (NHS) […]

By | September 11th, 2013|Uncategorized|0 Comments

Rare Disease Heroes – Extraordinary Collaborators We Should Be Listening Too


Sometimes you meet people that truly inspire you to do more, question what you have been doing and rethink your goals in life. But when you meet three of them in a short space of time you realize that something transformative is happening. In the space of two years three non-scientists have overtaken all my […]

By | September 8th, 2013|Uncategorized|0 Comments

An Interview with Jill Wood (Citizen Scientist, Co-Founder and Treasurer, Jonah’s Just Begun (JJB) and CEO Phoenix Nest)

(full disclosure: Sean Ekins is CSO at Phoenix Nest and consults with JJB as well as the Hereditary Neuropathy Foundation and Hannah’s Hope Foundation).

SE: Today I am happy to introduce Jill Wood. Jill, can you please tell us a bit about your background and what you do?


JW: I graduated from Oregon State University with a […]

By | September 4th, 2013|Uncategorized|0 Comments

Winning by a knock out, a mouse model for Sanfilippo type D.

The route to helping flnd treatments for one disease may beneflt by helping research in another disease. We are taking this altruistic approach and recently submitted a winning project proposal for Sanfllippo Syndrome D which will not only beneflt research in this disease but also the other 3 subtypes A, B and C.

Sanfllippo Syndrome […]

By | August 30th, 2013|News, Uncategorized|0 Comments