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Sanfilippo Clinical Trial of High Dose Oral Genistein Aglycone

We are at a pivotal moment for Sanfilippo and the continued evaluation of the soy derived molecule, genistein. While this molecule has been shown to be active in reducing neurodegeneration in preclinical mouse models, so far clinical studies in humans with low concentrations of the natural product have not been successful in showing any clinical […]

By | December 16th, 2013|Uncategorized|0 Comments

De-Clutter For a Good Cause

We all know the dreaded Black Friday madness is almost upon us, and we know what your thinking:
  • My kids have so much stuff already!
  • Where am I going to hide it all, I have no closet space!
  • My husband has tools he has never even touched!

Before you get […]

By | November 14th, 2013|Uncategorized|0 Comments

News Roundup, From the CSO

So much has happened in the last few weeks so we have a bit of catching up to do.

First, probably most importantly the US government shutdown is over for now and government employees can get back to work on science that affects rare diseases. For example critical research, protocol reviews and more were halted for […]

By | October 23rd, 2013|Uncategorized|0 Comments

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