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The Fix: Friends+Cocktails=Cure

We are excited to cordially invite you to…

Jonah’s Just Begun, 1st Annual

“Rare Occurrence Reception”

This special event should not be missed!  Hosted by Jonny Lee Miller, from the […]

By | June 5th, 2014|Uncategorized|Comments Off on The Fix: Friends+Cocktails=Cure

SUPERPOWERS AGAINST SANFILIPPO-SUPERPODERES CONTRA SANFILIPPO

The news could not be better! Xavi Hernández, a famous player with, The Barcelona Football Club, and ambassador of, Obra Social La Caixa Foundation, which is a large bank in Spain, has joined the, Sanfilippo Barcelona Association, an association that funds research projects that help in fighting this rare disease.

How are they doing […]

By | May 21st, 2014|Uncategorized|Comments Off on SUPERPOWERS AGAINST SANFILIPPO-SUPERPODERES CONTRA SANFILIPPO

Lace Up Your Running Shoes for this Announcement

South Slopes Pediatrics’ Race for JJB

The amazing Dr. Cao and the team over at South Slope Pediatrics have organized a team of racers for the 17th Annual Cinco De Mayo 5K Run, held in Prospect Park, to raise funds for, JJB.    There will be an Adult 5k for runners and walkers, followed […]

By | March 19th, 2014|Uncategorized|Comments Off on Lace Up Your Running Shoes for this Announcement

World Rare Disease Day, JJB & JLM Storm the Capital

February 28th was, International Rare Disease Day!  JJB celebrated the day on Capital Hill with Jonny Lee Miller and friends.  JJB’s Jill Wood and Jonny Lee Miller of the CBS’s hit show, ‘Elementary‘, spoke to a standing-room-only group consisting of patient advocates, legislators, and industry, about the importance of supporting federal programs that support […]

By | March 18th, 2014|Uncategorized|Comments Off on World Rare Disease Day, JJB & JLM Storm the Capital

Jonny Lee Miller to Speak at Rare Disease Caucus

We are excited to announce this very special and inspiring Rare Disease Congressional Caucus Briefing

Rare Disease Legislative Advocates, National Organization for Rare Disorders & Jonah’s Just Begun Foundation to Cure Sanfilippo, in coordination with
By | February 24th, 2014|Uncategorized|0 Comments

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