Reminders

Home

Rare is Everywhere!!!

YouDoodle-3.png                   books.png

Rare is Everywhere is a brand new children's book that helps kids embrace differences in themselves and others through depictions of amazing genetically rare animals  By showcasing animals that are different than the ones that children are used to seeing- like white tigers, brown pandas, blue lobsters, pink grasshoppers, and others- children learn that differences are everywhere - and something to celebrate!

Proceeds from the book will be donated to the Rare Disease Foundation, and a Kickstarter campaign will be launched this fall to raise funds to publish the book. In the meantime, PLEASE LIKE the Rare is Everywhere Facebook page to stay up to date and support the book-- and share widely. Thank you!!!

Our gratitude goes out to Originator, Author, Illustrator and Donor of this amazing project, Deborah Katz

New Discovery Provides Hope for 20% of Our Community

cropped-roberge.3.jpg             web images.jpg

Novel discoveries funded by the Rare Disease Foundation and recently published in the journal Nucleic Acids Research appear poised to lead to potential new therapies to treat patients across a broad array of genetic diseases.

There are over 7,000 rare genetic diseases that affect about one in twelve people or over 500 million globally. For about 20% of these people, the gene defect arises from a specific type of abnormality known as nonsense mutation; so as opposed to tackling the daunting task of developing unique therapies for each individual disease, a new therapeutic approach targeted at this mutation (and therefore multiple genetic disorders) is being developed by Dr. Michel Roberge, a Professor of Biochemistry and Molecular Biology in the University of British Columbia’s Faculty of Medicine in partnership with The Centre for Drug Research and Development (CDRD), Canada’s national drug development and commercialization centre.

Starting with a microgrant from the Rare Disease Foundation, Dr. Roberge set out to find new therapeutic solutions that are much safer for patients. His team, alongside that of CDRD, screened more than 200,000 chemical-compounds and discovered a number of novel molecules that when combined with lower, less toxic doses of aminoglycosides enhance suppression of the premature stop signals. Subsequent modification of these compounds by CDRD’s medicinal chemistry group resulted in novel molecules that open up the possibility of treating patients across a broader spectrum of genetic diseases caused by nonsense mutations. The Rare Disease Foundation is proud to have been Dr. Roberge's first funding partner for this potentially ground-breaking research. Read more in the rotating news announcements below.

Image Preview

Novel discoveries funded by the Rare Disease Foundation and recently published in the journal Nucleic Acids Research appear poised to lead to potential new therapies to treat …

                                           

August 25, 2016 

Vancouver, BC – Novel discoveries funded by the Rare Disease Foundation and recently published in the journal Nucleic Acids Research

Read More »
Image Preview

A key event in the rare disease calendar, the Cambridge International Rare Disease Summit brings together academia, healthcare, industry, business, patient support groups and …

Read More »
Image Preview

Dans ce numéro :
- Faisons adopter un Cadre règlementaire pour les médicaments orphelins au Canada
- Les conférences, colloques et journées éducatives sur des maladies…

Read More »
Image Preview

Fellow members of the rare diseases community:

Now is a critical time for our campaign to implement a federal orphan drug regulatory framework and an intergovernment…

Read More »
Image Preview

It is with great excitement that we are announcing our Edmonton Parent 2 Parent Resource Network this September! CTV Edmonton was on hand to interview 3 of our Edmonton famili…

Our dedicated group of Edmonton volunteers are working hard to make the reality of a cross-disease family Resource Network happen. A kick-off picnic on August 28th will let families get to know…

Read More »

The Face of Rare Diseases

The Rare Disease Foundation is a collaborator in Child-Bright, the new $25 million Canadian research program for children with brain-based conditions and their families.


OfflinePhoto of Isabel Jordan
February 22, 2016

Social Medial Awareness Campaign for Rare Disease Day

Isabel Jordan

In partnership with the Regroupement québécois des maladies orphelines (RQMO), we are getting the voice of the rare disease community heard! Join our Thunderclap campaign for to make a huge impact on February 29th, International Rare Disease Day so that it will trend on social media!


Load More
1.png

Resources

Join our
online community

To access our

Resources wiki
Forums
Video library of meetings

New member registration
       Register
Already a member?
       Sign In

Event Calendar


Sep30

Rare Powers Day

Friday 9AM → 1PM PT

Oct20

Calgary P2P Resource Network Meeting

Thursday, October 20 7PM → 9PM MT

Oct27

Toronto Area Parent 2 Parent Resource Network

Thursday, October 27 7PM → 9PM PT

Nov05

Inaugural Rare Finds Calgary

Saturday, November 5 7PM → 11PM MT

Load More

Viewed 346,641 times