New Discovery Provides Hope for 20% of Our Community
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 aminoglycosidesenhance 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.
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.
Every child deserves a bright future, says Dr. Annette Majnemer.
Occupational therapist and scientist at the MUHC Research Institute, Majnemer is hoping a $25 million research grant announced Thursday will help improve the lives of families and children with brain-based disabilities such as autism spectrum disorders, cerebral palsy and attention deficit.
Based at the Montreal Children’s Hospital, Majnemer is the lead investigator of a new Canadian network research project on brain-based…
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!
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