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About Sickkids
About SickKids

May 27, 2013

Cystic Fibrosis Month: SickKids is a leader in research

By Hillete Warner

May is Cystic Fibrosis Awareness Month, a time of increased awareness of the SickKids Cystic Fibrosis Centre whose discoveries have helped to shape research and treatment of CF worldwide.

There is no cure for cystic fibrosis. However, SickKids researchers collaborating with scientists around the world are optimistic that their work will lead to effective treatments of the disease.

As one of the leading facilities in the world, the Cystic Fibrosis Centre has generated the basic knowledge needed to develop treatments for CF. The discovery in 1989 of the gene responsible for CF marked the first time a disease gene was identified and paved the way for mapping of the human genome. SickKids researchers also discovered major disease-causing mutations, the normal function of the CFTR protein, and contributed to understanding the impact of mutations on the CFTR protein-thereby identifying therapeutic targets and strategies.

Today there’s a great deal of excitement in CF research as the attention shifts to personalized medicine. Now, instead of only ameliorating the symptoms of CF associated digestive disorders and lung infection, the basic research described above is being used to develop therapies to target the CFTR gene mutation itself. For example-one new drug-KALYDECO was just approved for CF patients with a rare mutation called G551D.  

SickKids is contributing to the ongoing efforts to rescue the defects caused by each CF disease causing mutation, including the most common mutation: deltaF508, using targeted treatments that will be effective and affordable. We are learning that it may be necessary to provide multiple therapeutic options even to those individuals with the same mutation as there is patient-to-patient variability.

The move towards personalized medicine is linked to SickKids’ success in using stem cells to produce mature lung cells, providing insight into CF and other lung diseases. When researchers created lung tissue from stem cells of a few individual patients, they showed that a compound resembling an investigational drug for cystic fibrosis therapy could partially reverse the protein defect caused by the most common mutation: deltaF508.

These studies point to the potential for pre-screening each patient for drug response using their own lung cells. This approach will evaluate the efficacy of new treatments in each patient and also help to evaluate whether patient-specific genetic information can be used to develop predictive tools to aid in treatment decisions.

This year SickKids partnered with a global pharmaceutical company with the aim of discovering new more efficacious drugs to test in clinical trials of patients with the delta F508, a mutant protein found in 90 per cent of Canadian patients with CF.  SickKids researchers and clinicians are using their expertise in genetics, molecular biology, developmental, stem cell biology and experimental medicine to develop new tools for deciding which drug is right for each patient.

Learn more about the SickKids Cystic Fibrosis Centre.