BY: Sarah Foye

I am a mother of a child affected by a rare muscle disease called Centronuclear Myopathy (CNM), as well as a patient advocate for families affected by this disease.  The University of Chicago Genetics Services is the main provider of genetic testing for CNM in the US.  When our son, Adam, was diagnosed with this condition many years ago, we first had him tested for the only known gene available at the time: the MTM1 gene for myotubularin.  Lucky for us, The University of Chicago’s laboratory has a focus on testing of rare orphan genetic diseases for which testing is not readily available elsewhere.

Research shows that around 83% of people diagnosed with CNM test positive for the MTM1 gene.  Well, weren’t we surprised when Adam tested negative?!  We had to keep looking and waiting to find a genetic answer for our family. 

As time went on, scientists began to discover more genes associated with CNM.  This was both good news and bad news to us.  Since research labs do not do clinical testing we couldn’t actually have Adam tested for the newly discovered genes.  It takes time and money for clinical laboratories to create new tests.  So our family, along with many others in our situation, needed to wait until the tests became clinically available.

We were delighted to discover that we could actually take action to help make these tests a reality for families like ours!  The National Institute of Health Office of Rare Diseases have sponsored a program called the Collaboration, Education and Test Translation Program (CETT) to get research findings into the hands of the people who can use it.  The government website summarizes the program as follows:

“Collaboration is the key word in the CETT Program’s goal to help facilitate the translation of new tests for rare genetic diseases. The program’s goals are to translate as many tests as possible and ensure that the best possible test is offered, whether the specific genetic condition affects 5 people or 50,000.”  (

The CETT program has provided funding for clinical laboratories to create new tests for genes that have been discovered in the research lab in order to help affected families.  This program also encourages continued collaboration between the clinical laboratory, researchers and patient advocates.  This helps to ensure that research can continue even after the test is moved from the research lab into the clinical setting.

Serving as a patient advocate, I collaborated with the University of Chicago laboratory and Dr. Alan Beggs' laboratory at Children’s Hospital Boston on two CETT grants for CNM genes (DNM2 and BIN1) to make these tests clinically available.

One of the greatest feelings was to hear from another family in our CNM community that found their genetic answer as a result of the work produced through the CETT grant program.  Teena Crane, whose son, Scott, has Centronuclear Myopathy said about the test “The test was important to us for it identified the defective gene in Scott and verified that my daughter does not have it, which is important in her desire to have a family one day.” For our family, however, we continue to seek a genetic diagnosis.

I am truly grateful that the University of Chicago is committed to helping families like ours find answers for orphan diseases like CNM.

My dream for the future is fast, effective testing that could be done on multiple genes simultaneously.  This could help find solutions to families’ clinical questions quickly and without surgeries like muscle biopsies.  Hmmm, do you think the National Institute of Health will offer grants to develop tests like this . . . ?