Genes hold the key to our health. Through revolutionary gene therapy solutions, the medical field is transforming to laud the power and precision of personalized medicine. Gene therapy has the potential to treat the underlying cause of genetic conditions such as Cockayne syndrome, providing help for so many families. As the Riaan Research Initiative, a nonprofit organization dedicated to funding, advocating, and developing a cure for Cockayne syndrome, says:

We have the tools to conquer genetic disease. This is the golden age of scientific discovery.

In 2021, Riaan Research Initiative founders Jo Kaur and Richie DiGeorge joined an agreement with the UMass Chan Medical School to support research into Cockayne syndrome and potential treatments. Kaur and DiGeorge are the parents of Riaan, a bubbly and charming boy who was diagnosed with Cockayne Syndrome Type II that year. As they explain:

“Riaan has the most severe type, with an average life expectancy of five years.”

Three years later, the UMass Chan Medical School’s Translational Institute for Molecular Therapeutics has made progress in the development of a gene therapy vector for murine (mice) models of Cockayne syndrome. According to reporting from Susan E.W. Spencer and Bryan Goodchild in UMass Med News, the research team – headed by Dr. Ana Rita Batista, PhD, and Dr. Miguel Sena-Esteves, PhD – is seeing promise in the adeno-associated viral vector.

So far, the research team has found that the gene therapy, which delivers a functioning copy of the CSA gene, improves survival rates in the murine models. Even more excitingly, the mice continued to develop normally and healthily following treatment.

More research still needs completion before this gene therapy can be moved into clinical studies or potentially evaluated in humans. However, this suggests that gene therapy could potentially transform lives in this community.

About Cockayne Syndrome

The Riaan Research Initiative explains that Cockayne syndrome is:

a complex and lethal multi-system genetic disorder. It causes a failure in the body’s DNA transcription and repair processes, and primarily involves mutations in genes CSA (ERCC8) or CSB (ERCC6).

This rare and inherited disorder causes sensitivity to light, short stature, premature aging, and progressive dementia. It can be broken down into three subtypes: classic (symptoms appearing after one year old and progressively worsening), congenital (symptoms present at birth; severe), or type 3 (mild symptoms appearing later in life).

Additional symptoms associated with this condition include:

• Failure to thrive
• Microcephaly (an abnormally small head size)
• Developmental delays
• Sunburn/blistering after sun exposure
• Inflammation of peripheral nerves
• Hearing and/or vision loss
• Cold hands and feet
• Severe tooth decay

People with this condition can develop life-threatening liver failure following metronidazole use.

Learn more about Cockayne syndrome here.