Genomics and the Promise of Gene Therapy
When Angela Riddell was in her 20s, her lung capacity diminished due to complications from cystic fibrosis. Thanks to research and genetic testing, she has found a treatment that allows her to be active again and enjoy time with her daughter, Macy.
Cincinnati Children’s Researches the Story Inside Each of Us
Every cell in the body contains an encyclopedia’s worth of knowledge written on our genes. We think of genes as the dictators of our hair color or our height, but they can also determine whether or not we get sick, how well our bodies recover from diseases and how we react to medication.
Angela Riddell can’t read her genetic story, but her doctors can. It was their guide book as they developed a drug to attack a condition that steals not only her breath, but years from her life.
For patients facing life-threatening illnesses, unlocking the secrets of how genes cause or affect disease – known as genomics – means finding life-saving treatments and cures.
For Angela, it meant discovering how medicine could attack the underlying causes of cystic fibrosis (CF), not just its symptoms.
Fighting Deadly Inherited Diseases
Thanks to immense technological advances, we are entering an age of personalized medicine, where physicians will soon be able to look at a person’s genome and predict which diseases she may develop in the future.
“How we use genomics is changing rapidly. We have a good understanding of how genes create problems. Now we are learning how to fix the problems or prevent them altogether,” says Gregory Grabowski, MD, director of the Division of Human Genetics at Cincinnati Children’s.
Researchers at Cincinnati Children’s are making groundbreaking strides in the treatment of genetic diseases. Being able to sequence a child’s genome at birth means that our physicians can start treatments before symptoms or the disease becomes severe. That means children can begin their lives healthier than ever before.
Genomics research is leading to better outcomes for children and adults, like Angela, with CF. This deadly genetic disease affects about 30,000 people in the United States, causing build-up of thick, sticky mucus in patients’ lungs and digestive systems. It’s caused by a single gene, inherited from both parents, and can shorten the patient’s life span to about 40 years.
While a cure for CF has not yet emerged, we are committed to finding the best possible treatments. John P. Clancy, MD, who is now research director of the Division of Pulmonary Medicine at Cincinnati Children’s, helped to lead early research for a new drug that helps Angela breathe easier. Unlike existing therapies, it treats the underlying cause of CF instead of simply controlling symptoms.
Patients like Angela have experienced life-changing results, but only about 4 percent of people with CF respond to this medication. Clancy is trying to improve that percentage and is tracking the drug’s long-term effects and assessing if it can help more patients when combined with other therapies.
New Gene Treatments on the Horizon
Like CF, sickle cell disease (SCD) is caused by the inheritance of a single, defective gene. What if it were possible to simply replace that gene with a healthy one? While it seems like science fiction, it’s a procedure that’s closer to reality than you might think.
Children with SCD suffer from severe pain, frequent hospital stays and restrictions on what they can do outside of the hospital. While a bone marrow transplant from a matched sibling can cure SCD, about 90 percent of patients are not candidates for this treatment and simply have to learn to manage their symptoms.
Until now. Punam Malik, MD, a researcher and hematologist in the Cancer and Blood Diseases Institute at Cincinnati Children’s, has discovered a gene we’re all born with that may be the key in ending the suffering caused by SCD.
Malik’s work could not only transform the lives of thousands of children and adults, but it could also pave the way for a better understanding of how gene therapy – replacing a bad gene with a healthy one in affected cells – could work to treat other genetic conditions.
Looking to the Future
At Cincinnati Children’s, we believe innovative research leads to groundbreaking care, which is why we put research in the heart of our mission and vision – and why we feel strongly that investing in genomics research is key to transforming healthcare.
From basic laboratory research to the transformative potential of gene therapy, Cincinnati Children’s and our partners are providing researchers with the resources and support they need to advance our knowledge of genetic diseases.
The more we know about the underlying causes of genetic mutations and disease, the sooner we can create innovative treatments and cures that will ensure a healthier future for children everywhere.
Advances in the research and treatment of cystic fibrosis are possible because of our long-standing partnership with donors like the 
