This week Bobbi Conner talks with Dr. Neena Champaigne about advances in treating rare diseases in children. Dr. Champaigne is an Associate Professor in the Department of Pediatrics and Division Chief of Pediatric Genetics at MUSC.
TRANSCRIPT:
Conner: I'm Bobbi Conner for South Carolina Public Radio with Health Focus here at the radio studio for the Medical University of South Carolina in Charleston. Certain rare diseases in children can be detected prenatally through genetic screening or shortly after birth with newborn screening. Doctor Neena Champagne is here to provide the details. Doctor Champaigne is a Clinical Associate Professor in the Department of Pediatrics, and she's Division Chief of Pediatric Genetics at MUSC. Doctor Champagne, what is considered a rare disease.
Dr. Champaigne: A disease is considered rare if it affects fewer than 200,000 people at any given time. It's estimated that there are at least 10,000 different rare diseases affecting 1 in 10 people. That translates to 300 million Americans, or half a million individuals in South Carolina.
Conner: Tell us more details about how certain rare diseases are actually detected prenatally or at birth.
Dr. Champaigne: There are several strategies that we can use for identification of rare disease before pregnancy. Women and their partners can undergo carrier testing for different genetic conditions during the pregnancy. Ultrasound done at 20 weeks may detect physical differences that are suggestive of an underlying genetic condition at birth. We have newborn screening. That is another strategy to identify infants with over 50 different genetic conditions that have medical interventions or treatments. And lastly, we are now routinely using rapid genome sequencing in the intensive care unit to identify individuals who are critically ill and have a genetic condition.
Conner: Doctor Champagne, tell us about using gene therapy as a treatment for some rare diseases in children.
Dr. Champaigne: So, gene therapy is an exciting new development in our ability to treat rare diseases. Gene therapy is like a genetic fix for these conditions that are caused by genes that are not functioning properly. The strategies that we have for gene therapy include providing a working copy of the gene to an individual. We can also turn off a gene that is not working properly and causing harm. Lastly, we can edit a gene to correct the non-working copy of that gene.
Conner: How many different types of gene therapy exist?
Dr. Champaigne: So, we currently have 22 approved FDA gene therapies. However, we expect that at least 10 to 20 gene therapies will be approved per year for the next few years. And we have over 500 different gene therapies that are currently in development.
Conner: And what's involved in gene therapy as a treatment for kids with a rare disease.
Dr. Champaigne: There are different ways that we can administer the gene therapy. For some, it's simply a one hour IV infusion that replaces the gene via a viral vector. The more complicated gene therapies are only performed at specialty centers, and require editing of an individual's cells that are then returned as a bone marrow transplant.
Conner: Does gene therapy provide a cure in some of the cases of rare diseases?
Dr. Champaigne: So, some gene therapies do provide a cure, but others work to just decrease the symptoms or slow the progression of that particular condition.
Conner: Doctor Champagne, thanks for this information about rare diseases in children.
Dr. Champaigne: You're very welcome.
Conner: From the radio studio for the Medical University of South Carolina in Charleston, I'm Bobbi Conner for South Carolina public Radio.
Health Focus transcripts are intended to accurately represent the original audio version of the program; however, some discrepancies or inaccuracies may exist. The audio format serves as the official record of Health Focus programming.
