The Center for Genetics and Development is creating a future where doctors can use genetic information to identify, plan for and potentially correct genetic defects while a child is still in utero. Center Director Dr. Michael Bamshad and his colleagues have helped develop a breakthrough technique that makes it faster and easier to identify the genes that cause disorders, discovered a number of these genes, and are working toward therapies that disarm genetic disorders and revolutionize pediatric care.
Using exome sequencing to advance genomics
Traditionally, the best way to identify the gene that causes a disorder has been by “mapping” its location in the genome and then sequencing all surrounding genes. This approach often fails because the gene location can’t be found. Bamshad helped pioneer a more efficient alternative – called exome sequencing – that could dramatically accelerate gene discovery.
Bamshad was part of the team that first proved exome sequencing can work to find Mendelian disorders, which are caused by mutations in a single gene. Now, researchers worldwide are following in the team’s footsteps to identify genes behind a wide variety of pediatric health conditions.
Pinpointing the causes of rare genetic disorders
The Bamshad lab has pinpointed the genetic variations that trigger Kabuki syndrome and Miller syndrome and is working to identify the mutations behind a variety of lung diseases, heart defects and other disorders. Knowing which genes help trigger a disorder helps doctors diagnose the condition, anticipate which health problems a patient might develop and counsel parents about their child’s coming health challenges. It also opens the door to new therapies that could repair or replace defective genes.
Using genetics and gene therapy to improve patient care
Center researchers are working to translate their discoveries into real-world practices and therapies that will help mitigate or correct pediatric disorders.
“In 10 or 20 years, we’ll approach healthcare in children very differently,” Bamshad explains. “We’ll have genetic knowledge that will allow us to do more screening and to know whether kids are at risk for conditions like autism before they’re even born. And this will lead to new treatments that reduce the impact of – and potentially cure – health problems affecting children worldwide.”