Genomic Research in Pediatric Disorders

Pediatric Genetic Disorders and Childhood Cancer

In the United States, 120,000 children are born every year with a genetic disorder or a birth defect. In addition, almost 16,000 are diagnosed with cancer every year. HudsonAlpha Institute for Biotechnology innovates in the fields of genetic and genomic research and biotechnology, including childhood genetic disorders and pediatric cancer. Aside from exploring the basic genetic factors that contribute to these conditions, the Institute is also dedicated to delivering the benefits of its ground-breaking research to patients who desperately need answers.

Childhood genetic disorders

HudsonAlpha researchers have created a model for using information in the genome to identify the genetic causes of developmental delay and unexplained neurological conditions in children. Our goal is to make discoveries that allow physicians to provide a diagnosis to patients and their families. These children have often lived for years with an undiagnosed or misdiagnosed condition, and those who love them have watched them endure tests that provided no answers. To help end that diagnostic odyssey, HudsonAlpha geneticists and bioinformatics experts sequence and analyze the whole genomes of children and their parents – data known as trios. HudsonAlpha genetic counselors then explain findings from the data and what those findings mean to patients and their families. The team of scientists and physicians associated with the research project have delivered answers to more than 130 children and their families in the local region, providing life-changing hope and access to treatments and resources that are best for the child’s specific condition. HudsonAlpha researchers are also working with medical professionals across the state of Alabama and in Mississippi to investigate how whole genome sequencing can help with the diagnosis and care of infants with possible genetic disorders. For more information, view our video about the project at:

Investigating childhood cancer

In addition to research projects in childhood genetic diseases, Institute scientists are working to improve pediatric cancer research and help children who suffer from these terrible diseases. In partnership with St. Jude’s Children’s Research Hospital, HudsonAlpha researchers are leveraging the Institute’s sequencing and analysis expertise to produce high-quality data for the research community that can be used to develop better tools for diagnosing and treating pediatric cancers. This important research is in addition to ongoing work in breast, ovarian, kidney, pancreatic, prostate and kidney cancer and multiple myeloma.

To learn more about genomic research in pediatrics click here to view the 2021-2022 Research Report.