Childhood Genetic Disorders

Two out of every 100 children are born with an intellectual or physical disability or developmental delay, many of which arise from genetic factors. These children, their families and their physicians often cannot make a diagnosis or identify the cause. Prior to genomic sequencing being available, diagnoses have been delivered to only 10 to 15 percent of affected children.

Revolutionary DNA sequencing and analysis techniques pioneered at HudsonAlpha are now being applied to families with affected children in a large-scale, NIH-funded research project that inspires hope that diagnoses are in reach, and with them, new possibilities for treatment.

The Clinical Sequencing Exploratory Research (CSER) program is a consortium of many minds working together to advance human health through the science and study of genomics. Formed by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), CSER brings together scientists, scholars, ethicists, clinicians, bioinformaticians, and patients to drive projects that innovate how genomic sequencing is applied in clinical care. HudsonAlpha is contributing with research focusing on genomic diagnoses for children with developmental delay.

HudsonAlpha faculty investigators Richard Myers, Ph.D., Greg Barsh, M.D., Ph.D., Greg Cooper, Ph.D., Neil Lamb, Ph.D, Shawn Levy, Ph.D., and genetic counselor Kelly East are working with physicians, scientists and genetic counselors at partner institutions to sequence the genomes and exomes of hundreds of North Alabama children and their families. In many cases, the specific changes to the patient’s DNA causing the delay or disease can be identified.

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