DNA and Developmental Disorders

Alex Paciorkowski is a pediatric neurologist and geneticist. He works with children with severe developmental disabilities who suffer from infantile spasms, epilepsy, autism, and other conditions for which a cause is unknown.

child'sbuilding blocks with the letters A T G C representing DNAMany of these children also have other medical complications, including sleep issues, feeding problems, and breathing difficulties. Finding treatments and therapies for any of their conditions is a challenge. 

Paciorkowski uses gene sequencing to try to understand the possible genetic causes of a disorder. For him, it is like looking for a needle in a haystack—identifying that one gene that does not fit and is causing all the problems. He uses bioinformatics—the retrieval and analysis of biological data using mathematics and computer science—to study genomes. The University has some distinct Big Data-related advantages to assist this process, such as an in-house sequencing resource at the Genomic Research Center, the rich computational expertise at the Center for Integrative Computing, and an expansive child neurology unit.

For families, Paciorkowski’s work gives them more knowledge about where their child’s disorder came from. Armed with the right genetic information, practitioners may one day be able to come up with the right drugs and best therapies to improve a patient’s quality of life. 

Photo by dullhunk is licensed under CC BY 2.0

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