Gastroenterology Genomic Research

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Gastroenterology Genomic Research

Our gastroenterologists are working with the Genome Center to investigate the genetic causes of gastroenterology disorders and move patients into appropriate treatment.

Genomic Sequencing

Using STAT-Seq, the Genome Center helped gastroenterologists diagnose a critically ill newborn. The quick diagnosis led to immediate treatment with intensive nutritional support to stimulate the newborn’s mitochondria. Physicians were able to rule out other possible diagnoses in a matter of hours, and shape the patient’s treatment within a critical developmental window.

Hereditary Cancers

The combination of the Hereditary Polyposis Clinic and the Genome Center is giving gastroenterologists the ability to investigate genotype and phenotype correlations to determine if a patient may be at risk for a certain type of cancer or a more aggressive form of cancer.

Improving Treatment and Diagnosis

Investigations also are underway to determine if there is anything in a child’s genotype that influences how he/she may respond to a particular therapy or drug. Additionally, exome sequencing is helping gastroenterologists examine the whole-genome of a patient with complex gastrointestinal conditions to diagnose additional genetic complications and prescribe appropriate treatment.

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