Exome Sequencing
Esophageal Achalasia
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March 2016 Affiliated with Columbia University College of Physicians and Surgeons and Weill Cornell Medical College
Exome Sequencing Reveals Underlying Disease That Tailors Treatment

The notion of precision medicine can be traced back to Hippocrates’ famous quote: “It is far more important to know what person the disease has than what disease the person has.” Yet 2,500 years later, traditional standard care practices rely primarily on a “one-size-fits-all” approach, which can prove ineffective when rare and misunderstood diseases present themselves.

  New eHRM Measurement Aids in Diagnosing Esophageal Achalasia in Children

As a rare condition, esophageal achalasia is one of the most challenging motility disorders to diagnose and treat within the realm of pediatric gastroenterology. Normalized esophageal manometry parameters in children are lacking and adult data are used in its place. However, the team at NewYork-Presbyterian Hospital/Phyllis and David Komansky Center for Children’s Health at Weill Cornell Medical Center is spearheading establishing eHRM parameters for evaluating motility abnormalities within the lower esophageal sphincter.

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