IMMUNOLOGY
PRECISION MEDICINE
The Root of the Problem
How are pediatric immunology researchers at Children ’ s Hospital Colorado accelerating discovery for patients with extremely rare , complex conditions to promote international collaboration and care across the lifespan ?
Multiplexed ion beam imaging analysis of kidney biopsies
For the past decade , Elena Hsieh , MD , Cullen Dutmer , MD , and the immunology team at Children ’ s Colorado have been building a center of excellence to identify genetic abnormalities that lead to immunologic diseases , known as inborn errors of immunity . The team is treating and studying these extremely rare pediatric diseases — even ones affecting just a single patient worldwide — to build a deeper understanding of the immune system . By identifying the root of the problem , doctors are able to apply these findings to impact more common diseases as well .
For doctors at Children ’ s Colorado , the rare is common — and this is especially true for the immunology team .
“ By studying rare immune diseases , we actually can apply knowledge that enlightens a very unique rare disease to benefit a group of disorders that , at the symptom level , manifest similarly ,” Dr . Hsieh says .
The work of the immunology team involves precision medicine , case-by-case research and treatment discoveries . Dr . Hsieh says they are able to go from novel discoveries to influencing patient outcomes in a matter of two to three years , when traditionally this research process could take up to a decade . The team does this by starting with the “ guilty ” mutated gene and understanding how it impacts the immune system by performing a multitude of research assays on the patient ’ s cells , cell lines derived from patients and animal models .
Dr . Hsieh shares the example of a patient she might see with a particular gene defect , which maybe only five people in the entire world have . The patient may have a cytomegalovirus infection , but also an aggressive form of inflammatory bowel disease . Through studying that specific , “ guilty ” gene , she now understands how that gene plays an important role in overall gut health . Now , she can target different therapies to that specific gene that could improve gut health overall and help a larger group of kids .
“ It is really about adapting that discovery to a whole bucket of diseases ,” Dr . Hsieh explains . “ We can help develop therapies in that arena because now we just have a new target . It ’ s this concept of going from rare to common and how we see pediatric immunology research being important .”
Children ’ s Colorado now has one of the largest pediatric immunology groups in the country , allowing for a wider breadth of expertise to care for patients . Drs . Hsieh and Dutmer are joined by Pia Hauk , MD , and Jordan Abbott , MD , to make up the immunology
4 | CHILDREN ’ S HOSPITAL COLORADO