SHORT ANSWER
Advances and Answers in Pediatric Health
Medicine for the Future
NEUROLOGY
Children ’ s Hospital Colorado is partnering with the GRIN2B Foundation to open a new center focused on developing a standard of care for patients with genetic conditions related to ionotropic glutamate receptors , known as GRI disorders . This will be the first GRI Center of Excellence in North America . These GRI variations cause a range of neurodevelopmental disorders with symptoms such as low muscle tone , gross and fine motor disabilities , seizures and limited speech .
The team ’ s research efforts focus on genetic sequencing and personalized care . Kristen Park , MD , who serves as the Center ’ s director , says that while more still needs to be explored about these rare conditions , this area of medicine has grown significantly over the past several years .
“ It ’ s snowballed into this big path of discovery ,” Dr . Park says . “ At our hospital , as we ’ ve taken up genetic testing as a big part of diagnosis and management for epilepsy in the pediatric population , we have identified more and more kids [ with these GRI conditions ].”
Now , the Center will take those efforts to the next level and formally bring together a multidisciplinary team of specialists from a nurse coordinator , neurologist and genetic counselor to a developmental pediatrician , speech therapist and social worker . The Center will begin seeing patients with these rare genetic variations in May 2023 , thanks to a generous donation from the GRIN2B Foundation .
“ The Center is starting to make connections , centralize treatment and provide families with expertise if they live in an area where they did a genetic test , but they don ’ t understand that result ,” Dr . Park says .
In addition to providing comprehensive , multidisciplinary care to GRI patients , the Center will also participate in a natural history data collection effort and collaborate on groundbreaking clinical research as experts seek to understand more about these rare conditions .
“ To me , the best thing about it is how many people are coming together from so many different places to make change and progress happen ,” Dr . Park says . “ You have the scientist in the lab , the clinicians who are caring for patients face-to-face , families who are raising money , awareness and connecting people so we can get all this data . We have a lot of investment from people to make this happen , and I think that is the way of medicine for the future .” •
KRISTEN PARK , MD
Director of the Pediatric Epilepsy Fellowship and Director of the GRI Center of Excellence , Children ’ s Hospital Colorado
Associate professor , Pediatrics-Neurology , University of Colorado School of Medicine
Advancing a Vision
OPHTHALMOLOGY
Children ’ s Hospital Colorado is now home to the first pediatric genetic eye disease clinic in its seven-state region . Emily McCourt , MD , will oversee research and treatment at the clinic as the inaugural Ponzio Family Chair for Pediatric Ophthalmology .
Now , children with rare eye diseases can visit a range of specialists , including ophthalmologists , retina dystrophy specialists , geneticists and genetic counselors at the same visit . Uniting these experts in a single location isn ’ t just convenient for families ; it also fosters communication that ’ s essential for advancing research .
“ The endowed chair gives us the ability to have a collaborative clinic ,” Dr . McCourt says . “ It sets the groundwork for customized gene therapies and other innovative ways to diagnose and treat genetic eye disease . Combining our knowledge and treating patients together creates a deeper understanding of these conditions , which is essential to preventing and curing blindness in children .”
When the endowed chair was finalized in January 2023 , Dr . McCourt and her team established an inherited retinal disease registry in collaboration with the University of Colorado School of Medicine ’ s Division of Ophthalmic Epidemiology . The registry , which is poised to be the largest of its kind in an academic setting , will assist researchers in understanding which inherited diseases , such as retinitis pigmentosa , are more common in Colorado — and how they can best be treated .
In the few short months that the clinic has been seeing patients , the team ’ s work has already proven life-changing . On their first day , Dr . McCourt ’ s team diagnosed a rare , yet treatable genetic condition .
“ We made a diagnosis that could save a child ’ s life ,” Dr . McCourt says . “ This added to the momentum and excitement we have about seeing children with genetic eye diseases as a collaborative team .” •
EMILY MCCOURT , MD
Chief of Pediatric Ophthalmology , Children ’ s Hospital Colorado
The Ponzio Family Endowed Chair for Pediatric Ophthalmology
Vice Chair of Pediatric Ophthalmology , associate professor , Ophthalmology , University of Colorado School of Medicine
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