In the shadowed corners of medical research, where hope
battles against heartbreaking genetic disorders, a quiet revolution is
unfolding at the National Swine Resource and Research Center (NSRRC) and the
National Swine Testing Center (NSTC). These two NIH-funded swine centers
are located at the University of Missouri, led by Dr. Kiho Lee (NSRRC)
and Dr. Jonathan Green (NSTC).
This work began with a request from Dr. Cecelia Lo, Distinguished Professor
& F. Sargent Cheever Chair of Developmental Biology at the University of
Pittsburgh. Dr. Lo asked the NSRRC to develop a pig model with alterations in
the CDKL5 gene that could mimic CDKL5 Deficiency Disorder (CDD). The NSRRC,
which supports the scientific community by creating biomedical pig models, quickly
took on the challenge and began characterizing the model alongside Dr. Lo and
her team. The NSTC now plays a vital role in testing the safety and
effectiveness of delivering gene-editing therapies in pigs. With both centers
based at the University of Missouri, the process of creating animal models and
testing new treatments is highly streamlined.
For families of children with CDKL5 Deficiency Disorder (CDD) — a
devastating neurological rare disease that robs infants of developmental
milestones and causes relentless epilepsy and delays — time is the fiercest
enemy. Yet the journey toward treatment is long, costly, and often overlooked
by major pharmaceutical companies.
Before any gene therapy can reach patients, it must pass rigorous preclinical
testing. Research typically begins in small animals and cell systems, but
large-animal models are needed to more accurately reflect human brain
development and disease. Pigs are especially valuable because their brain size
and structure are much closer to humans, making them critical models for
understanding complex neurological conditions. Until now, creating such a model
for CDKL5 had proven nearly impossible because of the severity of the disorder.
Thanks to Dr. Lee, Dr. Green, Dr. Lo, and their teams, researchers now have a
living system that mirrors the seizures, developmental challenges, and
neurological features of human CDD — opening an unprecedented opportunity to
test therapies in a meaningful way.
“Having a CDKL5 pig model changes everything,” says Dr. Lee. “It gives us the
ability to study this condition at a level of fidelity we’ve never had before —
bridging the gap between mouse studies and children who desperately need
treatments.”
This breakthrough has been strengthened through collaboration with the Child’s
Cure Genetic Research Foundation, co-founded by Jainu Jogani, who is
leading efforts to bring CDKL5 gene replacement therapy to the clinic. Together
with Missouri’s expertise, the partnership is advancing the use of imaging
technologies like MRI and PET to track disease progression and treatment
response in the same animals over time — reducing the need for animal sacrifice
while deepening insights into long-term therapy effectiveness. Sustaining and
expanding these efforts depends on continued funding, and thanks to the
dedication and vision of Jainu Jogani, this critical work is moving forward
with urgency and purpose.
The implications are profound: for the first time, researchers can test gene
therapy for CDKL5 in a large-animal model that closely mimics the human
condition — including seizures, learning difficulties, and social impairments —
measure its long-term effects, and accelerate the path to clinical trials.
In the race against life-threatening rare diseases like CDKL5 — where many children have tragically lost their lives before reaching their teenage years — speed is everything. Thanks to the University of Missouri and committed partners, the field finally has the tools to close the gap and bring real hope to families who have been told there is none.
#HopeInAction #CureTheUncurable #RaceToRaceCures