UI team receives grant from Children’s Tumor Foundation to study rare genetic disorder

A University of Iowa research team will develop an innovative pig model to better understand a rare genetic disorder called neurofibromatosis (NF) thanks to a $931,395 grant from the Children’s Tumor Foundation (CTF). The funding is part of a three-year, $1.7 million grant that the CTF has awarded to the UI team and their collaborators from Sanford Health and University of Arizona.

The CTF is a not-for-profit organization dedicated to finding effective treatments for the millions of people worldwide living with NF.

Neurofibromatosis 1 (NF1), which affects one in 3,000 people worldwide, is caused by a mutation in the neurofibromatosis type 1 gene. The condition can cause tumors to grow on nerves throughout the body and may lead to blindness, bone abnormalities, cancer, deafness, disfigurement, learning challenges, and disabling pain.

Traditional mouse models of NF1 have had limited success in advancing NF1 research because the mice develop only a few aspects of the disease. Pigs are more similar to humans than rodents and can more closely mimic various human diseases. For example, a pig model for cystic fibrosis has allowed UI scientists to advance understanding of that genetic condition. UI researchers led by David Meyerholz, PhD, associate professor of pathology, will use genetic engineering to create pigs that carry a common human NF1 gene mutation. These genetically modified pigs will be a better animal model for NF1 than mice and will allow researchers to better understand the disease.

“Studying a more authentic animal model of NF1, and doing comparative analyses in NF1 patients, will directly benefit people with NF1 mutations,” says Meyerholz, who is co-principal investigator of the NF1 Synodos Consortium. “We expect that these studies will lead to earlier and more informative diagnoses, as well as more effective targeted therapies to treat individual patients.”

The grant is part of CTF’s Synodos for NF-1 program, a unique partnership of world-class scientists and clinicians from diverse areas of expertise who work together with patients and share information in real time. The result is a faster and a more efficient drug discovery and development process. The collaborative team includes experts in genetics, neuroscience, pathology, medicinal chemistry, molecular biology, cancer and biomedical engineering/imaging.

In addition to Meyerholz, the UI research team includes Ben Darbro, MD, PhD, assistant professor of pediatrics, Dawn Quelle, PhD, associate professor of pharmacology, Jessica Sieren, PhD, assistant professor of radiology, and Adam Dupuy, PhD, associate professor of anatomy and cell biology.

About the University of Iowa Neurofibromatosis Clinic

The Neurofibromatosis (NF) Clinic at University of Iowa Stead Family Children’s Hospital, part of UI Health Care, is a nationally affiliated member of the NF Clinic Network through the Children’s Tumor Foundation and provides care for children and adults. The clinic provides diagnosis and personalized medical management to patients of all ages. The multi-disciplinary team of specialists with experience caring for patients with NF includes ophthalmologists, otolaryngologists, neurologists, neurosurgeons, general surgeons, plastic surgeons, orthopedists, oncologists, psychologists, and interventional therapists.

About Children’s Tumor Foundation

The Children's Tumor Foundation is a 501(c)(3) not-for-profit organization dedicated to finding effective treatments for the millions of people worldwide living with neurofibromatosis (NF), a term for three distinct disorders: NF1, NF2, and schwannomatosis. NF can cause tumors to grow on nerves throughout the body and may lead to blindness, bone abnormalities, cancer, deafness, disfigurement, learning disabilities, and disabling pain. NF affects one in every 3,000 people, more than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. The Children’s Tumor Foundation funds critical research into neurofibromatosis. In addition to benefiting those who live with NF, this research is shedding new light on several forms of cancer, brain tumors, bone abnormalities, and learning disabilities, ultimately benefiting the broader community.