Pediatric Rare Diseases

Improving the lives of children with rare diseases

Scientist working with Schwann cells
Young girl swinging at the playground
Surface of a protein targeted in NF2

The Indiana Biosciences Research Institute (IBRI) is expanding its scope to include rare pediatric diseases. Many of these diseases are little-understood, have few effective treatment options, and are too rare for large pharmaceutical companies to invest efforts into drug development.

Osteosarcoma and neurofibromatosis type 2 (NF2) are two of our focus areas. We’re working to understand the underlying causes of these diseases and develop new ways to treat them.

NF2 Research

NF2 is a rare pediatric disease that causes benign (noncancerous) tumors to grow along the auditory nerve that carries information between the brain and the inner ear, leading to hearing loss, tinnitus and dizziness. Tumors outside of the auditory system cause cataracts, limb weakness and fluid buildup in the brain.

This disease does not have any highly effective treatments or a cure, and surgical removal of the tumor often leads to serious consequences.

We’re partnering with Wade Clapp, MD, Chairman of the Department of Pediatrics at Indiana University (IU) School of Medicine to explore exactly how and why NF2 happens, and to develop and evaluate new treatments.  Our research includes:

  • Leveraging induced pluripotent stem cell technology, which takes cells from a patient's blood and reprograms them into a model of their disease. This helps scientists test therapies and find solutions that can help people faster.
  • Using bioinformatics to identify medicines developed for other diseases that could be repurposed to treat NF2. 
  • Discovering new therapies in the Dr. August M. Watanabe Drug Discovery Laboratory that could shrink tumors so they can be removed in simpler surgeries with fewer possible side effects.

Pediatric Osteosarcoma

Pediatric osteosarcoma is a rare, difficult to treat bone cancer. The early symptoms include joint and muscle pain, and are often attributed to other conditions. By the time doctors realize a rare form of cancer is causing these symptoms, the disease may be in its late stages. Treatment for osteosarcoma may involve surgery and chemotherapy, and there are few drugs that have been specifically developed for osteosarcoma.

We're partnering with Karen Pollok, PhD, at the IU School of Medicine to better understand the underlying biology of osteosarcoma and develop better treatments. This research is fueled by an innovative approach where we study cells donated by people with osteosarcoma to:

  • Test combinations of medicines to determine whether using multiple medicines can improve our ability to treat this disease.
  • Test various chemotherapy drugs that aim to destroy cancer cells, without harming surrounding tissue.

 

Woman sits holding young sick girl on her lap in hospital room.

Pediatric Rare Diseases Research

Over 90% of rare diseases have no FDA-approved treatments

Pediatric Rare Diseases

“The primary way to treat neurofibromatosis 2 (NF2) hasn’t changed since I was in medical school. These kids, who live in our community, deserve more.”

D. Wade Clapp, MD
Chair of the Department of Pediatrics
Indiana University (IU) School of Medicine

IBRI scientist working in lab

Welcome to Our Open Space Laboratories

The IBRI is a leading translational research institute that advances academic and industry science through collaboration to improve patient health outcomes.