female child with physician

Where Clinical Care and Research Collide: Rare Diseases

Author
Rene Pierpont, PhD, LP, Assistant Professor of Pediatrics
September 23, 2022

About our Rare Diseases Clinical Team

All of our faculty members in Pediatric Neuropsychology provide clinical evaluations for our rare disease patients. Because many patients with rare diseases present with characteristics of autism spectrum disorder, faculty clinicians in the Autism & Neurodevelopmental Disorders Clinic also routinely work with this population. Our trainees, psychometrists, and other MIDB staff have become experts at working with patients with complex medical and neurological differences which can substantially affect areas like communication, sensory function, and mobility.

Who We Serve

Rare diseases encompass a wide range of genetic conditions, many of which have considerable impact on the development and functioning of the brain.

Our team frequently works with patients who have neurogenetic conditions (e.g., neurofibromatosis type 1, Noonan syndrome, Fragile X syndrome) which are associated with medical, cognitive, behavioral features. Additionally, because the University of Minnesota is a major center for treatment of rare pediatric neurometabolic disorders (e.g., lysosomal storage diseases, leukodystrophies), we conduct pre- and post-treatment evaluations to track a child’s functioning over time as they receive and recover from life-saving therapies.

Our goal is to connect patients with behavioral supports and educational resources, and to ensure that the neuropsychological implications of these diseases are not overlooked. To provide the families with the best possible care, our team collaborates closely with clinicians in other pediatric specialties such as genetics, neuro-oncology, endocrinology, neurology, and blood and marrow transplantation.

How our Rare Diseases Team Intersects with MIDB's Research, Education, and Advocacy

Our team’s clinicians are actively conducting cutting-edge research on rare disease. MIDB provides increasing opportunities for interaction between providers and researchers working with rare patients, enabling us to form the Neurodevelopmental Program in Rare Disease (NPRD). NPRD investigators, listed here, have been awarded numerous grants, publications, and invited talks at major conferences to fund and disseminate our rare disease research.

The team’s involvement in education and advocacy is demonstrated through our contributions to public health policy discussions, white papers, podcasts, children's books, patient/advocacy group meetings, advisory boards, international educational meetings, and clinician trainings. When working with rare diseases, the family and community connections are paramount to progress.

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