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Welcome to the Center for Integrative Rare Disease Research Most individuals with a rare disease have never met a specialist in their disorder, and care is inconsistent. Quality of life is often extremely poor, and over 1/3 of deaths in early childhood are due to a rare disease. At the Center for Integrative Rare Disease Research, we aim to target this disparity by combining unusual resources with dedication to providing comprehensive care. We partner with academia, industry, and specialist physicians to provide a combination of three components critical for providing hope to individuals with rare diseases: 1. Specialized clinical care for rare diseases, with access to experts in neurology, neuromuscular disorders, and neurogenetics
2. Access to investigational drugs and devices through industry-sponsored research
3. Novel clinical research driven by the needs of patients and caregivers
Our clinical expertise includes: • Autism and Autism Spectrum Disorders
• Rett syndrome and MECP2 related disorders, including CDKL5, FOXG1, MECP2 Duplication syndrome
• Pitt-Hopkins syndrome
• 22q11.2 deletion syndrome
• Muscular Dystrophy
• Spinal Muscular Atrophy
• Intractable epilepsy due to genetic and non-genetic causes
• Coordination and planning for epilepsy surgery
• Focal cortical dysplasia and other disorders of cortical development
• Sleep medicine
• Myotonic dystrophy
• Fragile X syndrome
Our current industry sponsored research targets the following disorders: • Rett syndrome
• CDKL5 syndrome
• Lennox-Gastaut syndrome
• Epileptic encephalopathy associated with Continuous Spikes and Waves during Slow-wave Sleep
• Muscular Dystrophy
Our novel investigator-initiated clinical research studies include: • Development of better rating scales and outcome measures for rare diseases, improving the likelihood that effective interventions will successfully transition to FDA-approved treatments
• Testing of biomarkers that are associated with clinically meaningful changes in studies of new therapeutics
• Development of newborn screening strategies for rare genetic diseases
• Testing and use of novel, wearable technology designed to measure changes in physiologic function relevant to rare disease research and therapeutic mangagement
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| Providing comprehensive care and pioneering new treatments for people with rare neurological diseases | ||
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