Updated: Feb 1, 2021
FROM OUR PARTNERS AT GENOMENON: Providing Rare Patients, Clinicians and Researchers Alike, A Powerful Tool to Learn More About BPAN
What can we learn from these case studies?
For patients and their families, the assembled case studies represent a broad picture of patient health histories, symptoms (phenotype), severity of symptoms, potential trajectory and progression of the disease and provide key insights on medications and treatments that may have greater efficacy in symptom management.
For clinicians, these case studies provide a tool for developing standardized clinical care guidelines, identifying underlying symptoms and comorbidities that may not be otherwise available and ultimately support a more robust means of supporting patient care and wellness. The case studies also provide concrete information about testing, imaging and survey/assessment tools that will pave the road for a better understanding of the disease, courses of treatment and the application of precision medicine in the treatment of patient symptoms.
For researchers and research acceleration, these BPAN case studies provide critical details and genomic data that lay the foundation for identifying biomarkers and treatment paths. While there is much that still remains to be discovered, what we know today about our BPAN patients is critical to advance research. Health histories, disease progression, studies performed, genomic profiles and data collected are critical components as we advance BPAN research.
With the power of AI technology and the advances in data collection, rapid analysis and the ever-growing understanding of the important role that autophagy plays in diseases of aging, neurodegenerative diseases, cancer, diabetes, cardiomyopathies, immune function and metabolic syndromes, our BPAN community has the ability to leverage the vast amounts of data to our advantage to yield critical finding that will ultimately advance research.
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