Dr. Kaufmann’s contributions have been on the diagnosis, pathophysiology, neuropathology and treatment of autonomic abnormalities in patients with neurodegenerative disorders. His research has focused on the relationship between autonomic disorders and movement disorders for over 20 years. He published the first complete neuropathological description of pure autonomic failure, showing Lewy bodies in the peripheral autonomic nerves. His group performed seminal studies of the vasoactive peptides endothelin, atrial natriuretic peptide and vasopressin in patients with autonomic synucleinopathies and reported evidence of end-organ target damage as a consequence of supine hypertension in patients with autonomic failure.
Dr. Axelrod has focused her work on understanding and treating hereditary sensory and autonomic neuropathies. She centralized the care of patients with FD at Center and helped establish a satellite center in Israel at Hadassah Mt. Scopus to follow 30% of FD population living outside the US. The Centers follow 600 patients with FD, the majority of whom are known from birth. In collaboration with a Harvard University team headed by James Gusella, Dr. Axelrod identified the responsible genetic mutation in FD, which lead to prenatal testing and global population screening that has successfully reduced the number of new cases to less than 5 per year worldwide. In continued collaboration with Harvard University she is now undertaking clinical trials of a compound that corrects the mis-splicing defect to assess whether these therapies can improve the clinical prognosis in this patient population.