Gregory Letter

March 30, 2021

North Carolina Awards Committee
Department of Natural and Cultural Resources
4601 Mail Service Center
Raleigh, N.C. 27699-4600

Dear Committee Members,

I am writing to provide my enthusiastic support for Dr. Priya Kishnani’s nomination for the 2021 North Carolina Award in the Science category.

For the over two decades that I have known Dr. Kishnani, she has become a true leader in developing treatments for rare genetic diseases, providing support for afflicted families, and inspiring trainees to join this field. As primary academic pursuits, Dr. Kishnani continues to revolutionize the treatment of Pompe disease and other glycogen storage diseases, as well as cognative enhancements in Down syndrome. Clearly, Dr. Kishnani has pioneered the translational development and implementation of enzyme therapy for childhood and later-onset Pompe diseases. World-Wide, this singular accomplishment has transformed forever the lives of children and adults afflicted with these uniformly lethal diseases. Indeed, in conjunction with the North Carolina-based Asklepios Biopharmaceuticals Inc., Dr. Kishnani’s development of gene therapy presages a true cure for these diseases as a model for other such diseases.

The impact of this work epitomizes translational research by applying basic science discoveries to clinical trials and spearheading innovative techniques and adjunctive therapies to improve patient outcomes. Moveover, Dr. Kishnani’s creative approaches to addressing and overcomng the shortfalls in such treatments have had major applications, impacts, and improvements in the treatments for other rare lysosomal and metabolic diseases, especially in immune down-modulation of adverse drug effects.

The extensive variability in the phenotypes and responses to therapy have been major challenges in the treatment and care of people with rare diseases. Foremost among Dr. Kishnani’s accomplishments has been the development and implementation of predictive testing for individuals who would be predisposed to severe immune responses to administered agents. Indeed, her creative design of methods for this prediction and toward amelioration of detrimental immune reactions to enzyme therapy have become paradigms in the field of inherited metabolic diseases. These novel and innovative approaches have also become standard in the broad field of biopharmaceutical therapies, as well as in their regulatory review nationally and internationally.

As is clear from her enclosed CV and bibliography, Dr. Kishnani’s work exemplifies the bench-to-bedside model for therapeutic developments. Critically, she has reversed the model by taking clinical outcomes back to the bench to enhance outcomes and advances in the diagnosis, treatment, and management of patients with rare genetic diseases. Rarely in medicine does an investigator take such dedicated and unparalleled efforts to completion to positively transform the lives of people afflicted with lethal diseases and, in addition, revolutionize the field of enzyme therapy through clinical and academic contributions. From my perspective of over 4 decades in the field of Genetics and rare diseases, these accomplishments place Dr, Kishnani in the top 5 academics in these fields world-wide. Her accomplishments over the past two decades also have made Duke University a major beacon for research and treatment of these diseases. Indeed, Dr. Kishnani has been recognized for her work with the 2021 Distinguished Faculty Award from the Duke University School of Medicine and the Duke Medical Alumni Association.

Priya’s passions also include the patients and the students/trainees. She deeply feels that life-time care includes having successful treatments, not mere survival, and she goes beyond the individual academic to those who will be there over time for those patients and families. Her extensive educational and training efforts are well documented, as is clearly visible in her publications and record. Certainly, the “Priya tradition” will continue by these efforts. This is palpable to the affected patients and families as well as colleagues.

Suffice it to say that Dr. Priya Kishnani is an ideal candidate for the 2021 North Carolina Award in the Science category. I give my unreserved support for her nomination.

Sincerely,

Gregory A. Grabowski, M.D.
Professor Emeritus
Departments of Pediatrics, and
Molecular Genetics, Biochemistry and Microbiology
University of Cincinnati College of Medicine and
The Children’s Hospital Research Foundation
Division of Medical Genetics