Hunter James Kelly Research Institute - Extramural Research
When the Foundation began funding research to ultimately find a cure for Krabbe and Leukodystrophies, studies and investigations were scattered across many universities and many research teams.
To give such important research a focus, the Hunter James Kelly Research Institute was developed, in conjunction with the University at Buffalo School of Medicine.
The majority of funding available for research from the Hunter's Hope Foundation supports basic science and clinical projects at the HJKRI.
We know, however; that research teams in various locations throughout the world continue their efforts to help those affected by Krabbe and Leukodystrophies. Therefore, through HJKRI, we continue to fund important and promising extramural research projects.
Our greatest desire is for a cure for these horrible disorders, and our hope is that researchers throughout the world continue to work together to accomplish this.
Research Projects Currently Funded
Screening for Krabbe and Other Rare Neurometabolic Disorders in MS Patients
Mount Sinai School of Medicine
Dr. James Weisfeld-Adams
The purpose of this study is an evaluation of newborns screening
positive for various inherited metabolic diseases. In conjunction with
Dr. Melissa Wasserstein, also with Mount Sinai School of Medicine, this
is a pilot study looking at the utility of screening for adolescent and
adult onset variants of leukodystrophies, neuronopathic lysosomal
storage diseases, and other Mendelian neurometabolic disorders (Krabbe,
MLD, Alexander Disease, ADLD, Fabry, PLP1 Disease, GM2 Gangliosidosis)
in a selected cohort of patients seen in adult neurology clinics and
carrying possible erroneous diagnoses of other disorders (multiple
sclerosis, parkinsonism, dementia).
This project was originally conceived on the back of preliminary data from Krabbe newborn screening in the state of New York, which suggests
that late onset Krabbe Disease may account for a higher proportion of
the total number of cases than was originally appreciated.
The results of this pilot study could provide important information
about the prevalence and natural history of Krabbe Disease and other
leukodystrophies, and we anticipate that the clinical spectrum of many
of these diseases is wider than has been previously recognized.
Knowledge of the natural history of these diseases serves as a guide for
expanded newborn screening policy, and availability of treatments is
Pharmacological Strategies for Preventing Damage that Occurs in Krabbe Disease
Rochester Institute of Technology
Dr. Mark Noble
The goal of our
research is to reduce – and preferably prevent entirely - the damage that
occurs in Krabbe disease (KD). At a
minimum, the hope of this research is to improve the quality of life for
children with KD. Our central mission,
however, is to develop therapies that will become critical parts of the
ultimate treatment of KD.
reasons, we have focused our efforts on discovery of pharmacological strategies
for preventing the damage that occurs in KD, with a particular focus on
discovering new uses of drugs already approved by the FDA or equivalent
regulatory agencies in other countries.
The multiple research teams working on bone marrow transplantation (BMT)
and gene therapy for KD have brought these approaches to a point where the
potential value and limitations of these approaches is well understood. The
risks of BMT and the long period of time that will elapse before gene therapy
becomes possible emphasize the need for discovery of approaches that can be
implemented more safely and rapidly. No
approach is better suited for this than that of discovering new uses of
existing pharmacological approaches. By
taking advantage of the fact that most, if not all, drugs have multiple
mechanisms of action this approach enables the discovery of new uses of agents
that already have been shown to be safe in humans and for which extensive
information exists on dosage and safety.
Moreover, only pharmacological approaches offer the possibility of
affecting every cell in the body.
For a list of past research projects funded by Hunter's Hope Foundation, please visit our Historical Research page. For more information on extramural research projects and funding, please email email@example.com.