Explore This Center


The Orphan Drug Act of 1983 defines a rare disease as a disorder or condition that affects fewer than 200,000 persons in the United States. The Center for Rare Neurological Diseases (CRND) focuses on rare diseases of the monogenic type, in which a single gene defect causes disruptive neurological symptoms. The stringent molecular definition of these diseases provides the researcher with an opportunity to leverage unique biology toward scientific discovery.

The CRND seeks to advance treatment of rare diseases and empower the rare disease community. We achieve this through:

  • Advancement of research through biological insight 
  • Mentorship of young investigators willing to engage with rare diseases
  • Devotion to translational research, from bench to bedside
  • Exploration of partnerships and collaborations with academia, patients, and industry

Our Mission

The CRND creates new opportunities to improve the lives of those affected by rare, monogenic neurological disorders by leveraging the unique strengths of these centers, building new alliances based on insights from genomics and biology, patient knowledge and unmet needs, and the advantages of technology, innovation, and expertise.

Our Vision

The CRND envisions a paradigm shift in research and treatment of rare diseases. We endeavor to empower patient populations previously isolated by their rare diseases. Through mentorship, collaboration, and targeted research, the CRND facilitates early proof of concept studies and clinical trials. Together, we are striving to improve the lives of those affected by understudied and newly discovered neurological disorders.

Research Projects

The goal of the CRND is to discover new treatments of rare diseases through translational research. Unlike traditional approaches in academic research, we focus on early identification of knowledge gaps, allowing for a streamlined drug development and trial implementation.

Our current projects:

  • In Preclinical Development: Neurometabolic Diseases of the Newborn, Neurocutaneous Disorders, and Hereditary Neuropathies
  • In Clinical Development: Lysosomal Disorders and Leukodystrophies
  • Ready for Clinical Trials: Leukodystrophies, Poliodystrophies, and Hereditary Neuropathies

Motivated patient communities and the Neurological Clinical Research Institute contribute to accelerated recruitment and trial implementation through the CRND. The Translational Research Center provides additional services to help facilitate Phase I and II clinical trials. For more information about our current clinical trials and enrollment, please visit the NIH Clinical Trials Registry or the Mass General Brigham Clinical Trials site.


Industry Partnerships

Private industry holds crucial knowledge on drug development and regulatory processes. Massachusetts General Hospital proximity to many innovative companies with a shared interest in scientific discovery provides an ideal opportunity for partnership. By de-risking early phase development for rare disease therapies, the CRND makes these conditions attractive for industry engagement and investment. Teaming with Mass General Brigham Innovation helps the CRND work in concert with private industry.

Patient Advocacy Partnerships

Patient engagement is essential for drug development in orphan diseases. We seek to overcome the hierarchies of conventional patient-doctor relationships, encouraging mutual listening and sharing of knowledge and insight within the clinic.

We currently partner with many patient advocacy groups, including the National Tay Sachs and Allied Disease Foundation, the Cystinosis Research Foundation, the Mucolipidosis Type IV Foundation, and Stop ALD/ALD Connect.

Contact us for information on how to collaborate with the CRND.

Gene Therapy Program

Gene therapy is an important element of the clinical research being conducted at the CRND and in other groups at Mass General. The Gene Therapy Program at Mass General serves as a competent resource for investigators developing nucleic acid- or cell-based approaches to disease therapies.

Current Gene Therapy Research Topics

Researchers: Eichler, Maguire
Delivery Vector: AAV9
Stage: Preclinical/pre-IND meeting/industry support

Alzheimer's Disease
Researchers: Hudry, Hyman
Delivery Vector: AAV
Stage: Preclinical

Alzheimer's Disease
Researchers: Tanzi, Maguire
Delivery Vector: Exo-AAV

Hereditary Deafness
Researchers: Corey, Maguire
Delivery Vector: AAV, exo-AAV
Stage: Preclinical

Researchers: Plotkin, Breakefield, Maguire, Ramesh et al
Delivery Vector: AAV
Stage: Preclinical

Researchers: Maguire, Badr
Delivery Vector: AAV, exo-AAV
Stage: Preclinical

Muscular Dystrophy
Researchers: Wheeler, Maguire
Delivery Vector: AAV, exo-AAV
Stage: Preclinical

Researchers: Breakefield, Brenner
Delivery Vector: AAV1
Stage: Preclinical/pre-IND

Researchers: Brakefield, Maguire, Keneki
Delivery Vector: AAV
Stage: Preclinical

Researchers: Breakefield, Maguire
Delivery Vector: AAV
Stage: Preclinical

CRND Think Tank

Collaboration and communication are crucial elements of scientific progress, especially in the rare disease field. In an effort to bring together rare disease experts from across departments, hospitals, and private industry, the CRND participates in quarterly “Think Tank” meetings sponsored by the Mass General Research Institute’s Division of Clinical Research. These strategic discussions give clinical researchers the opportunity to share developments and collaborate with companies invested in the rare disease space.