Browse by Medical Category
Research at Mass General
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:
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.
Director, Center for Rare Neurological DiseasesAssociate Professor of Neurology, , Harvard Medical School
Co-Director, Center for Rare Neurological Diseases
Strategic Network Consultant, Center for Rare Neurological DiseasesDirector of Systems, NCRI
Program Manager, Center for Rare Neurological Diseases
Clinical Research Coordinator, Center for Rare Neurological Diseases
Our goal is to advance translational research that enables new treatments in rare diseases. Different from conventional approaches in academia we focus on identifying knowledge gaps and obstacles early on, so that the process can be streamlined and drug development and trial implementation become feasible.
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 Partners Clinical Trials Site.
Massachusetts General Hospital and the Partners Residency Program are fortunate to be home to one of the oldest and strongest Neurology Training Programs in the country. This provides an opportunity to introduce promising young investigators and clinicians to rare diseases early in their careers.
Dr. Musolino is an Instructor in Neurology at Harvard Medical School and MGH. She investigates how genetically determined endothelial cell-to-cell interactions underlie a broad category of vascular and inflammatory diseases of the brain and could be treated by molecular interventions.
Dr. Seyedsadjadi is a recent and exciting addition to the Neuromuscular Division of Neurology at MGH. He aims to develop imaging biomarker and outcome measures for neuromuscular diseases, deepening our understanding of pathophysiological correlation and aiding in diagnosis, prognostication, and clinical trial implementation.
Dr. Stephen is a neurologist with a special interest in movement disorders, particularly neurogenetic movement disorders such as ataxia, dystonia and Huntington’s disease as well as rare metabolic movement disorders. He is currently faculty at the Massachusetts General Hospital in the movement disorders division, MGH Ataxia Unit and MGH Dystonia Clinic as well as the BWH Performing Arts Clinic .
Dr. Misko is drawn to pediatric neurology, identifying it as one of the great frontiers of medicine and a field in which translational research can flourish. Excited by the combination of research development and clinical care, Dr. Misko is deeply passionate about scientific discovery and treatment of pediatric neurological disorders.
Dr. Wong is a clinical fellow in neuromuscular medicine at Brigham and Women’s and Massachusetts General Hospitals from 2016-2017 with an interest in understanding the role of immunological dysfunction in neurodegenerative neuromuscular disorders – including adrenomyeloneuropathy – and its implications for clinical trials.
Private industry holds crucial knowledge on drug development and regulatory processes. The close proximity of MGH 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 Partners HealthCare 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/ALDConnect.
For information on how to collaborate with the CRND, contact us.
This 2-year fellowship program focuses on discovering, launching, and building important companies that develop breakthrough products for patients with neurologic and psychiatric disorders. These ventures will reinforce a new paradigm of industry-academic partnership to pioneer novel treatments in neurological diseases. For more information on the fellowship and how to apply, click here.
Gene Therapy Program
Gene therapy is an important element of the clinical research being conducted at the CRND and in other groups at MGH. The Gene Therapy Program at MGH serves as a competent resource for investigators developing nucleic acid- or cell-based approaches to disease therapies.
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 MGH 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.
Florian Eichler, MDChairAssociate Professor of Neurology
Maurizio Fava, MDDirector, Division of Clinical Research
Stephanie Seminara, MDAssociate Professor of Medicine, Reproductive Endocrinology
Alan Beggs, PhDDirector, Manton Center for Orphan Disease Research
Jim Gusella, PhDDirector, Center for Human Genetic ResearchDaniel MacArthur, MD<Analytic and Translational Genetics Unit
Luk H. Vandenbergh, PhDSchepens Eye Research Institute, Mass Eye and Ear
Maria Lopez-Bresnahan, MD, MBAVP, Neurology Clinical Development Vertex Pharmaceuticals
Chris Adams PhD, MBAChief Executive OfficerCydan Development Inc.
Phil Reilly, MD, JDThird Rock Ventures
Benjamin Raby, MD, MPHDirector, Pulmonary Genetics Center
Alan Walts, PhDAdvent Life SciencesBusiness Advisor to Henri Termeer
Sagar Uday Nigwekar, MDInstructor in Medicine Department of Medicine
Kathryn J. Swoboda, MD, FACMG Director, Neurogenetics Program
David Alan Sweetser, MDChief of Medical GeneticsAttending Physician in Pediatric Hematology/Oncology
Mark J. Pykett, VMD, PhDPresident & CEOAgilis Biotherapeutics
Jonathan Behr, PhDMarket Sector Leader/Exec in ResidencePartners HealthCare Innovation
Christopher Coburn, VPPartners HealthCare Innovation
Randall Marshall, MDExecutive Medical Director, Neuroscience Retrophin
Alice Tsang Shaw, MD, PhDAssociate Professor,Department of Medicine, Thoracic Cancer Program
John Staropoli, MD, PhDAssociate Medical Director, Rare Disease Innovation UnitBiogen Idec
Timothy Turner, PhDDirector of Translational Medicine/MS/NeurologyGenzyme Corporation
Ottavio Vitolo, MD, MMScPfizer IncSr. Dir., Head of Neuromuscular Clinical Research/ Rare Disease Unit
Yu Liu, MD, PhD. MBASr. Director, Rare Disease Early DevelopmentBiogen
Santiago Arroyo, MD, PhDChief Medical Officer, Boston Pharmaceuticals
Gene Liau, PhDSr. VP, Head of Gene TherapyPrecision Biosciences
Mason Freeman, MDDir., Center for Computational & Integrative Biology (CCIB)/Translational Medicine Group
Shinichiro Fuse, PhDMPM Capital
Susan Ward, PhDThe TAP Collaboration
Yulia Grishchuk, MDResearch FellowMGH Center for Human Genetic Research
Sue Slaugenhaupt, PhDScientific Director, MGH Research Institute
Shuli Kulak, MD, MBSRare Pediatric Diseases – Fortress Biotech, Inc
Jeremy Levin, DPhil, MB BChirCEO, Ovid Theraputics
Gabriela Apiou, PhDDirector, Translational Research Core/MGH
Tatiana Koretskaia, MBADirector of Administration and Finance of the MGH Clinical Research Program
Other Members Include:Irina Antonijevic, MD, PhDConstantine ChinoporosMark Goldberg, MDDonald Johns, MDAlison HoffnagleZongxi Li, PhD
1st Annual Industry-Academia Convocation on Rare Disease Tuesday, March 21st 5pm - 7pm Where: 3rd Floor 675 West KendallPlease RSVP by March 15th to attend the event.
Charcot-Marie-Tooth Association Boston Branch MeetingDr. Reza Seyedsadjadi speaks and answers questions about the MGH Center of Excellence and his ambitions in developing a comprehensive clinic devoted to CMT patients through the MGH neuromuscular center.March 7, 2017
Rare Disease Day Massachusetts State House February 28, 2017 Great Hall24 Beacon StreetBoston MA US 02133
Think Tank on Rare Diseases“Think Tanks” are meetings with representatives from academia, pharma/biotech etc. to discuss programmatic collaboration. Science and industry experts join together to discuss developments in rare diseases.November 18, 2016
MGH Clinical Research Day A chance for MGH investigators to share their work with fellow members of the MGH community.Thursday, October 6, 2016O’Keeffe Auditorium and Bulfinch Tents
Think Tank on Rare Diseases“Think Tanks” are meetings with representatives from academia, pharma/biotech etc. to discuss programmatic collaboration. Science and industry experts join together to discuss developments in rare diseases.September 23, 2016
2016 ALDConnect Annual Meeting is held in San Diego, CA, providing exciting updates in ALD research and patient advocacy.
Florian Eichler, MD is honored as a 2015 RARE Champion of Hope alongside Ben Lenail and Kathleen O’Sullivan-Fortin of ALDConnect for their outstanding collaboration in research and advocacy on behalf of the rare disease community. Federal advisory committee for diseases in newborns voted to recommend the addition of ALD to the national newborn screening list. August 27, 2015
2015 ALDConnect Annual Meeting is held in Boston, bringing together members of the research and patient community to share updates about the organization and recent developments in ALD research.
Kailey WalshClinical Research CoordinatorPhone: 617-643-3799Email: Kwalsh37@partners.org
Other Relevant Resources
Back to Top