Center for Rare Neurological Diseases

Center for Rare Neurological Diseases

The Mass General Center for Rare Neurological Diseases (CRND) aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials.

About

Dr. Eichler at meeting
CRND Director Florian Eichler, MD speaks during a team meeting.

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
CRND chart
The CRND embodies a translational approach to research by involving academia, industry, and advocacy and patient groups.

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.

Team

Meet the Team

  • Florian Eichler, MD

    Director, Center for Rare Neurological Diseases
    Associate Professor of Neurology, , Harvard Medical School

  • Sue Slaugenhaupt, MD, PhD

    Co-Director, Center for Rare Neurological Diseases

  • Alexander Sherman

    Strategic Network Consultant, Center for Rare Neurological Diseases
    Director of Systems, NCRI

  • Kailey Walsh

    Program Manager, Center for Rare Neurological Diseases

  • Elizabeth Haxton

    Clinical Research Coordinator, Center for Rare Neurological Diseases

  • Rachel Duong

    Clinical Research Coordinator, Center for Rare Neurological Diseases

  • Peter James

    Clinical Research Coordinator, Center for Rare Neurological Diseases

Research Projects

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.

  • In Preclinical Development: AMN, FD, HSAN1, SOX/MOCD
  • In Clinical Development: LOTS, AMN, MOCD, CTX, Cystinosis, Canavan, (Norrie)
  • Ready for Clinical Trials: CCALD, MOCD, HSAN1, MLD, (NCL)
project chart
The CRND research strategy, focusing on identification of existing knowledge gaps.


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.

Mentorship

CRND Mentors

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.

  • Patricia Musolino, MD, PhD

    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.

  • Reza Seyedsadjadi, MD

    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.

  • Christopher Stephen, MD

    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 .

     

  • Albert Misko, MD

    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.

  • Janice Wong, MD

    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.

Partnerships

Industry Partnerships

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.

Fellowship

third rock

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

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.

Xandra O. Breakefield, PhD
Xandra O. Breakefield, PhD
Casey A. Macguire, PhD
Casey A. Macguire, PhD
Elizabeth Anne Thiele MD, PhD
Elizabeth Anne Thiele MD, PhD
Scott R. Plotkin, MD
Scott R. Plotkin, MD

Our Projects

gene therapy projects

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 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.

Current Members

Florian Eichler, MD
Chair
Associate Professor of Neurology

Maurizio Fava, MD
Director, Division of Clinical Research

Stephanie Seminara, MD
Associate Professor of Medicine, Reproductive Endocrinology

Alan Beggs, PhD
Director, Manton Center for Orphan Disease Research

Jim Gusella, PhD
Director, Center for Human Genetic Research
Daniel MacArthur, MD<
Analytic and Translational Genetics Unit

Luk H. Vandenbergh, PhD
Schepens Eye Research Institute, Mass Eye and Ear

Maria Lopez-Bresnahan, MD, MBA
VP, Neurology Clinical Development
Vertex Pharmaceuticals

Chris Adams PhD, MBA
Chief Executive Officer
Cydan Development Inc.

Phil Reilly, MD, JD
Third Rock Ventures

Benjamin Raby, MD, MPH
Director, Pulmonary Genetics Center

Alan Walts, PhD
Advent Life Sciences
Business Advisor to Henri Termeer

Sagar Uday Nigwekar, MD
Instructor in Medicine
Department  of Medicine

Kathryn J. Swoboda, MD, FACMG
Director, Neurogenetics Program

David Alan Sweetser, MD
Chief of Medical Genetics
Attending Physician in Pediatric Hematology/Oncology

Mark J. Pykett, VMD, PhD
President & CEO
Agilis Biotherapeutics

Jonathan Behr, PhD
Market Sector Leader/Exec in Residence
Partners HealthCare Innovation

Christopher Coburn, VP
Partners HealthCare Innovation

Randall Marshall, MD
Executive Medical Director, Neuroscience
Retrophin

Alice Tsang Shaw, MD, PhD
Associate Professor,
Department of Medicine,
Thoracic Cancer Program

John Staropoli, MD, PhD
Associate Medical Director, Rare Disease Innovation Unit
Biogen Idec

Timothy Turner, PhD
Director of Translational Medicine/MS/Neurology
Genzyme Corporation

Ottavio Vitolo, MD, MMSc
Pfizer Inc
Sr. Dir., Head of Neuromuscular Clinical Research/ Rare Disease Unit

Yu Liu, MD, PhD. MBA
Sr. Director, Rare Disease Early Development
Biogen

Santiago Arroyo, MD, PhD
Chief Medical Officer, Boston Pharmaceuticals

Gene Liau, PhD
Sr. VP, Head of Gene Therapy
Precision Biosciences

Mason Freeman, MD
Dir., Center for Computational & Integrative Biology (CCIB)/Translational Medicine Group

Shinichiro Fuse, PhD
MPM Capital

Susan Ward, PhD
The TAP Collaboration

Yulia Grishchuk, MD
Research Fellow
MGH Center for Human Genetic Research

Sue Slaugenhaupt, PhD
Scientific Director, MGH Research Institute

Shuli Kulak, MD, MBS
Rare Pediatric Diseases – Fortress Biotech, Inc

Jeremy Levin, DPhil, MB BChir
CEO, Ovid Theraputics

Gabriela Apiou, PhD
Director, Translational Research Core/MGH

Tatiana Koretskaia, MBA
Director of Administration and Finance of the MGH Clinical Research Program

Other Members Include:
Irina Antonijevic, MD, PhD
Constantine Chinoporos
Mark Goldberg, MD
Donald Johns, MD
Alison Hoffnagle
Zongxi Li, PhD

 

 

Events & Advocacy

Upcoming Events

1st Annual Industry-Academia Convocation on Rare Disease
Tuesday, March 21st
5pm - 7pm
Where: 3rd Floor 675 West Kendall
Please RSVP by March 15th to attend the event.

RSVP

Past Events

Dr. Eichler and team at Rare Disease day

Charcot-Marie-Tooth Association Boston Branch Meeting
Dr. 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 Hall
24 Beacon Street
Boston 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, 2016
O’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.

 

Contact Us

Kailey Walsh
Clinical Research Coordinator
Phone: 617-643-3799
Email: Kwalsh37@partners.org

Other Relevant Resources

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