The Collaborative Center for X-Linked Dystonia-Parkinsonism (CCXDP) supports an international consortium of scientists, clinicians, and patient advocates working together to advance research and treatments for X-Linked Dystonia-Parkinsonism (XDP), a debilitating neurodegenerative disease caused by a transposable element. CCXDP periodically issues requests for proposals for the Research Funding Program. Three grant mechanisms are offered:

  • Investigator Awards: 2 years, up to $250,000/year in direct costs
  • Exploratory Pilot Grants: 1 year, up to $100,000 in direct costs
  • Postdoctoral fellowships: 2 years, $75,000/year in direct costs

In addition to the amounts listed above, awards will provide 10% indirect costs to recipient institutions.


XDP is a neurodegenerative disorder endemic to the Philippines. CCXDP-funded research studies have shown that XDP is most likely caused by a disease-specific SINE-VNTR-Alu (SVA)-type retrotransposon insertion in an intron of the human TAF1 gene. The SVA contains a hexameric sequence (CCCTCT)n, the length of which is polymorphic among patients and inversely correlated to age of disease onset. The insertion results in aberrant TAF1 mRNA splicing and partial intron retention which decreases levels of the full-length transcript. The neuropathology of XDP has not yet been fully defined, but previous studies have reported a progressive loss of striatal medium spiny neurons in the brains of individuals with XDP.

Available Resources

CCXDP has generated biospecimens and reagents which are available for research studies, including:

  • DNA from XDP patients and unaffected relatives
  • Fibroblasts, lymphoblasts, and induced pluripotent stem cells (iPSCs) from XDP patients and unaffected relatives
  • Post-mortem human brain tissue from XDP patients
  • Novel TAF1 antibodies 
View list of resources

View list of projects

Research Objectives for the 2022 Funding Program

CCXDP welcomes applications from investigators in all disciplines proposing bold and rigorous approaches to the study of XDP. We encourage proposals involving collaborative studies, which can include investigators at different institutions, as well as ones which leverage existing resources. Areas of particular interest include, but are not limited to:

  • Studies of the XDP-specific SVA element, including potential regulation by host cell factors and effects on chromatin, RNA transcription, and/or DNA replication dynamics.
  • Screening projects that develop models and/or assays to seek compounds that modulate XDP-related phenotypes, with emphasis on opportunities for drug repurposing.
  • Studies of the potential role of glial cells in XDP pathogenesis.
  • Development and application of novel XDP model systems, including strategies for (a) studying SVA knock- in and/or TAF1 knockout in animals; and (b) creating 2D and 3D culture models using XDP-specific induced pluripotent stem cells.
  • Studies of post-mortem brain tissue to elucidate potential disease mechanisms.
  • Comparative analyses to identify cellular mechanisms that may be shared by XDP and other neurodegenerative diseases.

Application Timeline

September 30, 2022:  Letters of intent due by 5:00 pm Eastern Time. Abstracts of proposed research may be emailed to aalessi@partners.org.

November 11, 2022: Full applications due by 5:00 pm Eastern Time to aalessi@partners.org.

March - April, 2023: Funding decisions announced (subject to change).

July, 2023: Anticipated project start dates.

Application Materials

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Application Instructions

A list of previously funded projects is available here.

For additional information, contact:

Dr. Amy Alessi, CCXDP Program Director, at aalessi@partners.org

Additional Application Resources

For any questions, please contact Dr. Amy Alessi, CCXDP Program Director, at aalessi@partners.org.