Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Correspondence
  • Published:

NINDS launches network to develop treatments for ultra-rare neurological diseases

Nature Biotechnology volume 39, pages 1497–1499 (2021)Cite this article

Subjects

To the Editor — Rare and ultra-rare diseases affect millions of people worldwide. When treatments exist, they are usually directed at the symptomatic level rather than at the mechanistic basis of the disease. However, because many rare disorders stem from single-gene variations, they may be addressable using rapidly maturing genetic technologies, such as antisense oligonucleotides, small interfering RNAs, gene therapy and gene editing; indeed, a Comment in your June issue highlighted a not-for-profit initiative to address ultra-rare diseases using disease-modifying antisense oligonucleotides1. Although gene-based therapy for neurogenetic disorders remains in its infancy (with existing questions related to safety and efficacy), it may offer therapeutic opportunities for conditions that currently have few or no existing treatment options. Against this background, the US National Institute of Neurological Disorders and Stroke (NINDS) is launching a new program — the Ultra-rare Gene-based Therapy (URGenT) network — that will support the development of gene-based treatments for rare and ultra-rare diseases. The expectation is that such tailored treatments will result in improved patient outcomes for these diseases.

Set by national and regional governing and regulatory bodies, the definitions of rare diseases vary worldwide. Across jurisdictions, the average prevalence worldwide is about 40–50 cases per 100,000 people2. Ultra-rare diseases are even less common, by one — or even two — orders of magnitude. It would be wrong, though, to think of them as minor problems. There currently are around 7,000 known rare and ultra-rare diseases, which are estimated to cumulatively affect about 4–6% of the world’s population3. Furthermore, around one sixth of the known rare and ultra-rare diseases are neurological disorders4, and almost 90% of rare disorders can occur in children3. The current standard-of-care for many of these diseases remains at the symptomatic level, with consequent life-long disabilities and even early mortality. Tragically, there are few approved treatments that target the root causes of these diseases. Given the rapid progression that occurs with many rare diseases, individuals, families and advocacy organizations are eager to see progress.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Overview of the URGenT network.

References

  1. Crooke, S. T. Nat. Biotechnol. 39, 671–677 (2021).

    Article  CAS  Google Scholar 

  2. Richter, T. et al. Value Health 18, 906–914 (2015).

    Article  Google Scholar 

  3. Nguengang Wakap, S. et al. Eur. J. Hum. Genet. 28, 165–173 (2020).

    Article  Google Scholar 

  4. Orphanet. Orphadata: free access data from Orphanet, http://www.orphadata.org/cgi-bin/index.php (Orphanet Inserm US14, 2011).

  5. Nassar, S. F. et al. Cells 9, 2056 (2020).

    Article  CAS  Google Scholar 

  6. Tan, L., Jiang, T., Tan, L. & Yu, J. T. Ann. Transl. Med. 4, 104 (2016).

    Article  Google Scholar 

  7. Wetterstrand, K. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP), https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data/ (7 July 2021)

  8. Kim, J. et al. N. Engl. J. Med. 381, 1644–1652 (2019).

    Article  CAS  Google Scholar 

  9. Otani, Y. et al. Clin. Cancer Res. 26, 2381–2392 (2020).

    Article  CAS  Google Scholar 

  10. Shababi, M. et al. Mol. Ther. 24, 855–866 (2016).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA

    Nina F. Schor, Amir P. Tamiz, Walter J. Koroshetz, Julia L. Bachman, Chris Boshoff, Janice Cordell, Neel T. Dhruv, Amelie Gubitz, Adam L. Hartman, Genevieve E. Lind, Codrin I. Lungu, Jill A. Morris, Glen H. Nuckolls, Shantadurga Rajaram, Ranga Rangarajan, Rebecca A. Roof, Mario H. Skiadopoulos, Natalia Strunnikova, Ling M. Wong, Clinton B. Wright & Ann-Marie Broome

Authors
  1. Nina F. Schor
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Amir P. Tamiz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Walter J. Koroshetz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ann-Marie Broome
    View author publications

    You can also search for this author in PubMed Google Scholar

Consortia

NINDS Ultra-Rare Gene-based Therapy (URGenT) Working Group

  • Julia L. Bachman
  • , Chris Boshoff
  • , Ann-Marie Broome
  • , Janice Cordell
  • , Neel T. Dhruv
  • , Amelie Gubitz
  • , Adam L. Hartman
  • , Walter J. Koroshetz
  • , Genevieve E. Lind
  • , Codrin I. Lungu
  • , Jill A. Morris
  • , Glen H. Nuckolls
  • , Shantadurga Rajaram
  • , Ranga Rangarajan
  • , Rebecca A. Roof
  • , Nina F. Schor
  • , Mario H. Skiadopoulos
  • , Natalia Strunnikova
  • , Amir P. Tamiz
  • , Ling M. Wong
  •  & Clinton B. Wright

Corresponding author

Correspondence to Ann-Marie Broome.

Ethics declarations

Competing interests

The authors declare no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Schor, N.F., Tamiz, A.P., Koroshetz, W.J. et al. NINDS launches network to develop treatments for ultra-rare neurological diseases. Nat Biotechnol 39, 1497–1499 (2021). https://doi.org/10.1038/s41587-021-01125-w

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41587-021-01125-w

This article is cited by

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research