Strategies to Advance Drug Discovery in Rare Monogenic Intellectual Disability Syndromes

Int J Neuropsychopharmacol. 2018 Mar 1;21(3):201-206. doi: 10.1093/ijnp/pyx090.


Some intellectual disability syndromes are caused by a mutation in a single gene and have been the focus of therapeutic intervention attempts, such as Fragile X and Rett Syndrome, albeit with limited success. The rate at which new drugs are discovered and tested in humans for intellectual disability is progressing at a relatively slow pace. This is particularly true for rare diseases where so few patients make high-quality clinical trials challenging. We discuss how new advances in human stem cell reprogramming and gene editing can facilitate preclinical study design and we propose new workflows for how the preclinical to clinical trajectory might proceed given the small number of subjects available in rare monogenic intellectual disability syndromes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Drug Discovery / methods*
  • High-Throughput Screening Assays / methods
  • Humans
  • Intellectual Disability / drug therapy*
  • Intellectual Disability / genetics*
  • Syndrome