Cri du Chat Research Roadmap
5p- syndrome is gaining interest with astute researchers around the world, because
1. Rare but commonly rare- 5p- syndrome is the most common contiguous gene deletion disorder (Niebuhr, 1978)
2. Targetable key genes- The key haploinsufficient genes are targetable.
3. Haploinsufficient- It is a haploinsufficiency no insights from other haploinsufficiencies like Dravet syndrome or SYNGAP1 has will aid this 5p- syndrome research.
4. Treating 5p- syndrome will have impact beyond the 5p- syndrome community. Our target genes impact Autism, Alzheimer’s, dementia and other neurologic & mental health disorders. Insights here could help broader communities.
5. Established Infrastructure- The infrastructure for successful clinical trials either exists or are being established for 5p- syndrome, biomarkers and natural history study including access to a network of engaged clinicians and patients.
6. We are a well-organized & passionate community who would do anything to help our kids.
Major 5p- Syndrome Publications (insert most recent 5p- articles here)
Shen, 2025 10.1002/advs.202415224
Nguyen, 2015 https://doi.org/10.1002/ajmg.c.31444
Mainardi, 2021 10.1186/1750-1172-1-33
Medina, 1999 https://doi.org/10.1006/geno.1999.6090
Overhauser, 1994 10.1093/hmg/3.2.247
Almeida, 2024 10.1186/s13104-024-06734-7
5p- Syndrome Research Roadmap
A Cri du Chat Research Foundation developed a roadmap to ensure our resources are aligned, focused, coordinated.