DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Seckel syndrome 1 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSeckel syndrome 1 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for seckel syndrome 1 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
ATR checkpoint kinase (ATR) — ATR is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet agsdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 23FC · 2.7 Å · ligand PHOSPHOTHIOPHOSPHORIC ACID-ADENYLATE ESTER (AGS). Experimental structure, not a prediction.
What the evidence adds up to
A six-year-old boy with Seckel syndrome and aplastic anaemia received an allogeneic bone marrow transplant from a ten-of-ten HLA matched unrelated donor. By day 771 post-transplant he was in good health with no further complications. The authors of that 2014 case report concluded that bone marrow transplantation is an acceptable therapeutic option when Seckel syndrome is complicated by haematological alterations. No other patients were reported in that study.
A separate 2019 report described a seven-year-and-three-month-old boy with proportionate dwarfism, microcephaly, a bird-head appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose, microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were phenotypically normal. The boy carried compound heterozygous mutations in the CEP152 gene: c.1535T>A (p.L512X) and c.3346-5T>C (splicing), inherited from his mother and father respectively. Those mutations were newly described and expanded the known spectrum of CEP152 mutations.
A 2017 review noted that Seckel syndrome has an incidence of roughly 1 in 10,000 and is characterised by proportionate dwarfism of prenatal onset, severe microcephaly, bird-headed appearance, mental retardation, and skeletal defects. Abnormalities have been described in the cardiovascular, haematopoietic, endocrine, gastrointestinal, and central nervous systems. Psychomotor development is usually poor. No treatment beyond supportive care and the single transplant case was discussed.
What remains missing is any controlled trial of any intervention, any evidence for drug therapy, any systematic data on long-term outcomes after transplant in this population, and any stratification of patients by genotype or haematological status. Funding for natural history studies and for prospective registries is absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Advances in Dermatology and Allergology · 2015 · 6 citations · open access
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature
AbstractENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Kilic A, Çakmak S, Tuncali T, et al. Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2015;32(6):470-474. doi:10.5114/pdia.2015.56102. APA Kilic, A., Çakmak, S., Tuncali, T., Koz, O., Ozhamamci, E., & Yasun, O. et al. (2015). Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 32(6), 470-474. https://doi.org/10.5114/pdia.2015.56102 Chicago Kilic, Arzu, Seray Külcü Çakmak, Timur Tuncali, Ozlem Koz, Esra Ozhamamci, Oztan Yasun, and Ferda Artuz. 2015. "Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 32 (6): 470-474. doi:10.5114/pdia.2015.56102. Harvard Kilic, A., Çakmak, S., Tuncali, T., Koz, O., Ozhamamci, E., Yasun, O., and Artuz, F. (2015). Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 32(6), pp.470-474. https://doi.org/10.5114/pdia.2015.56102 MLA Kilic, Arzu et al. "Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 32, no. 6, 2015, pp. 470-474. doi:10.5114/pdia.2015.56102. Vancouver Kilic A, Çakmak S, Tuncali T, Koz O, Ozhamamci E, Yasun O et al. Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2015;32(6):470-474. doi:10.5114/pdia.2015.56102.
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome
AbstractSeckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six-yr-old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched unrelated donor. Currently the patient is on D+771, in good health conditions and with no further complications. In conclusion, this case indicates that bone marrow transplantation is an acceptable therapeutic option for Seckel syndrome complicated by hematological alterations.
[Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].
AbstractOBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome. METHODS: Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father. CONCLUSION: The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.
International Journal of Health Sciences and Pharmacy · 2017 · 1 citations · open access
Seckel Syndrome in a 9 Year Old Child
AbstractSeckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usually such patients have poor psychomotor development.
Zenodo (CERN European Organization for Nuclear Research) · 2017 · 1 citations · open access
Seckel Syndrome In A 9 Year Old Child
AbstractSeckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usually such patients have poor psychomotor development.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
