DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Meckel syndrome, type 5 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMeckel syndrome, type 5 maps to a 2-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 meckel syndrome, type 5 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
FTO alpha-ketoglutarate dependent dioxygenase (FTO) — FTO 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 3-hydroxypyridin-2-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4IE5 · 1.95 Å · ligand N-[(3-hydroxypyridin-2-yl)carbonyl]glycine (MD6). Experimental structure, not a prediction.
What the evidence adds up to
Meckel syndrome is an autosomal recessive disorder. Its main features are microcephaly, occipital encephalocoele with associated midline facial defects, renal and limb anomalies. A 2016 case report describes a 34-year-old woman, gravida III, para I, who came for a first ultrasound scan at 19 weeks and 5 days of gestation; the scan showed a single viable fetus with enlarged highly echogenic kidneys. The report characterises Meckel syndrome as a rare lethal ciliopathic genetic disorder with renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
A 1997 study investigated the nerve growth factor receptor p75 (NGFR) gene as a candidate for Meckel syndrome because of its role in embryonic development, its chromosomal location adjacent to the MKS locus, and the fact that knock-out mice show Meckel-syndrome-resembling findings. Sequence analysis of the coding region revealed one polymorphism but no potential disease mutation. Physical mapping showed that the NGFR gene lies outside the MKS locus, excluding it as the causative gene.
A 1980 paper notes that diagnosis had previously been made ultrasonically by repeated demonstration of small head size; in that instance a renal anomaly was demonstrated and used to confirm the diagnosis. A 2014 paper describes a family in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. The authors state it is uncertain whether these malformations represent partial expression or are coincidental, but note that partial expression has been described in heterozygotes for other autosomal recessive diseases. Until the gene responsible is cloned and sequenced, such relatives may be offered genetic counselling and prenatal diagnosis.
What is still missing is the identification of the specific gene or genes responsible for Meckel syndrome type 5, which would require sequencing studies in affected families. No drug or treatment is mentioned in any of these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 1974 · 14 citations
A Meckel‐like syndrome?
AbstractThe problem of the major clinical pathological signs required for the diagnosis of the Meckel syndrome is presented. A case showing only one of the three major signs of the syndrome is described. It is concluded that at present some cases showing only one major sign and a combination of minor signs could be interpreted in two alternative ways: 1) That they are cases of the real syndrome with unusually few manifestations. 2) That they are phenocopies or are examples of a Meckel‐like syndrome without an etiological relation to the classical syndrome. Follow‐up of the families and the presence or absence of typical cases of Meckel syndrome among siblings may help in deciding between the above possibilities.
Australian and New Zealand Journal of Obstetrics and Gynaecology · 1980 · 11 citations
Early Diagnosis of Meckel's Syndrome
AbstractMeckel's syndrome is a disorder of polygenic origin inherited as an autosomal recessive. The main features are microcephaly, occipital encephalocoele with associated midline facial defects, renal and limb anomalies. The diagnosis has previously been made ultrasonically by the repeated demonstration of small head size. In this instance a renal anomaly was demonstrated and use to confirm the diagnosis.
Exclusion of the P75 neurotrophin receptor gene as a candidate gene for Meckel syndrome
AbstractNerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of the coding region of the gene revealed one polymorphism but no potential disease mutation. Physical mapping of the critical chromosomal region finally showed that the NGFR gene lies outside the MKS locus.
International Journal of Biomedical Materials Research · 2016 · 0 citations · open access
Diagnosis of Meckel Gruber Syndrome Ultrasound Scan
AbstractMeckel syndrome is a rare lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. 34 years old, neither diabetic nor hypertensive, she is gravida III, para I, came for first ultrasound scan with amenorrhea for four months. The ultrasound scan shows single viable fetus, gestational age was 19 weeks + 5 days, with enlarged highly echogenic kidneys.
Вестник Кузбасского государственного технического университета · 2014 · 0 citations
Специфика анализа виброакустических волн, генерируемых при работе щековых дробилок типа СМД
AbstractMeckel syndrome is an inherited autosomal recessive disease. A family is described in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. It is uncertain whether these malformations represent partial expression of the disease or are coincidental. However, partial expression has been described in heterozygotes for other autosomal recessive diseases. Until the gene responsible for this lethal syndrome is cloned and sequenced, such relatives of the proband may be offered genetic counselling and prenatal diagnosis.
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.
