DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Meckel syndrome, type 6 — 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 6 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 6 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.
What the evidence adds up to
Meckel syndrome is a rare lethal ciliopathic genetic disorder inherited in an autosomal recessive pattern. Its classic diagnosis rests on three major signs: renal cystic dysplasia, central nervous system malformations, and polydactyly, often accompanied by hepatic developmental defects and pulmonary hypoplasia due to oligohydramnios. A 2016 case report describes a 34-year-old non-diabetic, non-hypertensive woman, gravida III para I, whose ultrasound scan at 19 weeks and 5 days showed a single viable fetus with enlarged highly echogenic kidneys. No drug treatment is mentioned in any of the abstracts.
A 1974 paper discusses the diagnostic problem of cases showing only one of the three major signs. It concludes that such cases could be either the real syndrome with unusually few manifestations or phenocopies or a Meckel‑like syndrome without an etiological relation to the classical form. The authors note that follow‑up of families and the presence or absence of typical Meckel syndrome among siblings may help decide between these possibilities. No survival data, response rates, or sample sizes are given.
A 2014 paper describes a family in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. It states that it is uncertain whether these malformations represent partial expression of the disease or are coincidental, but notes that partial expression has been described in heterozygotes for other autosomal recessive diseases. Until the responsible gene is cloned and sequenced, such relatives may be offered genetic counselling and prenatal diagnosis. No drug is mentioned.
What is still missing is any clinical trial testing a drug for Meckel syndrome, any funding for such a trial, and any molecular stratification of patients that might guide a repurposing approach. The abstracts provide no survival statistics, no response rates, and no evidence of any pharmacological intervention.
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.
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.
