DeCure for Microcephaly 26, primary, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for microcephaly 26, primary, autosomal dominant — 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 moduleMicrocephaly 26, primary, autosomal dominant 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 microcephaly 26, primary, autosomal dominant 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
lamin B1 (LMNB1) — LMNB1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7DTG · 3.6 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Thirteen patients from three unrelated families had microcephaly without neurological or dysmorphic findings, with male-to-male transmission confirming autosomal dominant inheritance. A separate report described a family with microcephaly across three generations, also consistent with dominant inheritance, where affected individuals had short stature, ocular anomalies, and simple protruding ears, but intellectual function was normal or borderline. A larger family of thirteen affected members in three generations showed isolated microcephaly without other abnormalities, but with incomplete penetrance — a non-manifesting carrier produced a skipped generation — and considerable variation in expression.
No drug or treatment was tested in any of these studies. The 2017 paper on KIF14 mutations describes primary and syndromic microcephaly as a neurodevelopmental disorder with reduced cerebral cortex size and mild to moderate intellectual disability, but it does not report any therapeutic intervention. The condition is genetically heterogeneous, with most implicated genes encoding centrosome-related cell division proteins.
The evidence is purely descriptive genetics. There are no clinical trials, no survival data, no response rates, and no drug repurposing experiments for microcephaly 26, primary, autosomal dominant. What is missing is any preclinical model of the specific KIF14 mutation, funding for drug screening, and a trial design that could measure meaningful outcomes in a disorder defined by head circumference and cognitive function.
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 · 1983 · 26 citations
Silent microcephaly: A distinct autosomal dominant trait
AbstractThirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male-to-male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogeneity.
Dominant inheritance of microcephaly with short stature
AbstractA family is reported in which microcephaly has been observed in at least three generations. The pedigree is most consistent with autosomal dominant inheritance. In addition to microcephaly, affected individuals exhibit significantly short stature, ocular anomalies and simple, protruding ears. Intellectual function is in the normal or borderline range.
AbstractA large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped generation'. There is considerable variation in the phenotypic expression of autosomal dominant microcephaly. This isolated (uncomplicated) type of microcephaly should be distinguished from other well defined, dominantly inherited forms of microcephaly.
Mutations in KIF14, Encoding Kinesin-Like Protein KIF14, Cause Primary and Syndromic Microcephaly
AbstractPrimary microcephaly (small head) is a neurodevelopmental disorder characterized by a reduction in the size of the cerebral cortex accompanied with mild to moderate intellectual disability. This condition is observed either as an isolated form referred to as autosomal recessive primary microcephaly (MCPH) or in combination with additional features like growth retardation, renal and cranio-facial abnormalities or others subsumed under syndromic microcephaly. Both MCPH and syndromic microcephaly are heterogeneous disorders caused by mutations of many different genes. The majority of these genes encode proteins implicated in cell division and many of them have been localized at the centrosome.
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.
