DeCure for Microcephaly 1, primary, autosomal recessive
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for microcephaly 1, primary, autosomal recessive — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMicrocephaly 1, primary, autosomal recessive maps to a 4-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 1, primary, autosomal recessive 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
microcephalin 1 (MCPH1) — MCPH1 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 3SHT · 1.95 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Thirteen patients from three unrelated families were found to have microcephaly without any neurological or dysmorphic manifestations, with autosomal dominant inheritance concluded from direct transmission in all three families including one male-to-male instance. A separate report of a large family with 13 affected members in three generations confirmed autosomal dominant isolated microcephaly with incomplete penetrance, including a skipped generation due to a non-manifesting heterozygote, and noted considerable variation in phenotypic expression. These reports describe a distinct uncomplicated form of microcephaly that should be distinguished from other dominantly inherited forms.
Autosomal recessive primary microcephaly (MCPH) is a typical neurodevelopmental disorder characterised by decreased brain size, mental retardation, and abnormal behaviours. At least 25 genes have been discovered to cause MCPH when mutated, named MCPH1-25 according to order of discovery, and these MCPH proteins play important roles in regulating brain developmental signalling pathways. Mutations in KIF14, encoding kinesin-like protein KIF14, cause both primary and syndromic microcephaly, with the majority of implicated genes encoding proteins involved in cell division and localised at the centrosome.
No drug treatments are mentioned in any of these abstracts. No clinical trials, no interventions, no survival or response rate data are reported. The literature is limited to genetic characterisation and protein function reviews.
What remains missing is any drug repurposing strategy, any preclinical or clinical testing of compounds, any patient stratification beyond genetic diagnosis, and any funding directed toward therapeutic development for either autosomal dominant or autosomal recessive microcephaly.
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.
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.
[Update on autosomal recessive primary microcephaly (MCPH)-associated proteins].
AbstractBrain development diseases refer to a group of diseases that affect the development of the brain or the central nervous system. Autosomal recessive primary microcephaly (MCPH) is a typical neurodevelopmental disorder characterized by a decreased brain size, mental retardation and abnormal behaviors. To date, at least 25 genes have been discovered to cause MCPH when mutated. These genes were named MCPH1-25 according to the discovery order. MCPH proteins play important roles in regulating brain developmental signaling pathways. Here, we provide a timely review of the expression patterns, cellular localization, molecular functions, phenotypes, as well as animal models of these 25 MCPH proteins that will expedite our understanding of the pathogenesis of brain disorders at both molecular and cellular levels.
Genetic microcephaly in a pair of monozygous twins
AbstractA pair of monozygotic female twins with true primary microcephaly is described. The autosomal-recessive nature of the disease is supported by the following: the twins are concordant for the disease; the parents, themselves normal, are related; the reduced skull dimensions were noted at birth; neurologic problems are absent; the karyotype is normal; the gestation and delivery were normal, without any history of influences capable of inducing microcephaly. A detailed dermatoglyphic study is given.
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.
