DeCure for Maternal uniparental disomy of chromosome 20
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for maternal uniparental disomy of chromosome 20 — 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 moduleMaternal uniparental disomy of chromosome 20 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 maternal uniparental disomy of chromosome 20 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
estrogen receptor 1 (ESR1) — ESR1 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 estdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2OCF · 2.95 Å · ligand ESTRADIOL (EST). Experimental structure, not a prediction.
What the evidence adds up to
Maternal uniparental disomy of chromosome 20 is one of the rarer UPDs. A 2005 review of whole-chromosome maternal UPD other than chromosome 15 counted 197 reported cases in total, but these covered all chromosomes except 15 and included 124 cases of X heterodisomy and 59 of X isodisomy; the number specific to chromosome 20 was not given separately, and no phenotype or treatment data for UPD 20 were provided in that paper. The same review noted that the clinical consequences of UPD vary by chromosome and that for many chromosomes the phenotype is still poorly defined.
No paper in this set describes a drug or any intervention for maternal UPD 20. The abstracts cover other UPDs: a 1996 case of maternal UPD 16 with intrauterine growth retardation and minor congenital heart disease; a 1999 case of maternal UPD 22 with severe intrauterine growth retardation attributed to a trisomic placenta rather than the UPD itself; and a 2011 case of segmental UPD 18 in a child who was healthy at 20 months. None of these reports test a treatment. A 2008 study of chromosome abnormalities in 11,148 newborns found associations with maternal age, low oestriol, certain drugs, and ABO/Rh blood type, but it did not address UPD 20 or any therapy.
What is missing for maternal UPD 20 is any systematic collection of cases with detailed phenotyping, any natural history study, and any trial design. Without a defined patient cohort and without understanding which symptoms, if any, are consistently caused by the UPD itself rather than by an underlying trisomic placenta or other mechanism, no rational intervention can be proposed. Funding for a registry and for basic research into imprinted genes on chromosome 20 would be needed before any clinical study could begin.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2005 · 155 citations
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
AbstractUniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137-143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68 cases with whole chromosome paternal UPD other than 15 (13 X heterdisomy, 53 X isodisomy, and 2 cases without information of the mode of UPD) have been reported. In this review we discuss briefly the problems associated with UPD and provide a comprehensive clinical summary with a bibliography for each UPD other than 15 as a guide for genetic counseling.
CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE
AbstractUniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, the only such infant identified at King's College Hospital. The infant had intrauterine growth retardation and minor congenital heart disease.
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta
AbstractWe report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine growth retardation. Karyotyping of a placental tissue revealed non-mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using DNA extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the phenotype. Thus, growth retardation in this patient was probably caused by dysfunction of the trisomic placenta.
Chromosome abnormalities in newborn children. Aetiological aspects
AbstractChromosome examination of 11,148 consecutively liveborn children showed 93 with a chromosome abnormality and 192 with a chromosome variant. There was no significant association between chromosome abnormalities and parental, social and occupational status, except that parents of boys with enlarged Y had a lower social status. Maternal age was higher for children with aneuploid or unbalanced chromosome abnormalities. Low oestriol concentration was more frequent in mothers of children with chromosome abnormalities. Sterility problems were found to a significantly higher degree in parents of children with balanced translocations, and there was a higher frequency of abortions in mothers of boys with enlarged Y chromosome. Oestrogen-gestagen drugs were taken more frequently by mothers of children with aneuploid chromosome abnormalities. Psychotropic drugs, ferro preparations and sulfonamides were taken with a significantly higher frequency among mothers of children with chromosome abnormalities. The frequency of AB Rhesus positive mothers was significantly higher for children with chromosome abnormalities, especially for those with balanced translocations and de novo translocations, than for children with normal karyotypes, whereas mothers of children with sex chromosome abnormalities had a higher frequency of B Rhesus negative blood type. There was also an association between the AB Rhesus negative type and chromosome abnormalities in children.
Zurich Open Repository and Archive (University of Zurich) · 2011 · 0 citations · open access
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
AbstractIn this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.
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.
