DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for pseudo-TORCH syndrome — 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 modulePseudo-TORCH syndrome 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 pseudo-torch syndrome 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
ubiquitin specific peptidase 18 (USP18) — USP18 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 9ZFO · 3.05 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The 2022 case report describes pseudo-TORCH syndrome 2, a distinct genetic disorder that clinically and radiologically mimics congenital TORCH infections. The prevalence is given as 1 in 1,000,000 cases worldwide. The report identifies a novel nonsense mutation in the ubiquitin-specific peptidase 18 (USP18) gene in a family from India. Both parents were heterozygous asymptomatic carriers, while all children inherited a homozygous pathogenic form of USP18, which is an important negative regulator of type I interferon signal transduction. The case involved a 23-year-old pregnant woman with a bad obstetric history including intrauterine and neonatal mortality. Advanced clinical exome sequencing of the parents and the fetus revealed the heterozygous carrier status in parents and the homozygous USP18 mutation in the progeny.
The 2019 and 2024 abstracts concern infectious TORCH syndrome, not the genetic pseudo-TORCH syndrome. The 2019 study of 90 pregnant women with bad obstetric history in Iraq found total seropositivity for Toxoplasma gondii in 19 of 90 (21.1%), Rubella virus in 17 of 90 (18.9%), Cytomegalovirus in 16 of 90 (17.8%), and Herpes simplex virus in 16 of 90 (17.8%). IgM and IgG seropositivity for these four pathogens ranged from 7.8% to 13.3%. The 2024 abstract states that TORCH infections spread rapidly through maternal blood to the fetus, that the fetal immune system is not strong enough to fight the infection, and that the infection may cause vital organs not to develop properly, with risks including jaundice, hearing problems, stillbirth, and miscarriage.
No drug treatment is mentioned in any of these abstracts for either pseudo-TORCH syndrome or infectious TORCH syndrome. The 2022 report emphasises carrier screening, prenatal diagnosis, and genetic counselling for couples with bad obstetric history to detect rare genetic disorders with poor prognosis. The 2019 paper concludes that serological testing for TORCH infection during current pregnancy must be considered when managing bad obstetric history cases.
What is still missing is any clinical trial data or drug intervention for pseudo-TORCH syndrome 2, which remains a diagnosis made by next-generation sequencing with no described therapy. The genetic mechanism involving USP18 and type I interferon signalling suggests a potential target, but no preclinical or clinical work is reported. Patient stratification by specific USP18 mutation and funding for basic research into the interferon pathway in this ultra-rare disease are absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Journal of The University of Duhok · 2019 · 2 citations · open access
Serodiagnosis of Torch Infections among Aborted Women in Duhok City/ Kurdistan Region /iraq
AbstractTORCH syndrome is a cluster of symptoms caused by congenital infection with (Toxoplasma gondii, Rubella virus, Cytomegalovirus, Herpes simplex virus, and other pathogens such as Hepatitis B virus antigen and syphilis) during the gestation period of pregnancy. The infection might lead to fetal abnormalities or abortion. Objective: The current study was done to detect TORCH pathogens, hepatitis B virus, and syphilis antigens in women with a previous history of recurrent abortion using serological test in Duhok city. Materials and method: A direct rapid test was used as a serological method for the detection of IgM and IgG antibodies against TORCH pathogens as well as the seropositivity of HBV antigen and syphilis. A total of 90 pregnant women with bad obstetric history were included in the current study throughout April-August 2017 in Duhok City/ Kurdistan Region/Iraq. Results: The total seropositivity of anti-pathogens (Toxoplasma gondii, Rubella virus, Cytomegalovirus, and Herpes virus) were 19/90(21.1%), 17/90(18.9), 16/90(17.8), 16/90(17.8%) and for HBs Ag and syphilis 3/90 (3.3%) and syphilis 1/90(1.1%) respectively. The IgM and IgG seropositivity to Toxoplasma gondii, Rubella virus, Cytomegalovirus, and Herpes viruses were (13.3% and 7.8%), (10.0% and 8.9%), (10.0% and 7.8%), and (10.0% and 7.8%) respectively. Seroprevalence of antipathogens IgG and IgM antibodies associated with socioeconomic and demographic characteristics were indicated in the results section. Conclusion: A previous history of pregnancy wastage and the serological test for TORCH infection in addition to HBs Ag and syphilis during current pregnancy must be considered while managing BOH cases as to reduce the adverse fetal outcomes, the early diagnosis of TORCH using serological methods is highly significant.
Journal of Reproduction & Infertility · 2022 · 1 citations · open access
A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2
AbstractBackground: Pseudo-TORCH syndrome (PTS) is a group of autosomal recessive disorders that clinically and radiologically mimic TORCH congenital infections. The prevalence of pseudo-TORCH syndrome 2 is 1 in 1,000,000 cases worldwide. This novel disorder is extremely rare, and is generally detected by prenatal diagnosis through next generation sequencing (NGS) during pregnancy. In this study, a familial case of pseudo-TORCH syndrome 2 with novel non-sense mutation in the ubiquitin-specific peptidase 18 (USP 18) gene in the parents was reported, who are heterozygous asymptomatic carriers; however, all children have inherited a homozygous pathogenic form of USP18, which is an important negative regulator of type I interferon (IFN) signal transduction. To the best of our knowledge, this is the first case of a novel mutation of USP18 seen in a family with pseudo-TORCH syndrome 2 (PTS 2) from India. Case Presentation: A 23-year-old pregnant woman with bad obstetric history, including intrauterine and neonatal mortality was referred to the Institute of Genetics in the year 2021 for clinical and genetic evaluation. Advanced clinical exome sequencing of the parents and the fetus revealed heterozygous carrier status in parents and homozygous mutation in USP 18 gene in the progeny leading to pseudo-TORCH-2 syndrome. Conclusion: The present case highlights the significance of carrier screening, prenatal diagnosis, and genetic counseling in couples with bad obstetric history for the detection of rare genetic disorders with poor prognosis.
International Journal of Science and Research (IJSR) · 2024 · 0 citations · open access
Pregnancy with Torch Complex
AbstractA TORCH Complex or TORCH infection, also known as TORCH syndrome, is a group of infectious diseases that can affect the developing fetus or newborn.It spreads rapidly through maternal blood to the fetus.At this level, the immune system of fetus is not strong enough to fight the infection so he/she develops the infection as well.Moreover, if the infection or disease remains in the fetus blood might cause not develop vital organs properly.There are the risks of numerous health problems as well.For instance, jaundice or hearing problems.TORCH diseases in pregnancy increase the risk of stillbirth and miscarriage.
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.
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