Rare & Orphan Lab · DeCure for X

DeCure for Tuberous sclerosis 2

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for tuberous sclerosis 2 — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module6 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080325$DeCureRare

The disease map

Disease moduleTuberous sclerosis 2 maps to a 6-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 tuberous sclerosis 2 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

von Hippel-Lindau tumor suppressor (VHL)VHL 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 2s,4rdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 8QVU · 2.24 Å · ligand (2S,4R)-1-[(2S)-2-[4-[4-[(3S)-4-[4-[5-[(4S)-2-azanyl-3-cyano-4-methyl-6,7-dihydro-5H-1-benzothiophen-4-yl]-1,2,4-oxadiazol-3-yl]pyrimidin-2-yl]-3-methyl-1,4-diazepan-1-yl]butoxy]-1,2,3-triazol-1-yl]-3-methyl-butanoyl]-N-[(1R)-1-[4-(4-methyl-1,3-thiazol-5-yl)phenyl]-2-oxidanyl-ethyl]-4-oxidanyl-pyrrolidine-2-carboxamide (WYL). Experimental structure, not a prediction.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Annals of Medicine and Surgery · 2022 · 5 citations · open access

Tuberous sclerosis in a 16 years old female: A case report

AbstractINTRODUCTION: Tuberous sclerosis complex (TSC) is an uncommon multisystem disorder that can affect the lungs, skin, kidneys, and brain. The study highlights the importance of genetic and clinical diagnostic criteria in identifying this rare condition and the role of surveillance in preventing complications. CASE PRESENTATION: Herein, we report a case of 16 years old female presenting with right flank pain, hematuria, hypopigmented macule over the back, ash leaf spots over the right upper and lower limb, and a palpable mass over the right lumbar region. Laboratory tests showed low hemoglobin with plenty of red blood cells in urine. She was admitted for symptomatic management of pain and blood transfusion was done to manage anemia. After a diagnostic workup for tuberous sclerosis, she was diagnosed with the condition and is under regular follow-up. CLINICAL DISCUSSION: Tuberous sclerosis complex is one of the neurocutaneous syndromes, diagnosed based on the genetic or clinical diagnostic criteria as per the second International Tuberous Sclerosis Complex Consensus Conference 2012, which have been updated in 2021 with no changes in genetic diagnostic criteria and slight changes in clinical diagnostic criteria. After diagnosis, along with the management, surveillance is also crucial. CONCLUSION: Tuberous sclerosis runs a progressive course and can lead to various complications. Thus, early diagnosis with the help of genetic and clinical diagnostic criteria is important along with regular surveillance of different body systems to prevent debilitating complications.

https://doi.org/10.1016/j.amsu.2022.103331
Actas Dermo-Sifiliográficas · 2009 · 3 citations · open access

Clinical Findings in 67 Patients With Tuberous Sclerosis

AbstractTuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. To report the clinical findings in a series of 67 patients with tuberous sclerosis. This was a descriptive and observational retrospective study of patients with tuberous sclerosis referred to our dermatology clinics between January 1994 and March 2007. All patients presented neurological or dermatological disorders. Other disorders, in descending frequency, were psychiatric (55.5%), renal (32.8%), cardiac (22.4%), skeletal and pulmonary (13.4%), and ophthalmological (11.9%). We report the clinical findings in a series of patients with tuberous sclerosis. According to our literature search, this is the first such study in the Spanish population. Overall, our findings support those already published. La esclerosis tuberosa (ET) es un síndrome neurocutáneo infrecuente caracterizado por la aparición de hamartomas en múltiples órganos. Su diagnóstico se basa en criterios clínicos. Describir los hallazgos clínicos en una serie de 67 pacientes afectos de ET. Llevamos a cabo un estudio retrospectivo, descriptivo y observacional de los pacientes con ET remitidos a nuestras consultas de Dermatología entre enero de 1994 y marzo de 2007. El 100% de los pacientes presentaron alteraciones neurológicas o dermatológicas. El resto fueron, por orden: psiquiátricas (55,5%), renales (32,8%), cardíacas (22,4%), esqueléticas y pulmonares (13,4%) y oftalmológicas (11,9%). Describimos los hallazgos clínicos en una serie de pacientes afectos de ET. Se trata, según la literatura revisada, del primer estudio de este tipo en la población española. Globalmente, nuestros datos apoyan lo hasta ahora publicado.

https://doi.org/10.1016/s1578-2190(09)70127-1

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.