DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Clark-Baraitser 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 moduleClark-Baraitser 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 clark-baraitser 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
thyroid hormone receptor interactor 12 (TRIP12) — TRIP12 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 sy8drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9GKN · 3.4 Å · ligand 5-azanylpentan-2-one (SY8). Experimental structure, not a prediction.
What the evidence adds up to
Clark-Baraitser syndrome is a rare autosomal dominant genetic disorder with fewer than 50 cases reported in the literature as of 2020. It is characterised by multiple congenital anomalies, distinctive facial features including a high arched palate, ocular coloboma, brain abnormalities, hearing defects, intellectual disability, and kidney abnormalities. A 2020 case report described a male infant with a de novo mutation who had a uterus and vagina in the pelvis, a finding not previously reported. A 2010 report of an Arab child added a previously undescribed brain anomaly, cardiac defect, seizures, hypotonia, and developmental delay to the known spectrum. A 2015 paper on Nicolaides–Baraitser syndrome, a related condition, described short stature, mental retardation, absent or limited speech, seizures, sparse hair, and interphalangeal swelling in a 5-year-old girl.
Two cases of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) patients presenting with malignancies — acute lymphocytic leukemia and cutaneous lymphoma — had been published before 2016. In 2016, a 21-year-old female with molecularly confirmed Fryns-Aftimos syndrome, part of the BWCFF spectrum, developed acute myeloid leukemia. The authors noted that this finding may indicate that actinopathies could be cancer-predisposing syndromes, but cautioned that small numbers and publication bias should be taken into account.
A 2024 case report described the anaesthetic management of a 10-year-old child with Clark-Baraitser syndrome and bilateral undescended testis posted for orchiopexy. The report highlighted that the high arched palate can complicate airway management, and that perioperative management of antiepileptic drug therapy is important for seizure control in these patients. The authors noted that anaesthetising an intellectually disabled patient is challenging due to lack of communication and understanding, which makes perioperative evaluation difficult.
What is still missing is any systematic study of cancer risk in a larger cohort, a standardised anaesthesia protocol for these patients, and any trial design that could address the clinical heterogeneity of the syndrome. Patient stratification by specific ACTB or ACTG1 mutation type has not been attempted in a prospective study.
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 · 2016 · 20 citations
Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome
Egyptian Journal of Medical Human Genetics · 2010 · 5 citations · open access
Baraitser–Winter syndrome: An additional Arab patient
AbstractAn Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype. To date, Baraitser–Winter syndrome has only been reported in 19 patients of different ethnic families. The present case adds a new finding to the spectrum of malformations published before.
Indian Journal of Paediatric Dermatology · 2015 · 1 citations · open access
Nicolaides–Baraitser syndrome
AbstractNicolaides–Baraitser is a very rare clinical condition characterized by short stature, mental retardation, absent or limited speech, seizures, sparse hair, peculiar facial appearance, short metacarpals, and interphalangeal swelling. In this paper, we report a case of a 5-year-old female child belonging to the ethnic Kashmiri population with clinical features suggestive of Nicolaides–Baraitser syndrome. Clinical rarity of this condition prompted this communication.
Indian Journal of Clinical Anaesthesia · 2024 · 0 citations · open access
Anesthetic management in a rare case of clark-baraitser syndrome: Insights and challenges
AbstractClark Baraitser syndrome is a rare autosomal dominant genetic disorder characterized by multiple congenital anomalies and distinctive facial features. These features, including a high arched palate, can complicate airway management. Anaesthetizing an intellectually disabled patient is a challenging task due to lack of communication and understanding, which makes perioperative evaluation difficult. The perioperative management of antiepileptic drug therapy is important for seizure control in these patients. This case report describes the anaesthetic management of 10-year-old child with Clark Baraitser syndrome with bilateral undescended testis posted for orchiopexy.
Baraitser-Winter syndrome in a male patient with a uterus
AbstractIntroduction Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disorder with fewer than 50 cases reported in the literature. Features include facial dysmorphism, ocular coloboma, brain abnormalities, hearing defects, intellectual disability and kidney abnormalities. We describe a case of a male infant with de novo mutation for BRWS with a new and unexpected finding of a uterus and vagina in the pelvis. This is the first reported case of a …
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.
