DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Baraitser-Winter syndrome 1 — 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 moduleBaraitser-Winter syndrome 1 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 baraitser-winter syndrome 1 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
actin beta (ACTB) — ACTB 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8OI8 · 2.28 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
Baraitser-Winter syndrome 1 is a rare condition. One report describes an Arab child with unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears, short neck, cardiac defect, a previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis and FISH study showed a normal 46, XX karyotype. At that time, only 19 patients from different ethnic families had been reported.
A second report describes a 3.5 year old Egyptian boy with bilateral colobomas of the iris and choroid, retinal hypoplasia (not previously reported in this syndrome), bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the hand joints, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis. His parents were non-consanguineous.
A 2015 study on lamotrigine augmentation for seasonal affective disorder (winter depression) included 30 patients and found statistically significant improvement in HAM-D scores at 4 and 8 weeks compared to baseline, though no significant difference was seen at 2 weeks. This study concerns a different condition and does not address Baraitser-Winter syndrome 1.
No drug treatment for Baraitser-Winter syndrome 1 is described in these abstracts. What is missing is any clinical trial, any molecular characterisation of the syndrome in these patients, and any systematic effort to identify or test a therapeutic agent. The natural history and genetic basis remain largely unaddressed in these reports.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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 Psychological Medicine · 2015 · 3 citations · open access
Seasonal Affective Disorder (SAD): Role of Lamotrigine Augmentation to Anti-Depressant Medication in Winter Depression
AbstractBACKGROUND: Many therapeutic options have been evaluated and tried for seasonal affective disorder (SAD) including bright light therapy (BLT), anti-depressants, beta-blockers and psychotherapy, but the data supporting use of mood-stabilizing agents is just handful in spite of this condition being understood most frequently to be associated with bipolar affective disorder II (BPAD II). So we planned to study role of Lamotrigine (Mood stabilizing agent) in SAD. MATERIALS AND METHODS: 30 patients of SAD who were prescribed lamotrigine in addition to antidepressant medications for a minimum of 8 weeks and were assessed for severity using HAM-D were selected retrospectively from the hospital records for this study. HAM-D scores at 2, 4 and 8 weeks were compared to baseline scores. STATISTICS ANALYSIS: Single tailed t-test was used to study the difference of means to assess the therapeutic response and pre/post analysis of change. Statistical significance was set at P < 0.05. RESULTS: Though no significant difference was seen in HAM-D Scores at 2 weeks of treatment compared to baseline, but results were statistically significant at 4 and 8 weeks of treatment with lamotrigine augmentation of antidepressant medications. CONCLUSION: We conclude that lamotrigine augmentation was found to be effective treatment strategy for managing winter depression phase of Seasonal Affective Disorder.
Egyptian Journal of Medical Human Genetics · 2015 · 1 citations · open access
Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum
AbstractWe report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.
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.
