DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Baller-Gerold 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 moduleBaller-Gerold 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 baller-gerold 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
RecQ like helicase 4 (RECQL4) — RECQL4 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 5LST · 2.75 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Baller-Gerold syndrome is defined by the combination of craniosynostosis and radial aplasia. A 1980 report described a 6½-year-old black male with bilateral coronal and lambdoidal synostoses, bilateral radial aplasia, vertebral anomalies, and genito-urinary malformations; his parents and siblings were unaffected, and no consanguinity was noted. That paper reviewed four previously reported patients and discussed possible autosomal recessive inheritance. A 1990 report described a boy with only craniosynostosis and radial aplasia, noting that the 12 published cases fell into two groups: those with no additional abnormalities and those with a broad range of extra features. Another 1990 paper reported an 11th case with craniosynostosis, left radius aplasia, right radius hypoplasia, and other anomalies, and cited probable parental consanguinity as evidence for autosomal recessive inheritance.
A 1998 case described a 37-week-old, small-for-gestational-age white baby girl with craniosynostosis, partial absence of the corpus callosum, absent radius, and syndactyly. She died at two months of age from overwhelming sepsis attributed to an underlying humoral immunodeficiency. The authors noted that unexpected sudden death had been reported in Baller-Gerold syndrome but that immunodeficiency had not been previously documented, and they recommended basic immunologic and hematologic workup as standard care. A 2008 report reiterated that craniosynostosis and radial aplasia are the striking features but that many differential diagnoses exist, and questioned whether Baller-Gerold syndrome is a distinct entity, suggesting genotypic heterogeneity might explain the phenotypic variability.
No drug treatment is mentioned in any of these abstracts. What is missing is any systematic natural history study, any molecular genetic characterisation that could distinguish Baller-Gerold syndrome from overlapping conditions, any prospective data on the frequency and types of immunodeficiency, and any standardised clinical management protocol beyond the suggestion of immunologic workup. The syndrome remains defined by a handful of case reports, with no funding or trial design aimed at understanding its pathogenesis or improving outcomes.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractA new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.
Journal of Medical Genetics · 1990 · 26 citations · open access
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).
AbstractThe cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.
American Journal of Medical Genetics · 1990 · 20 citations
Baller‐Gerold syndrome: An 11th case of craniosynostosis and radial aplasia
AbstractWe report on a patient with craniosynostosis, left radius aplasia, right radius hypoplasia, and other congenital anomalies. This is the 11th reported case of the Baller-Gerold syndrome. Autosomal recessive inheritance of this syndrome is suggested by evidence of probable parental consanguinity.
Immunodeficiency in a Patient With Baller-Gerald Syndrome
AbstractWe describe the case of a 37-week-old, small-for-gestational-age, white baby girl born with Baller-Gerold syndrome (BGS), with craniosynostosis and partial absence of the corpus callosum, absent radius, and syndactyly. She died at 2 months of age because of overwhelming sepsis that appeared to be due to an underlying humoral immunodeficiency. Unexpected sudden death has been reported in patients with BGS, but there has been no previous documentation of immunodeficiency. We suggest that a basic immunologic and hematologic workup should be part of the standard of care of all patients affected with BGS or related syndromes.
Indian Journal of Plastic Surgery · 2008 · 0 citations · open access
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
AbstractABSTRACT the baller-gerold syndrome is a rare syndrome with very few cases published in literature. craniosynostosis and radial aplasia are striking features, easy to diagnose. however, there are many differential diagnoses. often, the question raised is whether the baller-gerald syndrome is a distinct entity. we report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the baller-gerold syndrome. genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.
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.
