DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Birk-Barel 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 moduleBirk-Barel 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 birk-barel 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Frontiers in Medicine · 2023 · 0 citations · open access
A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report
AbstractBackground: Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder. And the main clinical manifestations include congenital hypotonic, craniofacial malformation, developmental delay, and intellectual disability. Generally, such patients could be diagnosed beyond the infant period. Moreover, the delayed diagnosis might lead to a poor prognosis of rehabilitation therapy. However, neonatal obstructive sleep apnea (OSA) was seldom reported in Birk-Barel syndrome. Here, we reported a severe neonatal OSA case induced by Birk-Barel syndrome, resulting in an early diagnosis with improved outcomes by integrative management. Case presentation: The proband was a neonate presenting with recurrent severe OSA, with craniofacial deformity and congenital muscle hypotonia. Bronchoscopy examinations indicated a negative finding of pharyngeal and bronchus stenosis, while laryngomalacia had been observed. Whole exon sequencing demonstrated a c. 710C>A heterozygous variant resulting in a change of amino acid (p.A237D). This variant resulted in a change of amino acid sequence, affected protein features and changed splice site leading to a structural deformation in KCNK9 protein. This p.A237D variant also affected the crystal structure on the p.G129 site. Additionally, we used the mSCM tool to measure the free energy changes between wild-type and mutant protein, which indicated highly destabilizing (-2.622 kcal/mol). Conclusion: This case report expands the understanding of Birk-Barel syndrome and indicates that OSA could serve as the on-set manifestation of Birk-Barel syndrome. This case emphasized genetic variants which were associated with severe neonatal OSA. Adequate WES assessment promotes early intervention and improves the prognosis of neurological disorders in young children.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
(CR 37) Birk - Barel Syndrome A Rare Imprinting Disorder
AbstractIntroduction: Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare genetic disorder characterized by hypotonia, intellectual disability, significant feeding difficulties and dysmorphic facial features. To date, less than 50 cases have been reported worldwide. A heterozygous mutation in the maternally inherited KCNK9 allele results in disease but paternally inherited KCNK9 allele does not cause disease. Case Report/Description: Our patient is a 2 year 4-month-old girl, born premature at 35 weeks with a birth weight of 2.25kg. She was noticed to be floppy at birth. The following dysmorphic features were observed: micrognathia, hypertelorism, submucosal central cleft palate, wide spaced nipple and webbed neck. She was hypotonic with frog-like posture, weak cry and no sucking reflex. A battery genetic test including karyotype, methylation test for Prader Willi syndrome and microarray was sent. Diagnosis was finally reached when she was 11-month-old, when whole exome sequencing identified a likely pathogenic mutation in KCNK9 gene. Discussion/Conclusion: Children with Birk Barel syndrome need multidisciplinary care from birth. The rarity of this syndrome and unique molecular mechanism poses a challenge to the geneticist where counselling on prognosis and inheritance pattern is concerned.
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.
