DeCure for Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSevere intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome maps to a 2-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 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism 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
TELO2 interacting protein 2 (TTI2) — TTI2 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 7OLE · 3.41 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). 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.
Molecular Genetics & Genomic Medicine · 2020 · 15 citations · open access
<i>DYRK1A</i> pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
AbstractBACKGROUND: DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined. METHODS AND RESULTS: We present two unrelated cases of DYRK1A-Related Intellectual Disability Syndrome resulting from variants in DYRK1A. Both probands presented to the National Institutes of Health (NIH) with multiple dysmorphic facial features, primary microcephaly, absent or minimal speech, feeding difficulties, and cognitive impairment; features that have been previously reported in individuals with DYRK1A. During NIH evaluation, additional features of enlarged cerebral subarachnoid spaces, retinal vascular tortuosity, and bilateral anomalous large optic discs with increased cup-to-disc ratio were identified in the first proband and multiple ophthalmologic abnormalities and sensorineural hearing loss were identified in the second proband. CONCLUSION: We recommend that the workup of future of patients include a comprehensive eye exam. Early establishment of physical, occupational, and speech therapy may help in the management of ataxia, hypertonia, and speech impairments common in these patients.
Annals of Translational Medicine · 2017 · 0 citations · open access
AB060. A family with three children of rare intellectual disability syndrome
AbstractBackground: Intellectual disability (ID) with dysmorphic features can be caused by many genetic disorders, which commonly overlap with one another, making specific diagnosis difficult. Methods: Dysmorphology examination of face, limbs, and external genitalia was performed and followed by dysmorphology analysis with POSSUM and Face2Gene software. Results: A 15-year-old girl with ID, nonspecific muscle weakness, and failure-to-thrive was identified. She sat at the age of 1.5 years and walked at 7 years. She had her menarche at the age of 15 years, and irregular menstrual cycles and oligomenorrhea. Physical examination revealed short stature (117 cm, <3rd percentile), underweight (22 kg, <3rd percentile), and small head circumference (51 cm, <3rd percentile). Dysmorphic features included strabismus, frontal bossing, cupid bow lips, and high arched palate, low posterior hairline, sparse hair, clinodactyly of the 4th finger, disharmony toes and syndactyly of 2nd–3rd toes. Genital examination showed labia minor protrusion and minimal spurt at labia major. Echocardiography and renal ultrasonography are ongoing. Family history revealed parental consanguinity, and that the patient was the 2nd child. Her oldest and youngest sisters were reported to have similar conditions with more severe disability, both died at 7.5 and 9 years, respectively. The youngest sister could not communicate verbally. She cried when urinating. She had keratitis and cataract of both eyes, joint contracture, spasticity with severe muscular atrophy. Detailed clinical data of the oldest daughter was unavailable. All three children were born with low birth weight. The analysis software revealed a possible diagnosis of Verheij syndrome (8q24.3 microdeletion), which is characterized by antenatal and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Conclusions: Dysmorphology analysis software is a very useful tool for clinician to make a specific diagnosis for highly heterogeneous conditions such as ID with dysmorphic features.
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.
