DeCure for Intellectual disability, autosomal dominant 56
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 56 — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleIntellectual disability, autosomal dominant 56 maps to a 3-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 intellectual disability, autosomal dominant 56 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
clathrin heavy chain (CLTC) — CLTC 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 4-nitrophenyldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6E4L · 1.6 Å · ligand 5-bromo-N-(4-nitrophenyl)thiophene-2-sulfonamide (HRS). Experimental structure, not a prediction.
What the evidence adds up to
A 7-year-old girl with Floating-Harbor syndrome, caused by a heterozygous SRCAP mutation (c.7330C>T, p.Arg2444*), received growth hormone therapy for 55 months despite having no growth hormone deficiency. Her height standard deviation score improved over that period. She had severe intellectual disabilities, obsessive-compulsive and aggressive behaviours, and short stature. No other patients with this syndrome were reported in that case, and no cognitive or behavioural outcome was measured after treatment.
Bohring–Opitz syndrome, another autosomal dominant disorder, is characterised by microcephaly, trigonocephaly, low-set ears, hypertelorism, exophthalmos, palate anomalies, micrognathia, intrauterine growth restriction, severe feeding difficulties, failure to thrive, developmental delay, seizures, high myopia, and intellectual disability. No treatment trial for the intellectual disability component was described in the abstract.
A heterozygous nonsense variant in TRIP12 (c.40C>T, p.Arg14X) was identified by whole exome sequencing in a patient with autosomal dominant intellectual disability. The variant was de novo, absent from the Human Gene Mutation Database, and classified as pathogenic. No therapy was tested.
A homozygous missense variant in SLC6A17 (c.1693T>C, p.Tyr565His) was found in a Pakistani family with autosomal recessive intellectual disability (MRT48). The disorder includes progressive tremors, speech impairment, and behavioural problems. The variant segregated with the phenotype. No treatment was investigated.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Annals of Pediatric Endocrinology & Metabolism · 2020 · 11 citations · open access
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
AbstractFloating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
Mental Illness and Intellectual DisabilityMental Illness and Intellectual Disability
AbstractThe Diagnostic Manual—Intellectual Disability: A Textbook of Diagnosis of Mental Disorders in Persons with Intellectual Disability (DM–ID) provides adaptations of the diagnostic criteria in the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM–IV–TR; American Psychiatric Association, 2000) that will facilitate more accurate diagnosis of psychiatric conditions in people with intellectual disability (ID). The text also provides a review of the relevant scientific literature for each condition and a rating of the strength of the evidence supporting assertions in the literature. The volume is the product of considerable effort; the four editors were assisted in their task by a 10member advisory board, seven external peer reviewers, dozens of Diagnostic Manual—Intellectual Disability: A
New Insights Into Intellectual Disability Caused by Mutations in a Chromatin Regulator
AbstractIntellectual disability (ID) is defined as limitations in both mental capacity and adaptive behaviour, and affects 2–3% of the population worldwide. A subset of ID, thought to be 5–10% of ID in males, is caused by mutations on the X chromosome (X-linked intellectual disability; XLID). Improvements in sequencing technologies have enabled the association of numerous genetic variants with ID, but the underlying etiology remains poorly understood, and diagnosis and treatment remain limited. Mutations in KDM5C (also known as JARID1C and SMCX) were first found in XLID patients in 2005 (Jensen et al., 2005).
Bohring–Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing
AbstractBohring–Opitz syndrome (OMIM BOHRING–OPITZ SYNDROME; BOPS #605039) is a rare, sporadic autosomal dominant genetic disorder that is characterized by distinctive facial dysmorphism features, such as microcephaly or trigonocephaly, low-set or posteriorly rotated ears, hypertelorism, exophthalmos, palate anomalies, and micrognathia [1]. Other phenotypic characteristics include intrauterine growth restriction (IUGR), severe feeding difficulties, failure to thrive, developmental delay, seizures, high myopia, and intellectual disability [2].
[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].
AbstractOBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION: The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
Biallelic Variant in <scp> <i>SLC6A17</i> </scp> in a Pakistani Family With Autosomal Recessive Intellectual Disability
AbstractAutosomal recessive intellectual disability affects 1%-3% of the general population and is a major concern in countries where consanguineous marriages are common. Mental retardation autosomal recessive 48 (MRT 48) (OMIM 616269) is a recessive syndromic disorder characterized by progressive tremors, speech impairment, and behavioral problems. In the present study, we highlight a family with a case of MRT 48. The index patient was second born to healthy consanguineous parents with a history of intellectual disability. Whole exome sequencing of the patient was performed, which revealed a homozygous c.1693T>C;p.(Tyr565His) variant in the SLC6A17 gene. The variant segregated in the extended family with the phenotype. This study broadens the genotypic spectrum of SLC6A17 variants.
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.
