DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Floating-Harbor 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 moduleFloating-Harbor 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 floating-harbor 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.
What the evidence adds up to
In a 2012 study of nine patients who met diagnostic criteria for Floating-Harbor syndrome, exome sequencing identified truncating mutations in the SRCAP gene in six of the nine cases. All six mutations were de novo and located in exon 34. Three of the nine cases had no SRCAP mutation, indicating genetic heterogeneity. No major clinical differences were observed between mutation-positive and mutation-negative patients, suggesting clinical homogeneity despite the genetic findings.
The syndrome was first described in 1990 in two unrelated boys with short stature, speech delay, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia, and brachydactyly. Their radiographic findings included vertebral body irregularities, odontoid hypoplasia, short phalanges with increased distal width, coning and sclerosis of epiphyses, and overtubulation of long bones. The authors noted that these radiographic changes were distinctive and not suggestive of a recognised skeletal dysplasia syndrome.
A 2005 case report described a patient with Floating-Harbor syndrome complicated by a tethered spinal cord, an association not previously reported. The authors raised the possibility that growth hormone therapy might contribute to the development of symptoms of this malformation. A 2006 follow-up of the first reported patient, now 32 years after initial description, noted that he remained in good overall health, his facial features had remained characteristic with some age-related changes, and he had mild to moderate mental retardation but had been employed for 15 years.
What is still missing is a larger, genetically stratified cohort to clarify the proportion of cases without SRCAP mutations and whether those represent a distinct disorder. No laboratory test is available for diagnosis, which still relies on facial features. The role of growth hormone therapy in spinal complications remains unconfirmed, and no clinical trial has addressed any intervention for the syndrome’s core features.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Human Mutation · 2012 · 32 citations
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of<i>SRCAP</i>
AbstractFloating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients.
American Journal of Medical Genetics · 1990 · 26 citations
A “new” skeletal dysplasia in two unrelated boys
AbstractWe report on 2 unrelated boys with similar physical and radiographic findings that may represent a "new" skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. Radiographic findings include mild irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges with increased distal width, coning and sclerosis of several epiphyses, and overtubulation of the long bones. Although these patients share some manifestations with the floating-harbor syndrome (Robinson et al.: J Pediatr 113:703-706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized skeletal dysplasia syndrome.
American Journal of Medical Genetics Part A · 2005 · 24 citations
Floating‐Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy
AbstractFloating-Harbor syndrome is a rare syndrome with short stature, severely delayed bone age, typical facies and delay in expressive speech. Structural malformations are uncommon, and tethered cord or other forms of spinal dysraphism have not previously been reported. We report on a case of Floating-Harbor syndrome, complicated by tethered cord and discuss the possibility that growth hormone therapy may contribute to the development of symptoms of this malformation.
American Journal of Medical Genetics Part A · 2006 · 17 citations
Thirty‐two year follow‐up of the first patient reported with the Floating‐Harbor syndrome
AbstractA 32-year follow-up of the first patient reported with the Floating-Harbor syndrome is discussed. He has been in good overall health. His facial appearance, a hallmark of this syndrome, had remained fairly characteristic except for some changes secondary to age. While he does have mild to moderate mental retardation, he has been employed for the past 15 years. Because no laboratory tests are presently available to diagnose the Floating-Harbor syndrome, the author recommends that the typical facial features present in the first two patients reported with this syndrome be present before the diagnosis can be made.
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.
