DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Hermansky-Pudlak syndrome — screening already-approved drugs against its 9-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHermansky-Pudlak syndrome maps to a 9-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 hermansky-pudlak 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
ceruloplasmin (CP) — CP 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 oxydrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4ENZ · 2.6 Å · ligand OXYGEN MOLECULE (OXY). Experimental structure, not a prediction.
What the evidence adds up to
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterised by oculocutaneous albinism, platelet storage pool deficiency leading to a bleeding diathesis, and ceroid lipofuscin accumulation. The syndrome was first described in 1959. It has been reported globally but has its highest frequency in a cluster population in the northwest corner of Puerto Rico, where the carrier incidence is 1 in 21. Major organ involvement typically includes pulmonary fibrosis and granulomatous colitis; cardiomyopathy and renal dysfunction have been described rarely. A 2021 report notes that common manifestations also include nystagmus, lighter skin and hair colour than family members, prolonged bleeding after minor procedures, and neutropenia. A 2014 case report describes an HPS patient with pulmonary fibrosis.
A 2020 study used next-generation sequencing panel analysis covering all ten HPS genes to identify mutations in three patients with typical symptoms. Two brothers shared a compound heterozygous genotype consisting of a novel splice site variant (c.987+1[G>A]) and a previously reported mutation (c.1189[delC]) in the HPS1 gene. An unrelated third patient had the same one-base-pair deletion c.1189[delC] compound heterozygous with another reported deletion (c.355[delC]). Platelet aggregometry and flow cytometry confirmed pathological platelet function and decreased platelet delta granule secretion in all three. The authors conclude that early genetic diagnosis of the HPS type is important for prognosis and treatment because HPS1 patients are at risk of developing pulmonary fibrosis at middle age.
A 2010 case report describes the oldest historical patient with HPS type 6 and discusses associated gastrointestinal management. A 2005 study reports the identification of a conserved protein family that includes human HPS4 and distant homologs for other HPS genes, suggesting the cellular machinery involved in HPS is ancient. A 2009 review notes that affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. A 2021 report on HPS subtype 5 discusses the safety of cardiac catheterisation in patients with a bleeding diathesis, highlighting the clinical challenge this presents.
No abstract reports any controlled trial of a drug treatment for HPS. The literature consists entirely of case reports, genetic studies, and reviews describing the natural history of the syndrome. What is still missing is any randomised trial of a therapy for pulmonary fibrosis or colitis in HPS, any validated biomarker for disease progression, and any stratification of patients by HPS subtype in prospective treatment studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Clinical Gastroenterology · 2010 · 37 citations
The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome
AbstractHermansky-Pudlak syndrome (HPS) was first described in 1959 by Hermansky and Pudlak. Clinically, HPS is characterized by oculocutaneous albinism, platelet storage pool deficiency, and ceroid tissue accumulation. It is a rare disorder that has been described globally but has the highest frequency in a cluster population in Puerto Rico. HPS patients also have major organ involvement that typically includes pulmonary fibrosis and granulomatous colitis. Rarely have cardiomyopathy and renal dysfunction been described. We report a case of the oldest historical patient with HPS type 6 and the associated gastrointestinal management.
The CHiPS Domain – Ancient Traces for the Hermansky–Pudlak Syndrome
AbstractHermansky-Pudlak syndrome (HPS) is a rare disorder caused by malfunctions of lysosomes and specialized lysosome-related organelles, resulting primarily in oculocutaneous albinism and bleeding diathesis. The majority of the HPS genes have been described as novel, but herein we report the identification of a conserved protein family which includes human HPS4, as well as distant homologs for other HPS genes. Our results suggest that the cellular machinery involved in the HPS syndrome is ancient.
American Journal of Perinatology · 2009 · 5 citations
Hermansky-Pudlak Syndrome in Pregnancy
AbstractHermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in various ethnic groups, HPS is most common in individuals from the northwest corner of Puerto Rico, with a carrier incidence of 1 in 21.
The Journal of Association of Chest Physicians · 2014 · 4 citations · open access
Hermansky-Pudlak syndrome: A case report
AbstractHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin). The major complications of this disorder are pulmonary fibrosis (PF) and colitis. This is a case report of an HPS patient with PF.
Journal of Case Reports and Images in Medicine · 2021 · 0 citations · open access
Hermansky-Pudlak syndrome subtype 5 (HPS-5): Safety of cardiac catheterization in patients with a bleeding diathesis
AbstractIntroduction: Hermansky-Pudlak syndrome is a rare autosomal recessive form of albinism that leads to defective platelet aggregation and bleeding diathesis. This presents a potential challenge to clinicians involved in the care of these patients. Common manifestations include nystagmus, lighter skin, and hair color than family members, prolonged bleeding after minor procedures, pulmonary fibrosis, colitis, and neutropenia.
Archives of Clinical and Medical Case Reports · 2020 · 0 citations · open access
Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1 Patients
AbstractIntroduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. Patients with HPS characteristically present with oculocutaneous albinism, nystagmus and increased bleeding tendency. The symptoms are caused by malfunction of lysosome related organelles (i.e. melanosomes, platelets). Patients with HPS typically show impaired platelet delta granule secretion. We report three patients (two brothers and another unrelated patient) who presented with these typical symptoms. Methods and Results: Platelet aggregometry and flow cytometry analyses revealed pathological platelet function and decreased platelet delta granule secretion. Using NGS panel analysis comprising all 10 HPS genes a defect in the HPS1 gene was identified. The brothers share compound heterozygous a novel splice variant (c.987+1[G>A]) and an already reported mutation (c.1189[delC]). Although the third patient is not related with the brothers, he presented with the same one base pair deletion c.1189[delC] compound heterozygous with another already reported base pair deletion (c.355[delC]). Conclusions: Since HPS1 patients are at risk to develop pulmonary fibrosis at middle age, early genetic diagnosis of the HPS type is important for prognosis and treatment. In this study we identified a novel splice site variant (c.987+1[G>A]) in the HPS1 gene, diagnosed the patients as HPS1 type and therefore, enabled adequate follow-up and therapy.
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.
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