DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for oculocutaneous albinism type 7 — 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 moduleOculocutaneous albinism type 7 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 oculocutaneous albinism type 7 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
WD repeat domain 45 (WDR45) — WDR45 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8KBX · 3.23 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Oculocutaneous albinism type 7 is not mentioned in any of the provided abstracts. The abstracts describe oculocutaneous albinism as a group of inherited disorders characterised by reduced or absent melanin biosynthesis from birth, with hypopigmentation of skin, hair, and eyes, and visual system defects including poor vision. A 2024 review states that 21 genes related to albinism have been identified, including 7 OCA-related genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, and DCT), but does not list an OCA7 gene. A 2025 review claims 22 genes have been identified across various forms, but again does not name an OCA7 gene. No abstract provides a specific gene or mutation for oculocutaneous albinism type 7.
Two abstracts from 2023 and one from 2025 state that there is no specific treatment for albinism. The 2023 abstract says palliative therapy (correction of vision) is used, along with recommendations for sun protection and reducing complications. The 2025 review notes that current management remains supportive, and that emerging therapies including gene-based interventions and repurposed pharmaceuticals show promise only in preclinical studies. No abstract reports any clinical trial of a drug for any form of oculocutaneous albinism, including type 7.
The 2010 abstract describes Hermansky-Pudlak syndrome type 1 (HPS1), which causes oculocutaneous albinism along with bleeding disorder and ceroid lipofuscinosis. In four patients from two families, platelets showed absence of dense bodies and severe pathological agglutination. Three different HPS1 gene mutations were found. The abstract recommends that patients with oculocutaneous albinism be investigated for bleeding symptoms, and that molecular genetic testing be performed to distinguish HPS subtypes for therapy and prognosis. No drug treatment is discussed.
A 2014 abstract speculates that oculocutaneous albinism may involve lysosome excretory defects leading to accumulation of intracellular material and kidney discolouration, but provides no patient data or treatment information. A 2024 case report describes a single 12-year-old patient with oculocutaneous albinism type 1A, but offers no treatment beyond diagnosis.
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 the European Academy of Dermatology and Venereology · 2003 · 75 citations
Oculocutaneous albinism
AbstractOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.
Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)
AbstractBACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by the absence of dense (delta)-bodies. There are eight known human HPS GENES (HPS1-HPS8), each leading to a particular clinical HPS subtype. Restrictive lung disease, granulomatous colitis and cardiomyopathy have been described in HPS1 patients. PATIENTS: We identified HPS1 in Russian and in German siblings. All four patients show a typical HPS phenotype. The two older Russian patients demonstrate excessive bleeding after tooth extractions, recurrent epistaxis and hematomas. The two younger German patients suffer only from hematomas, so far. METHODS/RESULTS: Patients' platelets showed severe pathological agglutination/aggregation. Flow cytometry analysis demonstrated absence of platelet delta-granule secretion. Three different mutations in the HPS1 gene were found in the two families. Two mutations, p.H119delC and p.Q397delC identified in the Russian siblings had been previously described. The German siblings presented with a novel frameshift mutation (p.Q32_S33delCAGT) and the known p.Q397delC mutation. CONCLUSION: Patients with oculocutaneous albinism should be investigated for increased clinical bleeding symptoms. In case of increased bleeding symptoms, analyses of primary hemostasis should be initiated to confirm HPS. Molecular genetic investigations should be performed to distinguish the different subtypes of HPS which is important for therapy and prognosis.
AbstractImplication for health policy/practice/research/medical education: Oculocutaneous albinism may be similar to two related syndromes (Hermansky-Pudlak and Chediak-Higashi) and could lead to more widespread lysosome excretory defects. These defects could lead to accumulation of some intracellular material, leading to the gross discoloration of the kidney.
Zenodo (CERN European Organization for Nuclear Research) · 2023 · 0 citations · open access
ALBINISM DISEASE - CLASSIFICATION, DIAGNOSIS, SYMPTOMS AND TREATMENT MEASURES
AbstractAlbinism is a group of hereditary pathologies characterized by a violation or complete absence of skin, hair, eye pigmentation. The main symptoms of the disease are very pale skin and hair, blue or red eyes, and in some cases, vision impairment. The diagnosis of albinism is made based on the current condition of the patient, as well as genetic tests. To date, there is no specific treatment for albinism, palliative therapy (correction of vision) is used, and there are a number of recommendations for patients to behave in the sun, protect the skin and reduce the likelihood of complications
Journal of Contemporary Medical Practice · 2024 · 0 citations · open access
New Progress in Molecular Genetics Research of Albinism
AbstractAlbinism is a clinical and genetic heterogeneity disease associated with reduced melanin biosynthesis, characterized by visual system defects, manifested as poor vision, accompanied by varying degrees of pigment deficiency. The pigment deficiency can affect the eyes, skin, and hair in Oculocutaneous Albinism (OCA) or Oculocutaneous Albinosis (OA) that only affects the eyes. Currently, 21 genes related to albinism have been identified, including 7 OCA related genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, and DCT), 1 OA related gene (GPR143), 1 FHONDA (SLC38A8), 1 CHS related gene (LYST), and 11 PHS related genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6, AP3D1, and BLOC1S5). This article reviews the progress of molecular genetics research on albinism, with the aim of providing new ideas for prenatal or early diagnosis of albinism patients.
Zenodo (CERN European Organization for Nuclear Research) · 2023 · 0 citations · open access
ALBINISM DISEASE - CLASSIFICATION, DIAGNOSIS, SYMPTOMS AND TREATMENT MEASURES
AbstractAlbinism is a group of hereditary pathologies characterized by a violation or complete absence of skin, hair, eye pigmentation. The main symptoms of the disease are very pale skin and hair, blue or red eyes, and in some cases, vision impairment. The diagnosis of albinism is made based on the current condition of the patient, as well as genetic tests. To date, there is no specific treatment for albinism, palliative therapy (correction of vision) is used, and there are a number of recommendations for patients to behave in the sun, protect the skin and reduce the likelihood of complications
Yakut Medical Journal · 2024 · 0 citations · open access
A clinical case of albinism in a 12 year old child
AbstractThe article presents a clinical case of oculocutaneous albinism type 1A. The albinism type and concomitant diseases are determined. Oculocutaneous albinism is an inherited autosomal recessive disorder which is characterized by hypopigmentation of the skin and hair besides ocular albinism. Keywords: oculocutaneous albinism type 1A, reduced visual acuity, pigmentation, Yakutia, the Arctic
Zenodo (CERN European Organization for Nuclear Research) · 2025 · 0 citations · open access
ALBINISM- A CONGENITAL DISORDER
AbstractABSTRACT Background: Albinism encompasses a group of inherited disorders characterized by reduced or absent melanin biosynthesis, affecting approximately 1 in 20,000 individuals worldwide with significant variability across geographical regions. These conditions present substantial clinical challenges and impact quality of life. Objective: This review aims to synthesize current understanding of albinism's genetic mechanisms, clinical manifestations, diagnostic approaches, available treatments, and emerging therapeutic strategies to provide a comprehensive framework for clinicians and researchers. Methods: A systematic literature search was conducted using PubMed, EMBASE, and Web of Science databases for articles published between 2000-2024, using keywords including "albinism," "oculocutaneous albinism," "ocular albinism," "melanin biosynthesis," "tyrosinase," and "albinism treatment." Studies were selected based on relevance, methodological rigor, and contribution to understanding albinism pathophysiology or treatment. Results: Recent advances have expanded understanding of albinism's genetic basis, with 22 genes now identified across various forms. Comprehensive phenotypic characterization has refined diagnostic approaches, while emerging therapies including gene-based interventions and repurposed pharmaceuticals show promise in preclinical studies. Conclusion: Albinism represents a paradigm for understanding melanin biology and neurodevelopmental visual pathways. While current management remains supportive, emerging molecular-based therapies may offer disease-modifying potential. Multidisciplinary approaches and increased awareness are essential to address both medical and psychosocial aspects of these conditions.
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.
