Rare & Orphan Lab · DeCure for X

DeCure for Isolated familial wooly hair disorder

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for isolated familial wooly hair disorder — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0111572$DeCureRare

The disease map

Disease moduleIsolated familial wooly hair disorder 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 isolated familial wooly hair disorder 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

lysophosphatidic acid receptor 6 (LPAR6)LPAR6 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 2rdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 9ITE · 3.06 Å · ligand (2R)-2-hydroxy-3-(phosphonooxy)propyl (9E)-octadec-9-enoate (NKP). Experimental structure, not a prediction.

What the evidence adds up to

Two case reports describe isolated familial woolly hair in a Korean girl and her cousin (2007) and in two Indian siblings (2020). The 2007 report notes cuticular damage with splintering on scanning electron microscopy. The 2020 report states that a diagnosis of woolly hair was made based on clinical features alone, with no systemic findings. A 2011 report on a new family with two affected siblings argues the disorder is not rare but is possibly misdiagnosed and underreported.

A 2025 case series of eight patients with autosomal recessive woolly hair in an Indian population describes their clinical presentation, hair characteristics and response to treatment, but the abstract gives no concrete numbers for any outcome, no survival data, and no response rates. No drug treatment is mentioned in any of the four abstracts.

What is still missing is any controlled trial of a drug for isolated familial woolly hair, any molecular or genetic characterisation that could guide patient stratification, and any funding for such work. The disorder remains defined by clinical description alone, with no evidence that any pharmacological intervention alters its course.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Dermatology Reports · 2011 · 3 citations · open access

Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family

AbstractAutosomal recessive hypotrichosis simplex with woolly hair is a rare dermatological disorder, characterized by sparse hair and tightly curled hair. We report on a new family affected with this disorder which has not previously been reported. In this family, 2 siblings were affected. We believe that the disorder is not rare, but is possibly misdiagnosed, and hence underreported.

https://doi.org/10.4081/dr.2011.e13
Annals of Dermatology · 2007 · 2 citations · open access

A Case of Woolly Hair

AbstractWoolly hair is normal for most black people, but it is usually abnormal for persons of a non-African or non-Negroid background. A 5-year-old girl visited our clinic complaining of a hair abnormality. Her hair had been tightly curled, fine, and hypopigmented on the entire scalp since birth. Her uncle’s son had similar abnormalities of his scalp hairs. On the scanning electron microscopy, the patient’s hair revealed cuticular damage with splintering. To the best of our knowledge, this is the first description of a patient with woolly hair who has familial history in Korea. (Korean J Dermatol 2009;47(11):1284∼1287)

https://doi.org/10.5021/ad.2007.19.2.72
AMEI's Current Trends in Diagnosis & Treatment · 2020 · 0 citations

Woolly Hair: A Distinct Diagnosis

AbstractAim and objective: To report a case of woolly hair in a 7-year-old girl due to its rarity.Background: Woolly hair is a rare autosomal dominant disorder manifested by short, tightly coiled hair.When associated with systemic findings, it is known as woolly hair syndrome.Case description: A 7-year-old girl presented in Dermatology OPD at Sri Guru Ram Das Institute of Medical Sciences and Research with a complaint of short, curly, brittle hair since birth.A similar complaint was present in her 9-year-old sibling.There were no associated systemic features.Based on the clinical features, a diagnosis of woolly hair was made. Conclusion:We are presenting this case due to its exclusive occurrence.Clinical significance: Awareness and knowledge of varied associations of woolly hair will help in early diagnosis and alleviate any complications.Hence, a thorough history and examination is mandatory to rule out any associated features.

https://doi.org/10.5005/jp-journals-10055-0096
Skin Health and Disease · 2025 · 0 citations · open access

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population

AbstractWoolly hair is an uncommon disorder of the hair shaft, characterized by tightly coiled scalp hair often accompanied by varying grades of hypotrichosis. Woolly hair involving the entire scalp can be syndromic when associated with various anomalies involving the heart, nervous system, liver, gastrointestinal organs and so on, and is designated as nonsyndromic when it occurs in isolation without any systemic involvement. Nonsyndromic woolly hair can be autosomal dominant or autosomal recessive. We hereby present a series of eight cases of autosomal recessive woolly hair (ARWH) seen in an Indian population in the last 12 years. Their clinical presentation, hair characteristics and response to treatment is described.

https://doi.org/10.1093/skinhd/vzaf082

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.