DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Rothmund-Thomson syndrome — 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 moduleRothmund-Thomson syndrome 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 rothmund-thomson 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
RecQ like helicase 4 (RECQL4) — RECQL4 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 5LST · 2.75 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A single case report from 1986 describes the first proven growth hormone deficiency in a patient with Rothmund-Thomson syndrome, suspected because of severely retarded growth and bone age and failure to respond normally to stimulation testing with l-DOPA, arginine, and growth hormone releasing factor. A 1995 report describes an 18-year-old man with Rothmund-Thomson syndrome and Addison disease who, because of delayed growth, was given a trial of recombinant growth hormone at age 10; after six years of treatment no improvement in height, bone, or sexual maturation was observed. The authors suggest this may relate to a defect in connective tissue metabolism. Chromosomal analysis of peripheral blood lymphocytes in that patient showed increased numbers of breaks and gaps, and fibroblasts cultured from affected skin did not grow.
Ocular surface findings are described in two siblings from a 2016 report, with inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes — findings different to those usually described. A 2022 case series from a tertiary paediatric hospital in Mexico reports a 4-year-old male with a RECQL4 gene mutation who presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development, hypoacusis, skeletal alterations, severe malnutrition, and chronic asymptomatic hypodontia. A 2-year-old female in the same series presented with facial erythema spreading to arms and legs at three months; skin biopsy showed poikiloderma, and she was followed for short stature and hypogonadism, but no genetic study was performed. A 2007 report describes two siblings whose clinical features raised only cosmetic concerns for the parents; the authors advised regular follow-up for early detection of complications including malignancies and sun protection with broad spectrum sunscreens and physical barriers.
The 1995 report notes that patients with Rothmund-Thomson syndrome are prone to developing cancer, though no malignant disease was found in that patient. The 2022 series provided multidisciplinary follow-up including genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopaedics, rehabilitation, ophthalmology and oncology services. The 1986 authors recommend that growth hormone deficiency be considered in these syndromes when growth failure is more marked than expected, but the only trial of growth hormone reported showed no benefit. What is still missing are prospective studies with adequate sample sizes, standardised endocrine and ophthalmologic assessments, and any controlled trial of growth hormone or other interventions. No drug treatment has been shown to alter the natural history of the syndrome.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1986 · 24 citations
Growth hormone deficiency in the Rothmund‐Thomson syndrome
AbstractWe describe the first proven occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with l-DOPA, arginine, and growth hormone releasing factor. In addition, we have briefly reviewed other genetic and malformation syndromes that have been found associated with growth hormone deficiency. We recommend that growth hormone deficiency be considered in these syndromes, especially when the growth failure is more marked than expected.
Arquivos Brasileiros de Oftalmologia · 2016 · 9 citations · open access
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature
AbstractRothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.
AbstractWe report an 18-year-old man with the unusual combination of Rothmund-Thomson syndrome (RTS) and Addison disease. He was admitted when he was 26 months old because of short stature, dehydration, metabolic acidosis, hyperpigmentation, and typical skin lesions. Because his growth remained delayed, at age 10 years he was given a trial of recombinant growth hormone. After six years of treatment no improvement in height, bone, or sexual maturation was observed. This fact may be related to a defect in connective tissue metabolism. Chromosomal analysis of peripheral blood lymphocytes revealed increased numbers of breaks and gaps. Fibroblasts cultured from affected skin did not grow. Patients with RTS are prone to developing cancer, but no malignant disease was found in our patient. Early diagnosis and treatment of both endocrinologic and malignant complications are essential for survival of patients with this rare syndrome.
Boletín Médico del Hospital Infantil de México · 2022 · 3 citations · open access
Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico
AbstractBACKGROUND: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level. CASE REPORTS: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed. CONCLUSIONS: Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.
Rothmund-thomson syndrome: more than just a cosmetic concern.
AbstractRothmund-Thomson syndrome is a rare autosomal recessive poikilodermatous disorder with various inconsistent features. Clinical features of two siblings are described, which raised only just cosmetic concerns for the parents. The parents were counseled and advised regular follow-up for early detection of complications including malignancies and to protect the children from sun exposure by using broad spectrum sun screens and physical barriers.
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature
AbstractABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.
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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