DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Shwachman-Diamond syndrome — 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 moduleShwachman-Diamond syndrome 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 shwachman-diamond 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
elongation factor like GTPase 1 (EFL1) — EFL1 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 5ANB · 4.1 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Shwachman-Diamond syndrome is a rare autosomal recessive disorder with only a few hundred cases reported. No specific diagnostic test is available; diagnosis rests on a characteristic combination of exocrine pancreatic insufficiency, bone marrow dysfunction (neutropenia, thrombocytopenia, anaemia), skeletal abnormalities, and short stature, and is confirmed by molecular genetic testing showing mutation in the SBDS gene on chromosome 7q or 11. Pancreatic insufficiency should be tested for or lipomatosis demonstrated radiologically. The syndrome can present in children of all ages or in adults, most commonly in infancy. A life-threatening event may be the first clinical manifestation.
A 2022 case report describes neonatal onset with arrhythmia as the first manifestation; that patient had no pancreatic exocrine gland dysfunction at the initial stage of disease. Gene detection showed SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. A 2022 case from Pakistan reports a 2-year-old male child with severe failure to thrive, diarrhoea and vomiting who was diagnosed after extensive evaluation. A 2024 clinical case study notes that Shwachman-Diamond syndrome is the second most common form of primary exocrine pancreatic insufficiency in children. Treatment is syndromic and includes dietary therapy, enzyme replacement therapy, supplementation with fat-soluble vitamins, and correction of haematologic disorders.
The abstracts contain no drug trials, no survival data, no response rates, and no mention of any drug being tested or repurposed for this syndrome. What is missing is any controlled clinical evidence for pharmacological intervention, a standardised treatment protocol beyond supportive care, and systematic patient stratification by genetic subtype or haematologic severity. No drug can be recommended from these data.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Signa Vitae · 2007 · 4 citations · open access
Shwachman Diamond Syndrome: an emergency challenge
AbstractShwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome.
Pharmacogenomics and Personalized Medicine · 2022 · 2 citations · open access
Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review
AbstractObjective: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). Methods: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome. Results: /l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. Conclusion: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment.
Tierras de León: Revista de la Diputación Provincial · 1993 · 0 citations
El perfeccionamiento del Magisterio primario en León a principios de siglo: los "Cursillos pedagógicos"
AbstractSo much has been added to our knowledge of Shwachman-Diamond syndrome (SDS) since it was last reviewed in this journal some 25 years ago, that there is now an urgent need to bring the condition to the attention of a new generation of paediatricians. SDS, although a rare autosomal recessive disorder, demands wide attention because it features in the differential diagnosis of a number of important childhood diseases. It can be diagnosed in children of all ages, or in adults. SDS most commonly presents in infancy with features of exocrine pancreatic insufficiency, bone marrow dysfunction, and short stature.
Biomedical Journal of Scientific & Technical Research · 2022 · 0 citations · open access
"Shwachman-Diamond Syndrome in a Child with Severe Failure to Thrive and Gastrointestinal Symptoms, in Pakistan"
AbstractShwachman-Diamond syndrome (SDS) is an autosomal recessive multi-organ genetic disorder characterized mainly by exocrine pancreatic insufficiency, skeletal abnormalities and hematological abnormalities due to bone marrow dysfunction. It is a rare condition with only a few hundred cases reported. Herein, we report a case of SDS for the first time in Pakistan. Our patient, a 2-year old male child, presented with a chronic history of severe failure to thrive, diarrhea and vomiting. After undergoing extensive evaluation and testing, he was eventually diagnosed as a case of SDS. Elaborate clinical features and details pertaining to the diagnostic process and management are described.
Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome)
AbstractThe purpose of the article is to increase the vigilance of clinicians in various fields of medicine to Shwachman-Diamond syndrome in children and to raise awareness of its clinical manifestations, diagnosis and treatment using the example of the case study. An empirical, descriptive study of a clinical case of Shwachman-Diamond syndrome in a child was conducted. In addition, the literature data from PubMed, Medscape, and CDC were analyzed. Shwachman-Diamond syndrome is an autosomal recessive disease characterized by absolute exocrine pancreatic insufficiency and is the second most common form of primary exocrine pancreatic insufficiency. The diagnosis is made in the presence of a characteristic combination of exocrine pancreatic function disorders, hematologic manifestations (neutropenia, thrombocytopenia, anemia), skeletal abnormalities and is confirmed by molecular genetic testing (mutation in the SBDS gene, which is localized on 7q or 11 and inversion of the 9th chromosome pair). Early diagnosis and timely treatment prevent the onset of adverse symptoms and disability. Treatment is complex and syndromic and includes dietary therapy, enzyme replacement therapy, supplementation with fat-soluble vitamins and correction of hematologic disorders.
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.
