DeCure.ai

Rare & Orphan Lab · DeCure for X

DeCure for Stutter disorder

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for stutter disorder — screening already-approved drugs against its 17-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module17 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0060243$DeCureRare

The disease map

Disease moduleStutter disorder maps to a 17-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 stutter 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

dopamine receptor D2 (DRD2) — DRD2 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 8alphadrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 9BS9 · 2.28 Å · ligand (8alpha)-N,N-diethyl-6-methyl-9,10-didehydroergoline-8-carboxamide (7LD). Experimental structure, not a prediction.

What the evidence adds up to

Genetic research has identified mutations in the GNPTAB, GNPTG and NAGPA genes associated with stuttering, but these can be identified in less than 10% of familial cases. These mutations disrupt the lysosomal targeting pathway generating the Mannose 6-phosphate signal. The definitive cause of stuttering remains elusive, and treatment is limited to targeting superficial symptoms because eradication of the core pathology is not a realistic objective. Fluency-shaping approaches have the most robust outcome evidence among behavioural treatments, while stuttering management approaches rely on inferred evidence from cognitive behaviour therapy and desensitisation work in anxiety disorders. No single treatment approach can claim universal success with all adults who stutter.

Traditional behavioural treatments may alleviate overt symptoms, but documenting improvement in quality of life remains challenging because such measures are difficult to define and quantify validly. Research suggests self-acceptance is the single biggest factor of quality of life in western developed cultures, and lack of self-acceptance may impede a client's ability to manage stuttering. Self-help groups and peer support are described as essential, with the StutterTalk podcast created as a low-cost self-help resource available worldwide. The evidence base for these self-help interventions is largely descriptive rather than outcome-based.

Recent basic research has informed genetic contributions and possible neurological substrates, and several treatment approaches have been published with varying degrees of apparent efficacy. Attention has increased to therapeutic outcomes beyond the components of specific therapies. A goal-oriented experimental therapy programme for young stutterers was reported in 1965 with preliminary testing in several children, but no outcome data are provided. Technical options for stuttering therapy are discussed in terms of features and availability rather than clinical efficacy.

Qualitative research has added to understanding of the experiences and views of people who stutter, and reports on therapy experiences show that much remains to be learned and that clients should be involved in therapy and outcome planning. What is still missing is a precise etiology for the disorder, which limits treatment to symptom management. There are no data on pharmacological interventions from these abstracts, no controlled trials of any treatment approach, and no validated quality-of-life measures specific to stuttering. The field lacks large-scale randomised comparisons of comprehensive treatment approaches and any biomarker or genetic stratification that could guide personalised therapy.

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 Neurodevelopmental Disorders · 2011 · 64 citations · open access

Genetic approaches to understanding the causes of stuttering

AbstractStuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder.

https://doi.org/10.1007/s11689-011-9090-7
Seminars in Speech and Language · 2010 · 53 citations

Stuttering Treatment for Adults: An Update on Contemporary Approaches

AbstractThis article provides a brief overview of historical and current approaches to stuttering treatment for adults. Treatment is discussed in terms of stuttering management approaches, fluency-shaping approaches, and combined approaches. The evidence base for these various approaches is outlined. Fluency-shaping approaches have the most robust outcome evidence. Stuttering management approaches are based more on theoretical models of stuttering, and the evidence base tends to be inferred from work using the approaches of cognitive behavior therapy and desensitization with other disorders such as anxiety. Finally, comprehensive approaches to treating stuttering are discussed, and several clinical methods are outlined. Comprehensive approaches target both improved speech fluency and stuttering management. Although it is presented that a comprehensive approach to stuttering treatment will provide the best results, no single approach to stuttering treatment can claim universal success with all adults who stutter.

https://doi.org/10.1055/s-0030-1265760
International Journal of Language & Communication Disorders · 2006 · 35 citations · open access

Introduction to qualitative research and its application to stuttering

AbstractBACKGROUND: Those engaged in research might argue that we are involved in a process of explaining the world to others and to ourselves. The way in which we go about that process differs. The kind of questions we are concerned about answering will determine the approach we use, the information we gather and how we analyse the data. Some research questions are best answered using qualitative methods. AIMS: To explain the place of qualitative research methods within the context of different approaches to scientific enquiry. To describe qualitative research through an examination of the characteristics that differentiate it from quantitative approaches, to describe the types of strategies used, and the roles the researcher may adopt. To show how these methods have been applied to the study of stuttering. METHODS & PROCEDURES: Stuttering research was reviewed with the aim of finding studies using a range of qualitative methods. Work for discussion was selected based on historical importance, the methods used and the contribution the work has made to our understanding of stuttering and qualitative methods. MAIN CONTRIBUTION: Papers using explorative qualitative research and mixed methodologies are described and their various contributions to our understanding of stuttering are discussed. CONCLUSIONS: The qualitative research reviewed in this paper has added to our understanding of the experiences, thinking and views of people who stutter. The reports on people's experiences of therapy show that we still have much to learn and that we need to listen to our clients and involve them in therapy and in outcome planning.

https://doi.org/10.1080/13682820500343057
Seminars in Speech and Language · 2010 · 9 citations

Translating Recent Research into Meaningful Clinical Practice

AbstractThe goal of this article is to provide a synopsis of research, both basic and applied, that can improve the evaluation and treatment of stuttering in children and adults, as well as counseling of clients, families, and other professionals who interact with the person who stutters. Relevant basic research has informed genetic contributions to stuttering and possible neurological substrates of the disorder. Several treatment approaches to stuttering have recently been published, with varying degrees of apparent efficacy. There has also been increased attention to therapeutic outcomes that go beyond the components of the specific therapies themselves, which have the potential to improve therapy outcomes.

https://doi.org/10.1055/s-0030-1265757
ASHA Leader · 2008 · 4 citations

Digital Audio and Self-Help for People Who Stutter

AbstractYou have accessThe ASHA LeaderFeature1 Oct 2008Digital Audio and Self-Help for People Who Stutter Greg Snyder, PhD Peter Reitzes andMA, CCC-SLP Eric JacksonBS Greg Snyder Google Scholar More articles by this author , PhD, Peter Reitzes Google Scholar More articles by this author , MA, CCC-SLP and Eric Jackson Google Scholar More articles by this author , BS https://doi.org/10.1044/leader.FTR5.13142008.18 SectionsAbout ToolsAdd to favorites ShareFacebookTwitterLinked In Substantial neurological and genetic stuttering research has been published in recent years, yet the definitive cause of stuttering remains elusive and unknown (Bloodstein & Ratner, 2007). Researchers and clinicians understand that, without identifying the precise etiology, treatment is limited to targeting the superficial symptoms of stuttering. Consequently SLPs focus on behavioral and affective therapeutic long-term objectives because eradication of the core pathology is not a realistic or valid treatment objective at this time (Reitzes, 2006). As a result, many feel that appropriate long-term stuttering treatment should include the goal of effective communication with anyone at any time in any environment, regardless of stuttering frequency, without shame, guilt, or fear (Hood, 2001); and the use of holistic treatment approaches to improve one’s quality of life (QOL) (Reitzes, 2006). Traditional behavioral treatments may, and often do, alleviate the overt symptoms of stuttering (Starkweather & Givens-Ackerman, 2007). However, documenting that traditional stuttering treatments actually improve the clients’ QOL remains challenging because measures of QOL are difficult to define operationally and thus difficult to quantify with validity (Ryff, 1995; Ryff & Keyes, 1995). Research suggests that self-acceptance remains the single biggest factor of QOL for those living in cultures in the “western” developed world (Ryff, 1995; Ryff & Keyes, 1995). Lack of self-acceptance may significantly impede a client’s ability to manage and cope with stuttering (Manning, 2000). Subsequently, SLPs and others have noticed the therapeutic efficacy of patient self-acceptance (Reardon & Reeves, 2002; Yaruss et al., 2002). Research reveals that programs focusing on acceptance of self and one’s medical condition improve patients’ QOL (Clement & Tharyan, 2004). In self-help groups, clients who stutter and their families seek to improve their QOL through increased self-acceptance (Kurtz, 1997), mentorship (Reardon & Reeves, 2002), peer support (Reitzes, 2006), self-image (Yaruss et. al, 2002), and acceptance of stuttering in non-avoidant ways (Bloodstein & Ratner, 2007). Manning (2003) noted, “The support of others who stutter is essential, and the value of support groups cannot be emphasized enough” (p. 120). Self-help organizations, such as the National Stuttering Association (NSA) and Friends: The National Association of Young People Who Stutter, help many people who stutter (Reitzes, 2006). Local self-help groups also are available in some communities. However, for many people who stutter and their families, access to such groups is limited because of travel costs, local availability, family demands, language difficulties, or their comfort level with the process. Numerous online support options are available such as e-mail groups and electronic forums, but such venues are largely reserved for typed communication. In response to the limitations of existing self-help support-group options, StutterTalk was created to serve people who stutter at little or no cost to listeners. StutterTalk is a self-help podcast, available worldwide through the Internet, created by people who stutter for people who stutter, their families, SLPs, and students. Listeners hear us stutter and hear us talking about stuttering from healthy, open, and honest perspectives. A podcast is similar to an archived radio program. Episodes may be downloaded or played (streamed) online at any time by going to the StutterTalk Web site or by subscribing to the podcast via free programs such as iTunes. Episodes are often downloaded onto computers and portable devices such as digital music players (e.g., iPods) and cell phones (e.g., iPhones, Blackberries). StutterTalk has interviewed many people who stutter, including renowned researchers and clinicians, as well as people who stutter and parents of teenagers who stutter. StutterTalk also publishes video podcasts on YouTube and audio podcasts in different languages. StutterTalk has collaborated with self-help organizations such as the NSA and the Manhattan Stuttering Group to record podcasts at national and local stuttering events. StutterTalk episodes have focused on a range of topics including voluntary stuttering (episode 9), covert stuttering (episodes 17, 25, 63), speaking strategies (episodes 24, 59), acceptance (episodes 37, 38, 39), the role of religion in therapy (episode 23), talking to parents about stuttering (episode 41), perspectives from teenagers who stutter (episodes 46, 47), and pet peeves (episode 4). We have interviewed researcher Dennis Drayna (episode 18) on genetic research, physician Gerald Maguire (episode 51) on pharmaceutical treatment and research, and several SLPs: Phillip Schneider (episodes 37, 38) on the process of change, Nan Bernstein Ratner (episode 55) on the relationship between stuttering and language, Ken St. Louis (episode 19) on person-first language and cluttering, Catherine Montgomery (episode 50) on intensive speech treatment, and Kristin Chemla (episode 31) on recovery from shame. This month, StutterTalk is scheduled to interview researcher Ronald Webster from the Hollins Communications Research Institute. StutterTalk may be reached at 206-888-4619 or [email protected]. References Bloodstein E. & Ratner N.B. (2007). A handbook on stuttering (6th ed.) Clifton Park, NY: Delmar Cengage Learning. Google Scholar Clement S.C. & Tharyan P.V. (2004). Self acceptance leads to better quality of life among HIV positive persons. Research presented at the International Conference on AIDS: July 11–16, Bangkok, Thailand. Abstract no. D10531. Google Scholar Kurtz L.F. (1997). Self-Help and Support Groups: A Handbook for Practitioners. The United States of America: Sage Publications, Inc. Google Scholar Manning W.H. (2000). Clinical decision making in fluency disorders. San Diego, CA: Singular Publishing. Google Scholar Manning W. H. (2003). Finding your own path without professional help.In Hood S. (Ed.), Advice to those who stutter. (2nd edition) (Publication 2009) (pp. 117–123). Memphis, TN. Google Scholar Ryff C. (1995). Psychological Well-Being in Adult Life.Current Directions in Psychological Science, 4(4), 99–104. CrossrefGoogle Scholar Ryff C. & Keyes C.L.M. (1995). The Structure of Psychological Well-Being Revisited.Journal of Personality and Social Psychology, 69(4), 719–727. CrossrefGoogle Scholar Starkweather C.W., & Givens-Ackerman J. (1997). Stuttering. Austin, TX: Pro-Ed. Google Scholar Author Notes Greg Snyder, PhD, an assistant professor in the Department of Communication Sciences and Disorders at the University of Mississippi, conducts research on the existence of the stuttering phenomenon in multiple modalities of expression, as well as prosthetic stuttering management. Peter Reitzes, MA, CCC-SLP, is a published author working in Brooklyn, N.Y., in public schools and private practice. He is an adjunct professor at Long Island University and Touro University. Eric Jackson, BS, is a graduate student and graduate fellow in the speech-language pathology program at Brooklyn College in New York. Advertising Disclaimer | Advertise With Us Advertising Disclaimer | Advertise With Us Additional Resources FiguresSourcesRelatedDetailsCited ByPerspectives of the ASHA Special Interest Groups5:5 (1131-1138)23 Oct 2020Stuttering-Related Podcasts: Audio-Based Self-Help for People Who StutterLauren E. Dignazio, Megan M. Kenny, Erik X. Raj and Kyle D. PelkeyPerspectives on Fluency and Fluency Disorders19:1 (28-38)1 Feb 2009The Infusion of Interactive Digital Media With Self-Help and Stuttering TreatmentPeter Reitzes and Greg Snyder Volume 13Issue 14October 2008 Get Permissions Add to your Mendeley library History Published in print: Oct 1, 2008 Metrics Downloaded 262 times Topicsasha-topicsleader_do_tagleader-topicsasha-article-typesCopyright & Permissions© 2008 American Speech-Language-Hearing AssociationLoading ...

https://doi.org/10.1044/leader.ftr5.13142008.18
Exceptional Children · 1965 · 2 citations

Therapy for Young Stutterers

AbstractUntil recently therapy for young stutterers has been largely ignored. Public school speech therapists, confronted with the many problems these children present, struggle along as best they can by attempting to modify adult stuttering therapy to fit the children. This report presents a goal oriented experimental program of therapy and the results of preliminary testing with several children.

https://doi.org/10.1177/001440296503100802
Psychology Press eBooks · 2014 · 1 citations

Technical Support for Stuttering Treatment

AbstractA discussion of all technical options for stuttering therapy would be too broad to be handled in one chapter. Therefore, the following critique is a selection of those clinical technologies most likely to be of interest to providers. It is biased toward discussion of technical features, functionality, and availability of the products. Although a thorough discussion of their clinical implementation would be desirable and much needed at this point, it would not have much meaning without first considering the basic facts about the available tools.

https://doi.org/10.4324/9781315805580-14
Seminars in Speech and Language · 2014 · 1 citations

Brain, Temperament, and Behavior: New Approaches to Understanding Fluency Disorders

AbstractIt is a pleasure to introduce this issue, one of a continuing series of updates that Seminars in Speech and Language offers its readers on recently released research findings relevant to the clinical assessment, treatment and counseling of individuals who stutter and their families. With one exception, the papers in this issue are based on research presented at a Research Symposium hosted by the National Stuttering Association in conjunction with its annual meeting in July 2013 in Scottsdale, Arizona. The Symposium was organized and headed by Vivian Sisskin, who serves as Guest Editor for the issue. This Symposium, which offered additional presentations not reflected in this issue, was designed to provide both clinicians and individuals who stutter with the most up-to-date information available on the management of this highly complex, poorly understood, and frequently handicapping chronic communication disorder.

https://doi.org/10.1055/s-0034-1372691

Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works using Disease Ontology synonyms, 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.