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All Outputs (9)

Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey (2023)
Journal Article
Rohani-Montez, S. C., Bomberger, J., Zhang, C., Cohen, J., McKay, L., & Evans, W. R. (2023). Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open, 1(1), Article 100808. https://doi.org/10.1016/j.gimo.2023.100808

Purpose Recognizing rare diseases (RDs) and initiating appropriate investigation and referral is critical for timely diagnosis. Unfortunately, patients with RDs experience significant diagnostic delays, potentially... Read More about Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey.

Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model (2022)
Journal Article
Evans, W., Akyea, R. K., Weng, S., Kai, J., & Qureshi, N. (2022). Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model. Journal of Personalized Medicine, 12(8), Article 1290. https://doi.org/10.3390/jpm12081290

Bicuspid aortic valve disease (BAV) is the most common congenital heart condition, and early detection can improve outcomes for patients. In this case–control study, patients with a diagnosis of BAV were identified from their electronic primary-care... Read More about Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model.

Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease (2022)
Journal Article
Hampson, C., Evans, W., McKay, L., & Menzies, L. (2022). Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease. EMJ Innovations, https://doi.org/10.33590/emj/21-00181

Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘the... Read More about Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease.

Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study (2022)
Journal Article
Buendia, O., Shankar, S., Mahon, H., Toal, C., Menzies, L., Ravichandran, P., …Evans, W. (2022). Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study. Orphanet Journal of Rare Diseases, 17, Article 54. https://doi.org/10.1186/s13023-022-02216-w

Introduction: This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rar... Read More about Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study.

International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study (2021)
Journal Article
Evans, W., Patterson, M., Platt, F., Guldberg, C., Mathieson, T., Pacey, J., & the Core Working Group for the Delphi Study. (2021). International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study. Orphanet Journal of Rare Diseases, 16(1), Article 482. https://doi.org/10.1186/s13023-021-02115-6

Background: Several scales have been developed in the past two decades to evaluate Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in each setting is preventing the... Read More about International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study.

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia (2021)
Journal Article
Fields, T., Patterson, M., Bremova-Ertl, T., Belcher, G., Billington, I., Churchill, G. C., …Strupp, M. (2021). A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials, 22, Article 84. https://doi.org/10.1186/s13063-020-05009-3

Background: The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development... Read More about A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.

Identifying, managing and supporting patients with a rare disease (2020)
Journal Article
Evans, W., McKay, L., & Qureshi, N. (2021). Identifying, managing and supporting patients with a rare disease. InnovAiT, 14(2), 92-99. https://doi.org/10.1177/1755738020974411

Rare diseases (RDs) are defined as diseases that affect less than 1 in 2000 people, 71.9% are genetic and 69.9% have symptom onset in childhood. There are an estimated 8000 rare diseases, and although individually rare, collectively they are common,... Read More about Identifying, managing and supporting patients with a rare disease.

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners (2020)
Journal Article
R. H. Evans, W., Tranter, J., Rafi, I., Hayward, J., & Qureshi, N. (2020). How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. Journal of Community Genetics, 11(3), 377–386. https://doi.org/10.1007/s12687-020-00457-5

Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realise their potential, education of primary healthcare practitioners will be required. To enable the development of suc... Read More about How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners.