William G. Newman
YOU?
Author Swipe
View article: Pharmacogenomics to Improve Supportive Care Symptoms. A Prospective Observational Study Protocol
Pharmacogenomics to Improve Supportive Care Symptoms. A Prospective Observational Study Protocol Open
Background People living with terminal or life limiting conditions such as incurable cancer often have problems with pain, vomiting and other symptoms which impact quality of life. Supportive and Palliative Care aims to improve the symptom…
View article: Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women
Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women Open
Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contribute largely independent information, but it is unclear how the overlap varies by ancestry, age, disease typ…
View article: Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer Open
View article: Undiagnosed G6PD Deficiency in Black and Asian Individuals Is Prevalent and Contributes to Health Inequalities in Type 2 Diabetes Diagnosis and Complications
Undiagnosed G6PD Deficiency in Black and Asian Individuals Is Prevalent and Contributes to Health Inequalities in Type 2 Diabetes Diagnosis and Complications Open
OBJECTIVE Glucose-6-phosphate dehydrogenase (G6PD) deficiency presents silently and is not routinely screened. It is associated with markedly lower HbA1c for the prevailing glucose levels. Since HbA1c is internationally recommended to diag…
View article: XBP1 expression in pancreatic islet cells is associated with poor glycaemic control especially in young non-obese onset diabetes across ancestries
XBP1 expression in pancreatic islet cells is associated with poor glycaemic control especially in young non-obese onset diabetes across ancestries Open
Background Individuals of South and East Asian ancestry have a higher risk of type 2 diabetes, often driven by insulin deficiency due to impaired beta-cell function. The transcription factor XBP1 supports beta-cell survival by reducing cel…
View article: Self-reported pharmacogenetic medication use in the <i>Our Future Health</i> cohort
Self-reported pharmacogenetic medication use in the <i>Our Future Health</i> cohort Open
Aim To describe self-reported use of medications with pharmacogenetic guidance in the Our Future Health (OFH) cohort. Methods We focused on four key pharmacogenes— CYP2C19, CYP2C9, CYP2D6 , and SLCO1B1 —and associated medications supported…
View article: Deletion of <i>CH25H</i> and <i>LIPA</i> Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7α,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant<sup>‡</sup>
Deletion of <i>CH25H</i> and <i>LIPA</i> Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7α,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant<sup>‡</sup> Open
The CH25H ( cholesterol 25-hyroxylase ) and LIPA ( lipase A, lysosomal acid type ) genes are contiguous genes on chromosome 10. CH25H is translated to cholesterol 25-hydroxylase which generates 25- hydroxycholesterol (25-HC) from cholester…
View article: Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series Open
National Institute for Health and Care Research, LifeArc, and Wellcome Trust.
View article: Pharmacogenomics in the UK National Health Service: Progress towards implementation
Pharmacogenomics in the UK National Health Service: Progress towards implementation Open
Over the past decade there has been considerable and growing enthusiasm about the promise of using genomics to inform healthcare. In particular, using genetic data to inform prescribing practice has emerged as a compelling policy priority …
View article: Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes Open
Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic …
View article: Protocol for an observational study to assess the impact of pharmacogenetics on outcomes in vascular surgery (PROSPER)
Protocol for an observational study to assess the impact of pharmacogenetics on outcomes in vascular surgery (PROSPER) Open
Introduction Patients with chronic limb-threatening ischaemia (CLTI) are often prescribed clopidogrel in order to reduce their risk of major adverse limb and cardiovascular events. Clopidogrel is metabolised by the CYP2C19 enzyme and genet…
View article: Implementation of mass pharmacogenetic testing<i>: Dihydropyrimidine dehydrogenase</i> testing prior to fluoropyrimidine treatment for patients
Implementation of mass pharmacogenetic testing<i>: Dihydropyrimidine dehydrogenase</i> testing prior to fluoropyrimidine treatment for patients Open
Aims Pharmacogenomics enables personalization of drug therapy improving effectiveness and/or safety. Dihydropyrimidine dehydrogenase [DPYD] testing prior to fluoropyrimidine chemotherapy was commissioned by NHS England in response to an up…
View article: Designing an interoperable solution to support pharmacogenomic-guided prescribing in primary care: an implementer report
Designing an interoperable solution to support pharmacogenomic-guided prescribing in primary care: an implementer report Open
Study objectives Describe the implementation of an interoperable solution to support pharmacogenomic-guided prescribing in primary care in the National Health Service, England. Methods We used an iterative approach to software development …
View article: Perceived risk of type 2 diabetes: Using linked genomic, clinical and questionnaire data to understand the potential use of genetic risk tools in British South Asians
Perceived risk of type 2 diabetes: Using linked genomic, clinical and questionnaire data to understand the potential use of genetic risk tools in British South Asians Open
Despite growing interest surrounding the integration of genetic risk tools such as polygenic risk scores (PRSs) into routine care for early disease identification and management, major questions remain about whether and how these tools are…
View article: Imágenes
Imágenes Open
Imágenes que ilustran las secciones The Red Book, de Carl G. Jung© 2009 Foundation of the Works of C.G. Jung, Zürich. First published by W. W. Norton & Co.
View article: Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation
Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation Open
Background Rare early-onset lower urinary tract (REOLUT) disorders affect the ureter, urinary bladder, or urethra and manifest before birth or in childhood. Monogenic causes have been reported in a subset of such individuals. Objectives A …
View article: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
View article: Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries
Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries Open
Background Breast cancer is multifactorial. Focusing on limited risk factors may miss high-risk individuals. Methods We assessed the performance and overlap of various risk factors in identifying high-risk individuals for invasive breast c…
View article: Rare disease gene association discovery in the 100,000 GenomesProject
Rare disease gene association discovery in the 100,000 GenomesProject Open
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet to be discovered disease–gene associations. To search for such associations, we developed a rare var…
View article: A United Kingdom nationally representative survey of public attitudes towards pharmacogenomics
A United Kingdom nationally representative survey of public attitudes towards pharmacogenomics Open
Background Variation in DNA is known to contribute to medication response, impacting both medicine effectiveness and incidence of adverse drug reactions (ADRs). However, clinical implementation of pharmacogenomics (PGx) has been slow, and …
View article: Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores
Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores Open
Correct classification of type 1 (T1D) and type 2 diabetes (T2D) is challenging due to overlapping clinical features and the increasingly early onset of T2D, particularly in South Asians. Polygenic risk scores (PRSs) for T1D and T2D have b…
View article: Overlap of High-Risk Individuals Predicted by Family History, Genetic and Non-Genetic Breast Cancer Risk Prediction Models: An Analysis of 180,398 Women Across European and Asian Ancestry Populations
Overlap of High-Risk Individuals Predicted by Family History, Genetic and Non-Genetic Breast Cancer Risk Prediction Models: An Analysis of 180,398 Women Across European and Asian Ancestry Populations Open
View article: Genetic Risk of Axonal Neuropathy Following Infection
Genetic Risk of Axonal Neuropathy Following Infection Open
View article: P254: Genetics of Perrault syndrome in a family with ten affected individuals
P254: Genetics of Perrault syndrome in a family with ten affected individuals Open
View article: Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform
Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform Open
View article: Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype Open
View article: Enabling precision medicine through open standards in pharmacogenetics: data model development and Delphi study (Preprint)
Enabling precision medicine through open standards in pharmacogenetics: data model development and Delphi study (Preprint) Open
BACKGROUND Pharmacogenetics, a subset of precision medicine, leverages genetic testing to improve the safety and efficacy of prescribed medicines. Despite compelling evidence supporting its clinical and economic impact, widespread impleme…
View article: Genetic basis of early onset and progression of type 2 diabetes in South Asians
Genetic basis of early onset and progression of type 2 diabetes in South Asians Open
South Asians develop type 2 diabetes (T2D) early in life and often with normal body mass index (BMI). However, reasons for this are poorly understood because genetic research is largely focused on European ancestry groups. We used recently…
View article: A national survey of first line antibiotic use in neonatal units – and the potential scope for iatrogenic sensorineural hearing loss prevention
A national survey of first line antibiotic use in neonatal units – and the potential scope for iatrogenic sensorineural hearing loss prevention Open
Objective National Institute for Clinical Excellence (NICE) guidance for the management of neonatal sepsis recommends a first-line antibiotic regimen containing an aminoglycoside (gentamicin). Aminoglycoside exposure causes sensorineural h…
View article: Considerations for drug trials in hypertrophic cardiomyopathy
Considerations for drug trials in hypertrophic cardiomyopathy Open
Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden car…