جِین(Gene): A Co-Designed Smartphone App for Genetics Education and Empowerment in the Pakistani Community.

In the Pakistani/British Pakistani community in England it is quite common for people to marry close cousin relatives, which can increase the chances of certain genetic problems in their children. Families in these situations often have little knowledge of genetics and encounter difficulties accessing genetic counselling services and culturally appropriate genetics information is needed to support these families. We describe the co-design of a prototype culturally sensitive smart phone app with the British Pakistani community, to improve understanding of genetics and genetic services.

Characterising meaningful patient and public involvement in the pharmaceutical industry research setting: a retrospective quality assessment.

Objectives: Patient and public involvement (PPI) in clinical research has a well-established infrastructure in the UK, and while there has been good progress within pharmaceutical-industry-sponsored research, further improvements are still needed. This review aims to share learnings from quality assessments of historical PPI projects within Pfizer UK to inform future projects and drive PPI progress in the pharmaceutical industry.

Design And Setting: Internal assessments of Pfizer UK PPI projects were conducted to identify all relevant projects across the medicines development continuum between 2017 and 2021.

Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review.

Background: Patient-facing digital technologies may reduce barriers to and alleviate the burden on genetics services. However, no work has synthesised the evidence for patient-facing digital interventions for genomics/genetics education and empowerment, or to facilitate service engagement more broadly. It is also unclear which groups have been engaged by digital interventions.

Challenging stigma and attitudes towards ECT via an educational video.

While electroconvulsive therapy (ECT) is an effective therapeutic modality for the treatment of mental illness, negative attitudes and stigma exist about ECT in the general community and even within health services. Investigating interventions that improve the attitudes of health professionals towards ECT is beneficial as this reduces stigma and increases the acceptability of ECT for consumers. The primary aim of this study was to evaluate the change in attitude of nursing graduates and medical students towards ECT by watching an educational video.

Estimating uncertainty for the instrument transfer function measurement of 3D scanners.

Spatial resolution is an important aspect of many optical instruments. It is defined as the ability of surface-topography measuring instruments to distinguish closely spaced surface features. Following convention, spatial resolution can be defined as the spatial frequency response of the instrument, known as the instrument transfer function (ITF).

Applying Co-Design Principles for the Development of Health Education and Workforce Development.

The digital transformation of the UK's healthcare system necessitates the development of digital capabilities across the workforce. This ranges from basic digital literacy through to advanced skills with data and analytic methods. We present two projects that apply co-design to work with end-users and other stakeholders to produce a digital healthcare technologies capability framework aimed at the wider NHS workforce and a post graduate Clinical Data Science course aimed at bridging the gap between clinicians and the data-centric professions (e.

Co-clinical Modeling of the Activity of the BET Inhibitor Mivebresib (ABBV-075) in AML.

Background/aim: The therapeutic potential of bromodomain and extra-terminal motif (BET) inhibitors in hematological cancers has been well established in preclinical and early-stage clinical trials, although as of yet, no BETtargeting agent has achieved approval. To add insight into potential response to mivebresib (ABBV-075), a broadspectrum BET inhibitor, co-clinical modeling of individual patient biopsies was conducted in the context of a Phase I trial in acute myeloid leukemia (AML).

Materials And Methods: Co-clinical modeling involves taking the patient's biopsy and implanting it in mice with limited passage so that it closely retains the original characteristics of the malignancy and allows comparisons of response between animal model and clinical data.

Educating the Healthcare Workforce to Support Digital Transformation.

Digital transformation of the healthcare workforce is a priority if we are to leverage the potential of digital technologies, artificial intelligence in clinical decision support and the potential of data captured within electronic health records. Educational programmes need to be diverse and support the digital novices through to the champions whom will be responsible for procuring and implementing digital solutions. In order to professionalise the workforce in this area, digital competencies need to be built into training from early on and be underpinned by frameworks that help to guide regulators and professional bodies and support educational providers to deliver them.

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality.

Close relative (consanguineous) marriage is widely practised globally, and it increases the risk of genetic disorders. Mobile apps may increase awareness and education regarding the associated risks in a sensitive, engaging, and accessible manner. This systematic review of patient-facing genetic/genomic mobile apps explores content, function, and quality.

Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.

Purpose: This study aimed to investigate whether a bioinformatics application can streamline genome reanalysis and yield new diagnoses for patients with rare diseases.

Methods: We developed TierUp to identify variants in new disease genes for unresolved rare disease cases recruited to the 100,000 Genomes Project, all of whom underwent genome sequencing. TierUp uses the NHS Genomic Medicine Service bioinformatics infrastructure by securely accessing case details from the Clinical Interpretation Portal application programming interface and by querying the curated PanelApp database for novel gene-disease associations.

A Blockchain-Based Dynamic Consent Architecture to Support Clinical Genomic Data Sharing (ConsentChain): Proof-of-Concept Study.

Background: In clinical genomics, sharing of rare genetic disease information between genetic databases and laboratories is essential to determine the pathogenic significance of variants to enable the diagnosis of rare genetic diseases. Significant concerns regarding data governance and security have reduced this sharing in practice. Blockchain could provide a secure method for sharing genomic data between involved parties and thus help overcome some of these issues.

Problem-based learning in clinical bioinformatics education: Does it help to create communities of practice?

We have now reached the genomics era within medicine; genomics is being used to personalise treatment, make diagnoses, prognoses, and predict adverse outcomes resulting from treatment with certain drugs. Genomic data is now abundant in healthcare, and the newly created profession of clinical bioinformaticians are responsible for its analysis. In the United Kingdom, clinical bioinformaticians are trained within a 3-year programme, integrating a work-based placement with a part-time Master's degree.

Preclinical rationale for entinostat in embryonal rhabdomyosarcoma.

Background: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in the pediatric cancer population. Survival among metastatic RMS patients has remained dismal yet unimproved for years. We previously identified the class I-specific histone deacetylase inhibitor, entinostat (ENT), as a pharmacological agent that transcriptionally suppresses the PAX3:FOXO1 tumor-initiating fusion gene found in alveolar rhabdomyosarcoma (aRMS), and we further investigated the mechanism by which ENT suppresses PAX3:FOXO1 oncogene and demonstrated the preclinical efficacy of ENT in RMS orthotopic allograft and patient-derived xenograft (PDX) models.

The HDAC3-SMARCA4-miR-27a axis promotes expression of the fusion oncogene in rhabdomyosarcoma.

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood with an unmet clinical need for decades. A single oncogenic fusion gene is associated with treatment resistance and a 40 to 45% decrease in overall survival. We previously showed that expression of this fusion oncogene in alveolar RMS (aRMS) mediates tolerance to chemotherapy and radiotherapy and that the class I-specific histone deacetylase (HDAC) inhibitor entinostat reduces PAX3:FOXO1 protein abundance.

A multi-modal relative spatial access assessment approach to measure spatial accessibility to primary care providers.

Two-step floating catchment area (2SFCA) methods that account for multiple transportation modes provide more realistic accessibility representation than single-mode methods. However, the use of the impedance coefficient in an impedance function (e.g.

Validity of the instrument transfer function for fringe projection metrology.

When fringe projection profilometry is used for measuring texture on rough surfaces, the measurement resolution is subject to the spatial frequency response of the instrument. The instrument transfer function (ITF) is a good metric to quantify this property. A valid ITF analysis requires the system to be linear.

A global perspective on evolving bioinformatics and data science training needs.

Bioinformatics is now intrinsic to life science research, but the past decade has witnessed a continuing deficiency in this essential expertise. Basic data stewardship is still taught relatively rarely in life science education programmes, creating a chasm between theory and practice, and fuelling demand for bioinformatics training across all educational levels and career roles. Concerned by this, surveys have been conducted in recent years to monitor bioinformatics and computational training needs worldwide.