A5022636543- Protein Degradation and Inhibitors
- Multiple Myeloma Research and Treatments
- Peptidase Inhibition and Analysis
- Mindfulness and Compassion Interventions
- Family and Disability Support Research
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Retinal Development and Disorders
- Child and Adolescent Psychosocial and Emotional Development
- CRISPR and Genetic Engineering
- Pharmaceutical Practices and Patient Outcomes
- Genomic variations and chromosomal abnormalities
- Telomeres, Telomerase, and Senescence
- Retinal Diseases and Treatments
- Chromosomal and Genetic Variations
- Malaria Research and Control
- Genetics and Neurodevelopmental Disorders
- Behavioral and Psychological Studies
- Mitochondrial Function and Pathology
- Criminal Justice and Corrections Analysis
- Patient Safety and Medication Errors
- Personality Disorders and Psychopathology
- Child Abuse and Trauma
- Genetics, Aging, and Longevity in Model Organisms
- T-cell and B-cell Immunology
Washington University in St. Louis
2024
Churchill Hospital
2015-2023
University of Oxford
2010-2023
University of Calgary
2023
Cheshire West and Chester
2022-2023
Cheshire and Wirral Partnership NHS Foundation Trust
2022-2023
Oxford University Hospitals NHS Trust
2016-2022
Royal Brompton & Harefield NHS Foundation Trust
2021
MRC London Institute of Medical Sciences
2021
Imperial College London
2021
Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients cerebral and there little proven evidence of genetic causes. As part large project investigating children ataxia, we identified four our cohort diagnosis ataxic palsy. They were investigated using either targeted next generation sequencing or trio-based exome found have mutations three different genes, KCNC3,...
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis plausible disease-causing 10/10 additional GS-affected individuals. These ultra-rare protein-altering variants affected only residues...
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, recurrence risk 1-2% is frequently quoted due to possibility parental germline mosaicism; but for any specific couple, this figure usually incorrect. We present systematic approach providing individualized risk. By combining locus-specific sequencing multiple tissues detect occult mosaicism with long-read determine parent-of-origin we show that can stratify majority couples into one seven discrete...
This study utilized a mixed methods approach to examine the feasibility and acceptability of group compassion focused therapy for adults with intellectual disabilities (CFT-ID). Six participants mild ID participated in six sessions CFT, specifically adapted ID. Session-by-session measures suggested that understood content process experienced experiential practices as helpful enjoyable. Thematic analysis focus groups identified three themes relating (1) direct experiences group, (2) initial...
Introduction Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based panels a targeted strategy further testing protocols, if initial results are negative. We present the molecular findings of Oxford phenotype-based NGS genetic in IRD.Methods Results 655 consecutive referred over 54 months were analysed to assess diagnostic yield.Results...
Human telomeres shorten during each cell division, predominantly because of incomplete DNA replication. This eventually results in short uncapped that elicit a DNA-damage response, leading to cellular senescence. However, evasion senescence continued division and telomere erosion ultimately genome instability. In the long term, this instability is not sustainable, cancer cells activate TMM (telomere maintenance mechanism), either expression telomerase or activation ALT (alternative...
Abstract Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP 3 ) receptor type 1 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants cause congenital spinocerebellar ataxia 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. pathophysiological basis of different phenotypes is poorly understood. Objectives We aimed to identify novel SCA29 GLSP cases define core phenotypes, describe spectrum...
Concerns have been raised about possible health effects from radiofrequency fields pulsing at around 16 Hz. A radio system used by UK police (TETRA) employs signals which pulse 17.6 We tested whether exposure to a continuous wave signal 385.25 MHz or TETRA-like resulted in symptoms among users reporting sensitivity TETRA compared not TETRA.60 sensitive and 60 non-sensitive were exposed three 50 min conditions: with Hz component, condition sham condition. The mean radiated power for the...
Purpose – The purpose of this paper is to understand the experiences acquired brain injury (ABI) family caregivers who attended an acceptance based group intervention. Design/methodology/approach A qualitative design and interpretative phenomenological analysis methodology were used. Findings Five key themes identified: increasing personal awareness; dialectic emotional vs avoidance; integration commitment therapy (ACT) principles; peer support; moving forward after group. It seemed that...
<h3>Importance</h3> Gene therapy is a promising treatment for choroideremia, an X-linked retinal degeneration. The required minimum level of gene expression to ameliorate degeneration rate unknown. This can be interrogated by exploring the association between messenger RNA (mRNA) levels and phenotype in mildly affected patients with choroideremia. <h3>Objective</h3> To analyze<i>CHM</i>mRNA splicing outcomes 2 unrelated same c.940+3delA<i>CHM</i>splice site variant identified as from...
Abstract Purpose: We designed a comprehensive multiple myeloma targeted sequencing panel to identify common genomic abnormalities in single assay and validated it against known standards. Experimental Design: The comprised 228 genes/exons for mutations, 6 regions translocations, 56 copy number (CNA). Toward validation, was conducted on 233 patient samples further using clinical FISH (translocations), multiplex ligation probe analysis (MLPA; CNAs), whole-genome (WGS; CNAs, translocations), or...
Mindfulness-based programs have been delivered to people with intellectual disabilities (ID) and aggressive behaviour some success. The current study is part of a wider feasibility study, which aimed test the adaptation Soles Feet (SoF) meditation practice six-session, one-to-one intervention within UK National Health Service. It was designed for adults ID help reduce their behaviour. Eighteen stakeholders were interviewed from three groups: (1) who took in intervention, (2) supporters, (3)...
The homology, recombination, variation, and repetitive elements in the natural killer-cell immunoglobulin-like receptor (KIR) region has made full haplotype DNA interpretation impossible a high-throughput workflow. Here, we present new approach using long-read sequencing to efficiently capture, sequence, assemble diploid human KIR haplotypes. Probes were designed capture fragments by leveraging repeating homology of region. IDT xGen® Lockdown probes used 2-8 kb sheared followed on PacBio...
Approximately 10-20 % of adults with intellectual disabilities engage in challenging behaviours such as aggression, destructiveness, and self-injury, which are often accompanied by feelings anger. The inability to manage anger can reduce quality life. For example, aggression is a strong predictor out-of-area placements risk variable for abuse. Recent research suggests that mindfulness-based therapies (specifically, Singh's Soles the Feet meditation) help people angry emotions, resultant...
The structure and implementation of an advanced pharmacy practice experience (APPE) that was sequential in nature are described.In early 2008, the department Cleveland Clinic began conversations with three partner schools surrounding area to accommodate rotations for experiences students. resulting APPE (SAE) program is offered at each school four or five months incorporates a longitudinal student project component be completed over SAE's duration. Program coordination scheduling unique this...
Pharmacy workflow efficiencies achieved through the use of an electronic medication-tracking system are described. Medication dispensing turnaround times at inpatient pharmacy a large hospital were evaluated before and after transition from manual medication tracking to Web-based process involving sequential bar-code scanning real-time monitoring status. The was carried out in three phases: (1) analysis, including identification optimal points for with hand-held wireless devices, (2) phased...
Abstract Objectives Mindfulness-based programs (MBPs) such as the ‘Soles of Feet’ (SoF) meditation have been shown to be effective for reducing aggressive behavior in people with intellectual disabilities (ID). Research on SoF has promising results USA but there is an absence evidence approach United Kingdom (UK). The aim this research was adapt UK and assess feasibility cost implementing intervention a healthcare setting (UK SoF). Methods consisted manualized protocol delivered over...