Rachel Harrison
A5102017338- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Attention Deficit Hyperactivity Disorder
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Ubiquitin and proteasome pathways
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Endoplasmic Reticulum Stress and Disease
- Bipolar Disorder and Treatment
- Genomics and Chromatin Dynamics
- Congenital Anomalies and Fetal Surgery
- Urological Disorders and Treatments
- Prenatal Screening and Diagnostics
- Neonatal Respiratory Health Research
- Renal and related cancers
- Psychology of Development and Education
- Sarcoma Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Family and Disability Support Research
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Genetic Associations and Epidemiology
- Pituitary Gland Disorders and Treatments
Nottingham University Hospitals NHS Trust
2014-2024
Nottingham City Hospital
2023-2024
Wellcome Sanger Institute
2005-2023
Oxford Brookes University
2019
Princess Anne Hospital
2017
National Health Service
2011-2013
University of Canterbury
2010-2011
Sustainable Home Survey (United Kingdom)
1995
P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.The objective of the study was to establish large PORD cohort.The design clinical, biochemical, genetic assessment including multiplex ligation-dependent probe amplification (MLPA) 30 from 11 countries.We...
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result a phenotypic spectrum includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine incidence defects, we analysed exome data from 4293 parent-child trios recruited Deciphering Developmental Disorders (DDD) study. All probands had neurodevelopmental...
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation proteins 26 S proteasomes. Here, we identified 15 de novo missense variants PSMC3 gene encoding subunit PSMC3/Rpt5 23 unrelated heterozygous patients an autosomal dominant form neurodevelopmental delay intellectual disability....
Abstract The protein kinase gene family is the most frequently mutated in human cancer. Previous work has documented activating mutations KIT receptor tyrosine testicular germ‐cell tumors (TGCT). To investigate further potential role of kinases development TGCT and to characterize prevalence patterns point these tumors, we have sequenced coding exons splice junctions annotated 518 genes a series seven seminomas six nonseminomas. Our results show remarkably low mutation frequency, with only...
Mutations in the electron donor enzyme P450 oxidoreductase (POR) result congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed deficiency (PORD). Major clinical features present PORD are disordered sex development affected individuals of both sexes, glucocorticoid deficiency, multiple skeletal malformations. The objective study was to establish a noninvasive approach prenatal diagnosis including assessment malformation...
Bohring–Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of wrists metacarpophalangeal joints), intellectual disability, feeding issues. Nine patients have been identified as having mutation in ASXL1 . We report on eight previously unpublished caused an apparent or confirmed de novo Of note, two developed...
Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to determine the effect of genomics, inheritance, socioeconomic deprivation on risk in children genetic origin compared general population.
ABSTRACT Bipolar disorder with co-occurring attention-deficit/hyperactivity (ADHD) is a challenge to treat. Ten previous reports have shown potential benefit of micronutrient treatment (consisting mainly vitamins and minerals) for various psychiatric symptoms, including mood ADHD. This case study aimed investigate the longer term impact micronutrients on both neurocognitive functioning in an off-on-off-on (ABAB) design 1 year follow-up. A 21-year-old female bipolar II disorder, ADHD, social...
This study describes patients presenting for CranioSacral treatment, the conditions they present with, and impact of treatment on both their symptoms lives.The records 157 treated with Upledger Therapy (UCST) were reviewed. Seventy-three (73) had been by 10 different practitioners working independently 84 a single practitioner within National Health Service.Patients' ages ranged from neonates to 68 years. Seventy-four percent (74%) reported valuable improvement in problem. Sixty-seven (67%)...
Abstract The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in gene. In this international collaborative study, we have undertaken detailed molecular analysis 45 previously unpublished individuals with as well review all published individuals. We reviewed rather limited functional characterization pathogenic discuss current understanding consequences different variants. comprehensive define...
Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits identified approximately 25% of cases. However, clinical genetic information patients with SDHC variants underreported.This retrospective case series collated data from 18 UK Genetics Endocrinology departments.Both asymptomatic disease-affected confirmed germline included.Clinical including tumour type location, surveillance outcomes interventions, variant...
Little research has investigated how micronutrients (minerals and vitamins) affect cognitive functioning, despite preliminary studies showing they may improve psychiatric functioning.This pilot study the impact of a 36-ingredient micronutrient formula consisting mainly vitamins minerals on neurocognitive functioning in 14 adults with attention-deficit/hyperactivity disorder (ADHD) severe mood dysregulation.The was consumed an open-label trial over 8-week period.The participants completed...
Abstract Background Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis surveillance. However, there limited information on “real world” management VHL disease. Methods A national audit in United Kingdom. Results was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over study period, 19 genetic centres saw 842...
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...
Congenital diaphragmatic hernia (CDH) can occur in isolation or conjunction with other birth defects (CDH+). A molecular etiology only be identified a subset of CDH cases. This is due, part, to an incomplete understanding the genes that contribute diaphragm development. Here, we used clinical and data from 36 individuals CDH+ who are cataloged DECIPHER database identify may play role development discover new phenotypic expansions. Among this group, carried putatively deleterious sequence...
Additional supporting information may be found in the online version of this article at publisher's web-site. Please note: The publisher is not responsible for content or functionality any supplied by authors. Any queries (other than missing content) should directed to corresponding author article.
Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals monoallelic stop loss variants affecting the same codon of HNRNPA1.
We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Individuals in study who had pathogenic/likely pathogenic genotype DECIPHER database were selected inclusion (n = 5010). Clinical notes regional genetics services reviewed assess predefined relating interventions, prenatal choices, and information provision. Outcomes recorded 4237 diagnosed probands (85% of those eligible) all 24 recruiting centers across...
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, which four characterized by whole-genome sequencing and two chromosomal microarray. Based on the severity associated intellectual disability (ID), we identify three categories ERF-associated deletions. The...