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Our Researchers

Dr Elizabeth Scotchman

Clinical Scientist

Lizzie is a clinical scientist in the translational research team. She studied Natural Sciences, specialising in Genetics, at Cambridge University and then went on to do a PhD in Paul Nurse’s lab at the Cancer Research UK London Research Institute. She trained and worked as a clinical scientist at the Oxford University Hospitals NHS Foundation Trust before moving to Great Ormond Street Hospital in 2019. During her scientist training she achieved an MSc in Clinical Science (Clinical Genetics) from Nottingham University, during which she carried out a research project investigating the use of long-read sequencing using the Oxford Nanopore Technologies MinION for the characterisation of mitochondrial DNA rearrangements.

Lizzie’s main research focus is developing new non-invasive prenatal tests for single gene disorders, and currently she is investigating the use of long-read sequencing for prenatal genetic diagnosis. She has also been involved in setting up rapid prenatal exome sequencing as a clinical diagnostic service.

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Maureen Ramos

Genetic Technologist (MTO)

Maureen Ramos studied Biological Sciences with a Specialisation in Parasitology at King’s College London and Medical Molecular Biology at University of Westminster. She has worked in NHS for many years, starting at St. Thomas’ Hospital in 2004, moved on to North West Thames Genetics laboratory in Northwick Park Hospital and joined Great Ormond Street Hospital in 2018 where she works as a translational technologist with the Research teams.

Over the years of service she has developed experience and became knowledgeable in the use of several techniques and analysis tools utilised in the study of DNA and RNA in the diagnostic setting.

Being part of the translational team, has allowed her to be involved in the development of new and exciting technologies which will improve the NIPD service.

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Ben Paternoster

Translational Technologist/Pre-Registration Scientist

Ben Paternoster began working at Great Ormond Street Hospital initially as an Assistant Genetic Technologist. During this time, he assisted in the delivery of the 100K Genomes Project for the North Thames area. Following this, he moved into a Translational Technologist role, with the main focus being the optimisation and validation of digital droplet PCR for sickle cell testing. This is now being expanded to other rare disorders. Currently, his translational role is looking at long-read DNA sequencing technology using PacBio and Nanopore platforms. He is also working towards becoming a registered clinical scientist

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Our Researchers

Rhiannon Mellis

NIHR GOSH BRC Clinical Training Fellow

Rhiannon is a Clinical Training Fellow in Professor Lyn Chitty’s team at the NHS North Thames Genomic Laboratory Hub undertaking research for a PhD funded by the NIHR GOSH Biomedical Research Centre. The focus of her research is evaluating the implementation of rapid prenatal exome sequencing as a clinical diagnostic service within the English NHS.

Her project combines analysis of test outcomes, clinical pathway mapping and qualitative exploration of patient and professional perspectives to identify the benefits and challenges of implementing this new technology in a public healthcare system and the support needed for parents and health professionals. Rhiannon’s background is as a clinician in Paediatrics and after completing her doctoral studies she would like to train in Clinical Genetics.

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Jana Gurasashvili

Research Associate in Genomic Medicine

Jana has worked with the genetic research team at Great Ormond Street Hospital for several years.  Coming from a background in psychiatric nursing she went on to study first psychology and religious studies before gaining a masters in anthropology from University College, London.  She has developed her interest in genetics and genomics and was a recruiter to the 100,000 Genomes Project at GOSH.  Jana is near completion of the MSc in Genetic and Genomic Counselling, Cardiff and her present role is as a social scientist evaluating the return of additional findings to participants in the 100,000 Genomes Project.

“I think this is the most exciting time as genomics becomes part of mainstream NHS care and begins to transform healthcare and people’s lives for the better.  My interest is in how we navigate this new era of genomic medicine, how it will impact people emotionally and socially, and how we can use research to make people’s experience the best it can be.”

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Dr Melissa Hill

Senior Social Scientist & Research Genetic Counsellor

Dr Melissa Hill is a social scientist with a background in genetic counselling and health services research. She has a particular interest in facilitating best practice in the provision of genetic and genomic services. Her research centres on using both qualitative and quantitative approaches to investigate stakeholder views and experiences of new tests and therapies. She has contributed to a number of different research programmes focused on improving health care delivery and involving large multidisciplinary teams.

These projects include:

  • The NIHR funded RAPID (Reliable Accurate Prenatal non-Invasive Diagnosis) programme evaluated all aspects of implementing non-invasive testing and diagnosis into the NHS.
  • The Horizon 2020 funded BOOSTB4 (Boost Brittle Bones Before Birth) programme where she is leading the research exploring stakeholder views and experiences of stem cell therapy for osteogenesis imperfecta.
  • An NIHR RfPB funded study exploring the views and experiences of professionals and patients in the 100,000 Genomes Project.
  • The NIHR HS&DR funded Optimising EXome PREnatal Sequencing Services – EXPRESS study where we are evaluating the implementation of prenatal exome sequencing in the new NHS Genomic Medicine Service.
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Our Researchers

Dr Natalie Chandler

Clinical Scientist PhD FRCPath

Dr Natalie Chandler is a Senior Clinical Scientist at the Rare Disease laboratory in the North Thames Genomic Laboratory Hub (NTGLH). She joined the laboratory in 2015 having previously done a PhD at the University of Manchester followed by Clinical Scientist training at Nottingham and Guy’s Hospitals. In these previous roles she gained a lot of experience translating next generation sequencing technologies into Clinical Services.

Natalie manages the translational research team and prenatal exomes service in the NTGLH. Her primary interests are in providing and expanding prenatal clinical diagnostic services. This includes non-invasive prenatal diagnosis for single gene disorders and rapid exome testing on invasive samples.

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Dr Michelle Peter

Social Scientist

Dr Michelle Peter is an experienced researcher and has not long joined the North Thames Genomic team that is evaluating the implementation of the new fetal exome sequencing service (EXPRESS). Though her research background is in children’s early language development (she completed her PhD in Psychology at the University of Liverpool, and then went on to work on the largest-scale longitudinal study of children’s language development in the UK), she has always been interested in maternal and fetal care, having worked clinically in this setting prior to her career in research.  

Despite being new to the field of genomics, she has discovered a particular interest – understanding the barriers and facilitators to prenatal genetic testing for minority ethnic groups – and hopes that in her role as a Social Scientist, she will have the opportunity to further develop her knowledge about this area. 

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Our Researchers

Joseph Shaw

Clinical Scientist

Joseph Shaw is a clinical scientist in the translational non-invasive prenatal diagnostics (NIPD) team. Previously he studied Biomedical Sciences at Edinburgh University and worked in both research and diagnostic labs as a technician before completing his clinical scientist training in genetics at Great Ormond Street Hospital. During his training, he validated the laboratory’s test for myotonic dystrophy type 1 and achieved an MSc in Genomics from the University of Manchester.

His research focus is on developing new non-invasive prenatal tests for sickle cell disease and rare genetic conditions using droplet digital PCR. The aim of this work is to provide NIPD to patients that currently require invasive testing via placental biopsies or amniotic fluid sampling.

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Our Researchers

Kylie Montgomery

Clinical Scientist

Kylie Montgomery joined the Research team at GOSH in 2019. She has over ten years of experience in molecular genetics. She studied Biomedical Science at Victoria University of Wellington and has an MSc in Neuroscience from King’s College London.

She has contributed to the 100,000 Genomes Project and is currently investigating the use of long read sequencing for genetic diagnosis. The goal is to expand the types of disease causing variants we can test for in pregnancy with a high degree of accuracy.

Her research interests include methodology for non-invasive prenatal diagnosis and the genetics of neurodevelopmental and neurodegenerative disorders.