- Conduct targeted engineering of the human proteome a range of disease-relevant cell lines and models to interpret variant function in live cells at scale.
- Implement and optimize automated workflows for the creation of transgenic cell lines.
- Perform orthogonal validation experiments addressing the impact of PTM variants on protein function.
- Collaborate with the Biofoundry team to integrate experimental workflows and tools.
- Hold, or be near completion of, a Ph.D. in Clinical Genetics, Functional Clinical Genomics or a related discipline, or equivalent research, industrial or commercial experience
- Experience of clinical variant annotation in relation to clinical guidelines.
- Technical skills relating to cellular phenotyping of rare disease models.
- Advanced computational genomic analysis skills are advantageous.
- Excellent written and verbal communication skills.
- Ability to work collaboratively in a multidisciplinary research environment.
- Track record of scientific publications in peer-reviewed journals.
- Proven ability to independently drive research projects.
- Retain strong focus on interoperability throughout to ensure data outputs readily translate between the learning, prediction and analysis platforms that contribute to the broader cluster.
-
Technical Lead
1 day ago
Synnovis Analytics London, United KingdomDuties and Responsibilities The post holder will develop new tests to the point of service entry to include complete validation and verification according to ISO15189 standards. The new testing methods may include DNA extraction from a variety of sources, PCR based assays for mol ...
-
Bioinformatician
1 day ago
MultiOmic Health London, United Kingdom**About MultiOmic Health** · MultiOmic Health (MOH) is an AI-enabled drug discovery (AIDD) company dedicated to chronic multi-factorial diseases, with an initial focus on metabolic syndrome-related conditions. We partner with research institutions, healthcare providers and health ...
-
Genetic Technologist Band 4
3 days ago
Guy's and St Thomas' NHS Foundation Trust London, United KingdomApplicants should have good interpersonal and computing skills, be capable of working under pressure to tight deadlines, and be able to work collaboratively within a multidisciplinary team. They should have good organisational skills, be able to work methodically with great atten ...
-
Lead Bioinformatician
1 week ago
Genomics England London, United KingdomCompany Description · Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments - with patients and participants at the heart of it all. · Our mission is to continue re ...
-
Computational Geneticist
1 week ago
InstaDeep London, United KingdomFounded in 2014, InstaDeep is today an EMEA leader in decision-making AI products for the Enterprise, with headquarters in London, and offices in Paris, Berlin, Tunis, Lagos, Dubai, Cape Town, San Francisco, and Cambridge, MA. InstaDeep has been named among the Top 100 global AI ...
-
Imperial College London South Kensington, United Kingdom**The Imperial jobs site will be temporarily unavailable from 16.00pm Friday 23rd February to 12.00pm Wednesday 28th February as we move to a new Job site platform.** · **Applications started, not yet submitted by 16:00 23rd February will need to be started again on the new platf ...
-
Clinical Bioinformatician
1 week ago
University College London London, United Kingdom**Ref Number** · B · **Professional Expertise** · Research and Research Support · **Department** · School of Life & Medical Sciences (B02) · **Location** · London · **Working Pattern** · Full time · **Salary** · £48,614 - £57,041 · **Contract Type** · Permanent · **Working Type* ...
-
Lead Bioinformatician
1 week ago
Genomics England London, United KingdomCompany Description · Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments - with patients and participants at the heart of it all. · Our mission is to continue re ...
-
Research Associate in Clinical Variant
1 week ago
Imperial College London South Kensington, United Kingdom**The Imperial jobs site will be temporarily unavailable from 16.00pm Friday 23rd February to 12.00pm Wednesday 28th February as we move to a new Job site platform.** · **Applications started, not yet submitted by 16:00 23rd February will need to be started again on the new platf ...
-
24/LINI - Clinical Scientist
1 week ago
Randox Laboratories United KingdomClinical Scientist – NGS (24/LINI) · Randox Clinical Laboratory Services [Genomics Services Group] require an experienced Clinical Scientist to work with the existing team developing new NGS tests and reporting genomic test results. The person must be registered with HCPC [Health ...
-
22p-148 Research Assistant
4 days ago
Pirbright Pirbright, United Kingdom**Organisation position and purpose**: · SARS-CoV-2 has caused >6.5 million deaths, can establish long-term morbidity, and has devastated economies worldwide. The institute is involved in various collaborations monitoring the emergence of SARS-CoV-2 variants of concern, nationall ...
-
BBSTEM Ltd. United KingdomThe Imperial jobs site will be temporarily unavailable from 16.00pm Friday 23rd February to 12.00pm Wednesday 28th February as we move to a new Job site platform. · We will not be accepting applications or advertising vacancies during this period. · Applications started, not ye ...
-
Industrial em Product Designer
15 hours ago
AD Series Displays Manufacturing Ltd Tonbridge, United Kingdom** NO AGENCIES PLEASE** · **Industrial EM product Designer ** (full time role) · AD Series Displays Manufacturing Ltd is a technology business based in the UK and China. We manufacture commercial tablets and electronic PCB based solutions for customers worldwide, Predominantly in ...
-
Research Curator
5 days ago
Genomics England London, United KingdomGenomics England partners with the NHS to provide whole genome sequencing diagnostics. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. · We are accelerating our impact and working ...
-
Compensation Analyst
4 days ago
Genomics England London, United Kingdom Part timeGenomics England partners with the NHS to provide whole genome sequencing diagnostics. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. · We are accelerating our impact and working ...
-
Scientific Curator
2 days ago
Genomics England Limited London, United KingdomGenomics Englandpartners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. · Our mission is to continue refining, scaling, and e ...
-
Research Scientist
1 week ago
Earlham Institute United KingdomYou will need to download, save and complete a copy of the application form using Microsoft Word or preparea copy of your CV that contains all the information requested in the application form. · Applications are invited for a Postdoctoral Research Scientist to join the Research ...
-
Genomics England Limited London, United Kingdom Full timeGenomics Englandpartners with the NHS to provide whole genome sequencing diagnostics. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. · We areaccelerating our impactand working wi ...
-
Research Curator
2 days ago
Genomics England Limited London, United KingdomGenomics Englandpartners with the NHS to provide whole genome sequencing diagnostics. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. · We areaccelerating our impactand working wi ...
-
Genomics England London, United Kingdom Full timeGenomics England partners with the NHS to provide whole genome sequencing diagnostics. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. · We are accelerating our impact and working ...
Research Associate in Clinical Variant Interpretation - United Kingdom - BBSTEM Ltd.
Description
The Imperial jobs site will be temporarily unavailable from 16.00pm Friday 23rd February to 12.00pm Wednesday 28th February as we move to a new Job site platform.
We will not be accepting applications or advertising vacancies during this period.
Applications started, not yet submitted by 16:00 23rd February will need to be started again on the new platform.
For further information and how to submit an application or set up job alerts again please visit our FAQs for new job site platform transition
We are seeking highly motivated and skilled Research Associate to join our dynamic team working on a cross-disciplinary functional genomics project in collaboration with Imperial College, Queen Mary University of London (QMUL), and EMBL-European Bioinformatics Institute (EBI). Our collaborative human functional genomics cluster aims to advance our understanding of the genetic basis of rare diseases and end the diagnostic odyssey for individuals suffering from these diseases.
Project Overview
Rare diseases affect approximately 6-8% of the population in Western societies, and advances in genomics have revealed the complex relationship between genetic variation and disease susceptibility. The project focuses on missense variants, particularly those impacting post-translational modification (PTM) sites on proteins, to bridge the knowledge gap between genomic associations and disease mechanisms. Our vision is to mechanistically define the functional impact of PTM variants within the rare disease cohort of Genomics England's genome resource, leading to personalized interventions and optimized clinical outcomes.
This exciting research project will integrate cutting-edge experimental capabilities across DNA synthesis, DNA assembly, automated molecular biology workflows and cell culture, next generation sequencing, state-of-the-art imaging and mass spectrometry platforms at the Child lab , London Biofoundry and Agilent Measurement Suite .
This position will be funded as part of an MRC Human Functional Genomics cluster led by Dr Matthew Child. Successful candidates will be part of a talented multidisciplinary team of researchers based at Imperial College London, Queen Mary University of London (QMUL), and EMBL-European Bioinformatics Institute (EBI), fostering an environment of collaboration and scientific excellence. This will also provide extensive opportunities for collaboration and networking with the other three MRC-funded Human Functional Genomics clusters, and individual leadership development.
Duties and responsibilities
Based at Imperial College's South Kensington Campus, you will work within Dr. Child's team and will:
This is a full time, fixed term position for two years with possibility of extension. You will be based at south Kensington Campus, with travel to White City Campus as required.
Candidates who have not yet been officially awarded their PhD will be appointed as a Research Assistant.
The College believes that the use of animals in research is vital to improve human and animal health and welfare. Animals may only be used in research programmes where their use is shown to be necessary for developing new treatments and making medical advances. Imperial is committed to ensuring that, in cases where this research is deemed essential, all animals in the College's care are treated with full respect, and that all staff involved with this work show due consideration at every level. /
Privacy Policy / BBSTEM Limited | Registered in England and Wales | Company No:
#J-18808-Ljbffr
Research Associate in Clinical Variant Interpretation professionals in London
-
Alejandra Lozano
Psychology undergraduate
-
Emma Dimech
Holistic Health and Wellbeing Coach
-
Glory Victor
Receptionist Manager, Administrator, EA
-
Freideriki-Maria Dadani
Biomedical Scientist
-
Immaad Mir
Bioinformatician| Entrepreneur | Aspiring VC
-
Bahasht Al-Haydari
Teaching Assistant/ Localisation Coordinator