Job summary
Provide consultant-level input into the assessment, diagnosis, and management of patients with rare disorders , particularly suspected or confirmed mitochondrial disorders.
Work as part of the Highly Specialised Service for Rare Mitochondrial Disorders of Children and Adults, delivered in collaboration with NHS England designated centres.
Contribute to multidisciplinary team (MDT) meetings, specialist clinics, and collaborative case discussions.
Support genomic testing pathways, interpretation of results, and integration of genomic data into clinical care.
Engage in service development, audit, and teaching activities, and contribute to ongoing research collaborations in mitochondrial medicine.
Main duties of the job
The main focus of this role will be diagnosis and management of children and adults with rare genomic disorders particularly mitochondrial disorders.
The post holder will run 2 clinics per month at the main GOSH site. Some appointment could be held virtually. There is no on-call commitment, but the post holder will take a share in the rota cover for the genetics service which includes reviewing referrals, seeing patients who require urgent review and giving advice over the telephone/by email.
Due to the mainstreaming of genomic medicine and availability of whole genome sequencing, there is an increasing need for expertise in variant interpretation. A contribution at both Genomic and Clinical MDT meetings will be expected.
Training is an important component of consultant job plans. Experience in clinical and educational supervision would be desirable.
The postholder will be part of a dynamic and forward-thinking clinical team and will be required to contribute to service development and quality improvement projects. This is a replacement post for a colleague who has retired.
About us
We are keen to make our workforce as diverse as the communities we serve, and we hope to attract applications from underrepresented groups, including people with Black, Asian and Minority Ethnic heritage, people with a disability, and people from LGBTQ+ communities. By growing an ever more diverse workforce, we'll have a greater range of perspectives and knowledge, meaning that we can provide the children and young people at our hospital with even better care.
Our hospital is committed to creating an environment that is open and inclusive. Our staff are encouraged to engage with colleagues through the following networks: REACH (Race, Ethnicity and Cultural Heritage) ENABLED (Enhancing Abilities & Leveraging Disabilities Network), PRIDE and Women's networks; all of which are sponsored by a member of our Executive Management Team.
We want to ensure that all of our people, regardless of their background, are seen and heard. We want to attract applicants that share our commitment to inclusion and that understand diversity is a strength that is embraced and valued.
Job description
Job responsibilities
The full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience and knowledge required. For both documents please view the attachments.
Job description
Job responsibilities
The full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience and knowledge required. For both documents please view the attachments.
Person Specification
GOSH Culture and Values
Essential
- Always welcoming
- Always helpful
- Always expert
- Always one team
- Knowledge and Understanding of diverse backgrounds and perspectives.
Academic/Professional qualification/Training
Essential
- GMC specialist registration with a Licence to Practice (obtained by designated start date)
- MRCP, MRCPCH or equivalent
- CCT/CCST in Clinical Genetics (or within 6 months at time of interview) or equivalent training and experience (eligible for CESR)
- Higher degree - PhD, MD or equivalent
Desirable
- Formal teaching qualification
- Leadership qualification
Experience/Knowledge
Essential
- Extensive experience in managing patients requiring Clinical Genetics assessment and management, particularly mitochondrial disorders
- Experience of teaching students and multi- disciplinary team
- Experience of leading in Clinical Audit processes
- Published research in peer reviewed journals in relevant area
- Awareness of the importance of Clinical Governance through experience of participating in quality or safety improvement projects
- Experience of recruiting patients to clinical research trials and obtaining research funding
Desirable
- Experience of working in shared care clinics and clinical networks
- Experience of organizing and leading clinical training
- Experience of clinical leadership or management
Skills/Abilities
Essential
- High level written and oral communication skills
- Ability to organise and prioritise own workload
- Ability to work under pressure in a multi-disciplinary environment
- Presentation skills
- Understanding and proven ability to apply research findings in a clinical/organisational context
- Excellent interpersonal and negotiating skills
- Ability to work on own initiative within an ever changing environment.
Desirable
Person Specification
GOSH Culture and Values
Essential
- Always welcoming
- Always helpful
- Always expert
- Always one team
- Knowledge and Understanding of diverse backgrounds and perspectives.
Academic/Professional qualification/Training
Essential
- GMC specialist registration with a Licence to Practice (obtained by designated start date)
- MRCP, MRCPCH or equivalent
- CCT/CCST in Clinical Genetics (or within 6 months at time of interview) or equivalent training and experience (eligible for CESR)
- Higher degree - PhD, MD or equivalent
Desirable
- Formal teaching qualification
- Leadership qualification
Experience/Knowledge
Essential
- Extensive experience in managing patients requiring Clinical Genetics assessment and management, particularly mitochondrial disorders
- Experience of teaching students and multi- disciplinary team
- Experience of leading in Clinical Audit processes
- Published research in peer reviewed journals in relevant area
- Awareness of the importance of Clinical Governance through experience of participating in quality or safety improvement projects
- Experience of recruiting patients to clinical research trials and obtaining research funding
Desirable
- Experience of working in shared care clinics and clinical networks
- Experience of organizing and leading clinical training
- Experience of clinical leadership or management
Skills/Abilities
Essential
- High level written and oral communication skills
- Ability to organise and prioritise own workload
- Ability to work under pressure in a multi-disciplinary environment
- Presentation skills
- Understanding and proven ability to apply research findings in a clinical/organisational context
- Excellent interpersonal and negotiating skills
- Ability to work on own initiative within an ever changing environment.
Desirable
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).
UK Registration
Applicants must have current UK professional registration. For further information please see
NHS Careers website (opens in a new window).
Additional information
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).
UK Registration
Applicants must have current UK professional registration. For further information please see
NHS Careers website (opens in a new window).
