Research interests
Professional background
Patient/population groups
Other: Hereditary Enamel Defects - Amelogenesis Imperfecta - relationship to general health
Dental conditions
Other: Hereditary Enamel Defects - Amelogenesis Imperfecta - relationship to general health
Other: Translation of genetic research discoveries to NHS genetic testing and clinical care of patients
Intervention types
Other: Translation of genetic research discoveries to NHS genetic testing and clinical care of patients
Other: Laboratory science with an emphasis on translation to clinical care
Methodologies
Other: Laboratory science with an emphasis on translation to clinical care
Research settings
Research experience
Precision diagnosis is key to improved clinical care and is a priority for the NHS (NHS 10Y Plan). Establishment of the NHS R340 gene panel test for Amelogenesis Imperfecta (AI) – hereditary enamel defects – was a step change for clinical care. A molecular diagnosis brings the certainty required to advance specialist dental care throughout childhood and onwards. It also informs timely referral to medical specialists where the molecular diagnosis impacts on other tissues and organs. This aligns with the UK Rare Diseases Framework. R340 testing is making a difference to care. However, most R340 test samples are reported as unsolved with a need to improve the effectiveness of R340 testing. Research-informed discovery science will continue to advance detection of hard-to-find variants and genes not previously associated with AI. These discoveries will inform development of NHS testing with benefit to individual patients, patient pathway development and design of future clinical services.
Project descriptions
Precision diagnosis is key to improved clinical care and is a priority for the NHS (NHS 10Y Plan). Establishment of the NHS R340 gene panel test for Amelogenesis Imperfecta (AI) – hereditary enamel defects – was a step change for clinical care. A molecular diagnosis brings the certainty required to advance specialist dental care throughout childhood and onwards. It also informs timely referral to medical specialists where the molecular diagnosis impacts on other tissues and organs. This aligns with the UK Rare Diseases Framework. R340 testing is making a difference to care. However, most R340 test samples are reported as unsolved with a need to improve the effectiveness of R340 testing. Research-informed discovery science will continue to advance detection of hard-to-find variants and genes not previously associated with AI. These discoveries will inform development of NHS testing with benefit to individual patients, patient pathway development and design of future clinical services.