Biography

I am a Nurse Consultant working in the Nationally-Commissioned Mitochondrial Service. I take an active role in the planning of service provision, developing care pathways and patient and public engagement activities.

I continually strive to improve patient experience and incorporate innovative practice. I have implemented a tele-health service to reduce clinic times and increase accessibility, without compromising quality and have extended my nursing role to include revision of the needle muscle biopsy service, streamlining the referral pathway, to ensure sustainability and transitioning to a nurse-led service. I provide direct patient care and consultation with my own case load in the mitochondrial MDT clinic. In addition I provide expert advice and consultancy to patients, carers and colleagues within the specialist area, as well as locally and nationally through telephone clinics and helpline service.

In the absence of curative treatments for mitochondrial disease, I also support the research activity in the department by leading and facilitating studies and focus groups to better understand the disease, develop new therapeutic strategies and improve patient care.

I qualified as a nurse in 1990 and have worked at the RVI for most of my nursing career, predominantly within Neurosciences. I developed an interest in mitochondrial disease whilst working on the Neurology ward caring for patients and families coping with complex physical and emotional needs. Their strength and determination to overcome disabilities and assist the clinical team in trying to find new treatments and cures has been an inspiration to me.

Research Focus

Bladder dysfunction in patients with mitochondrial disease.

A prospective cohort study enrolling consecutive men and women with genetically-confirmed mitochondrial disease. To evaluate LUT dysfunction in adults with genetically-confirmed mitochondrial disease.

The aim of this study is to determine the presence of lower urinary tract (LUT) dysfunction in patients with mitochondrial disease and their association with mitochondrial disease burden. A combination approach using ICIQ-LUTS questionnaire severity scores, evaluation of bladder diaries, and measurement of bladder emptying efficiency was pragmatically adopted, in an attempt to comprehensively assess and potentially detect LUT dysfunction.

Early analysis has demonstrated that clinically-relevant LUT dysfunction was observed in about 25% of our patient cohort. These patients are potentially at risk of long-term complications of bladder dysfunction including chronic urinary retention with its inherent increased risk of recurrent infection and renal impairment; yet these symptoms were thus far unrecognised and previously not investigated.

Analysis is ongoing and work on the development of clinical guidelines has commenced.

Sponsor/Funder: Newcastle Hosptials NHS Foundation Trust

Mitochondrial Disorders Priority Setting Partnership (PSP).

I am a clinical steering group member for the Mitochondrial Disorders PSP.

This is a collaboration of patients, carers and clinicians to identify the research questions most important to children and adults with mitochondrial disorders. The process involves asking the community for their unanswered research questions, reviewing and then ranking them. This follows a research methodology supported by the James Lind Alliance, so that the results of this PSP are comparable to other common and rare conditions.

This is due to report in 2020 and is funded by Genetic Alliance UK. Our hope is that this will lead to a set of research priorities to challenge the international research community to focus on the needs of people living with mitochondrial disorders.

Sponsor/Funder: Genetic Alliance UK (grant from the Wellcome Trust)

Publications:

• CL Feeney  AZ Lim  E Fagan  A Blain  A Bright  J Maddison  H Devine  J Stewart  RW Taylor  GS Gorman  DM Turnbull  V Nesbitt  R McFarland. A case‐comparison study of pregnant women with mitochondrial disease – what to expect? BJOG: An International Journal of Obstetrics & Gynaecology https://doi.org/10.1111/1471-0528.15667
• Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93
• Grady JP, Pickett SJ, Ng YS, Alston CI, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, 10(6), e8262.
• Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, e8262.
• Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Annals of Neurology 2016, 80(5), 686-692.
• Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 2016, 6, 30610.
• Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology 2015, 77(5), 753-759.
• Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for rnitochondrial disease. European Journal of Human Genetics 2014, 22(11), 1255-1259.