Professor McFarland is Director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders and a consultant paediatric neurologist at the Great North Children’s Hospital in Newcastle.
Bobby trained in paediatrics and paediatric neurology in London and Newcastle upon Tyne. He began his research career studying the molecular consequences and clinical problems associated with mutations of mitochondrial DNA.
Bobby’s research now embraces gene discovery, determinants of pathogenicity in mitochondrial disease and clinical research projects including the development of clinical assessment tools, natural history studies, outcome measures and drug trials.
As Director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders, Bobby leads a team of clinicians, nurses and allied health professionals dedicated to the diagnosis and management of mitochondrial disease.
The close association of Bobby’s research and clinical work pays dividends for both; facilitating recruitment to the extremely successful national mitochondrial disease patient cohort study (n=1860), which he leads, and allowing rapid translation of research breakthroughs into clinical practice such as the ground-breaking IVF technique of Mitochondrial Replacement Therapy, where Bobby has leveraged Wellcome and NHS funding to offer a clinical research programme.
Bobby is currently Professor of Paediatric Mitochondrial Medicine and Action Medical Research Professor of Neuromuscular Disease at the Wellcome Centre for Mitochondrial Research in Newcastle University.
Research
Bobby’s research is focused on understanding and developing treatments for mitochondrial disease. Within that focus his interests encompass a range of endeavours from molecular genetics through neuropathology to natural history studies and clinical trials.
He is currently leading a neurodevelopmental study of children born following mitochondrial replacement therapy (mitochondrial donation).
Publications
Recent selected publications:
- Ng YS, Bindoff LA, Gorman GS, Klopstock T et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. PMID: 34146515
- Collier JJ, Guissart C, Oláhová M et al. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722.PMID: 34161705
- Ng YS, Martikainen MH, Gorman GS et al. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ann Neurol. 2019 Aug;86(2):310-315.
- Pickett SJ, Blain A, Ng YS et al. Mitochondrial Donation – Which Women Could Benefit? N Engl J Med. 2019 May 16;380(20):1971-1972.
- Persson Ö, Muthukumar Y, Basu S et al. Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions. Nat Commun. 2019 Feb 15;10(1):759
