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International Centre for Genomic Medicine in Neuromuscular Diseases

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ICGNMD Fellows

We have recruited 10 International and 5 UK-based ICGNMD Fellows to grow capacity in clinical genomics in Neuromuscular Diseases (NMDs). International Fellows attended a month-long Study Induction in the UK in January 2020, where they met one another, gained experience of the REDCap database and developed research plans for the next 3-5 years. 

Six International Fellows will complete a PhD relevant to genomics of Neuromuscular Diseases, jointly-supervised by ICGNMD PIs from their local Centre and the UK. Four Junior-Faculty Fellows will undertake collaborative research activities and also maintain cross-country ICGNMD links. 

All Fellows will attend and present at regular ICGNMD Webinars and attend international case discussion meetings. Through their research and training, they will establish themselves as experts in NMD clinical genomics and help to train others locally in this important area. 

ICGNMD Fellows Outside Queen Square
Brazil
 

Dr Pedro Tomaselli
Dr Pedro Tomaselli is an ICGNMD Faculty PI Fellow. He has particular expertise in inherited and peripheral neuropathies and will carry out research into a range of neuromuscular disorders. Pedro is based at University of Sao Paolo & Sao Paolo Clinical Hospital, Ribeirão Preto

Collaborating PIs: Brazil: Professor Wilson Marques Jnr; UK, UCL: Professor Mary Reilly

 

 

 

Dr Rodrigo Frezzati

Dr Rodrigo Frezatti is an ICGNMD PhD fellow who will study non 5Q proximal spinal muscular atrophy. He is based at University of Sao Paulo, Clinical Hospital of Ribeirão Preto

Supervisors: Brazil: Professor Wilson Marques Jnr & Dr Pedro Tomaselli; UK, UCL: Professor Mary Reilly

 

 

 

 


Dr Lucas Clementino

FAEPA ICGNMD Alumni: Dr Lucas Clementino was an ICGNMD Fellow from June 2019 to June 2021. During this time he recruited participants to the ICGNMD project and undertook a project on inherited neuropathies at the University of Sao Paolo & Sao Paolo Clinical Hospital, Ribeirão Preto

Supervisors: Brazil: Professor Wilson Marques Jnr & Dr Pedro Tomaselli; UK, UCL: Professor Mary Reilly

India

Dr Vishnu VY
Dr Vishnu VY is an ICGNMD Faculty PI Fellow and Centre Co-Investigator. He will pursue a range of subjects, including novel application of MRI in NMDs, Limb Girdle Muscular Dystrophy (LGMD), Facioscapulohumeral muscular dystrophy (FSHD) and  Anterior Horn Cell (AHC) disorders. He is based at the All India Institute of Medical Sciences (AIIMS), New Delhi.

Collaborating PIs:  AIIMS: PIs Professor Rohit Bhatia & Professor Padma Srivastava; UK Primary Collaboration Contacts, UCL: Professor Mary Reilly & Dr Rob Pitceathly

 

 

 

Two ICGNMD Fellows are based at Nizam's Institute for Mental Health and Neurosciences (NIMHANS), Bangalore.

 

Dr Nandeesh BN
Dr Nandeesh BN is an ICGNMD Faculty PI Fellow and Centre Co-Investigator. He is a clinical neuropathologist with broad interests in NMD-relevant subjects. Dr Nandeesh's work includes focus on mitochondrial disorders.

 

 

 

 

 

Dr Madhu Nagappa is an ICGNMD Faculty PI Fellow and Centre Co-Investigator. Both Dr Nagappa and Dr Nandeesh have strong links to mitochondrial disorders through their work with NIMHANS PI Dr Gayathri.

Collaborating PIs:  NIMHANS: Dr Gayathri N; UK Primary Collaboration Contacts, UCL: Professor Mary Reilly & Dr Rob Pitceathly

South Africa
 

Dr Kireshnee Naidu
Dr Kireshnee Naidu is an ICGNMD PhD Fellow studying muscular dystrophies & distal myopathies. She is an adult neurologist and her ICGNMD work will span two sites at Groote Schuur Hospital and Tygerberg Hospital.

Supervisors: Stellenbosch University: Professor Franclo Henning; University of Cape Town: Professor Jeannine Heckmann; UK, University of Newcastle: Professor Volker Straub

 

 

 

Dr Sharika Raga
Dr Sharika Raga is an ICGNMD PhD Fellow who will study "Centronuclear myopathy in Southern Africa" at the University of Cape Town. 

Supervisors: University of Cape Town (UCT): Professor Jo Wilmshurst; UK, Great Ormond Street Hospital Institute of Child Health (GOSH ICH): Professor Francesco Muntoni and Dr Anna Sarkozy

Turkey

Dr Ipek Polat
Dr Ipek Polat is an ICGNMD PhD Fellow who will study "Etiological factors & phenotyping-genotyping of congenital arthrogryposis". She is based at the Izmir Biomedicine and Genome Centre (IBG) & Dokuz Eylül Üniversitesi

Supervisors: IBG: Dr Yavuz Oktay & Professor Uluç Yis, UK, University of Cambridge:Professor Rita Horvath

 

 

 

Dr Ozlem Yayici Koken
Dr Özlem Yayici Köken is an ICGNMD PhD Fellow with a particular interest in muscular dystrophies. She works as a paediatric neurologist at Ankara City Hospital. Her PhD is based at Akdeniz University, Antalya Province.

Supervisors: Ankara: Associate Professor Esra Manguoğlu.  UK, Great Ormond Street Hospital Institute of Child Health (GOSH ICH): Professor Francesco Muntoni and Dr Anna Sarkozy

Zambia

Musambo Kapapa
Musambo Kapapa is an ICGNMD PhD Fellow and a highly-qualified physiotherapist at University Teaching Hospital (UTH), Lusaka. Ms Kapapa has broad interests across NMDs and physiotherapy. Her PhD is titled “The development of an evidence based Genetic Neuromuscular Diseases Management protocol for physiotherapists focused on physiotherapy practices, patients and family experiences in Zambia

Supervisors: UTH: Dr Michelle Kvalsund, Dr David Bearden & Dr Martha Banda; UK, UCL: Dr Gita Ramdharry

UK

Dr Will Macken
Dr Will Macken. Will is based at UCL and is doing a PhD in the genetics of mitochondrial disorders using exome, genome (100,000 Genomes Project) and transcriptome data. He is supervised by Dr Pitceathly and Professor Hanna. Will has a background in clinical genomics, across both adult and paediatric cases.

 

 

 

 

Dr Katherine Schon
Dr Katherine Schon is the Cambridge ICGNMD Fellow. Her PhD is supervised by Professor Patrick Chinnery and Professor Rita Horvath. She is interested in the molecular diagnosis, natural history and treatment of mitochondrial disorders. In addition to the ICGNMD, Katherine works with data from the 100,000 Genomes Project and Public Health England. Katherine has trained as a Clinical Geneticist with both adult and paediatric experience.

 

 

 

Dr Chris Record

Dr Chris Record has a post split 50:50 between the ICGNMD and Professor Mary Reilly’s clinical research group at UCL. Dr Record is taking a break from his clinical neurology training to pursue his interest in inherited neuropathy. His PhD will be in this subject. He is based at the Queen Square Centre for Neuromuscular Diseases. His role within the ICGNMD will involve analysis of whole exome or genome data, from patients with a clinical diagnosis of inherited neuropathy, to detect new pathogenic variants or genes. He also plans to assess regional or global genetic variation of inherited neuropathies.

 

 

Dr Luke Perry
Dr Luke Perry is undertaking a PhD entitled "Deep phenotyping and genotyping of rare and ultra-rare paediatric neuromuscular diseases; defining natural history and Identifying novel biomarkers with implications for diagnostic and translational purposes". His supervisors are Professor Francesco Muntoni and Dr Anna Sarkozy at Great Ormond Street Institute of Child Health (UCL GOS ICH).

 

 

 

 

Dr Mahmoud Fassad
Dr Mahmoud Fassad- Newcastle University ICGNMD Clinical PhD Fellow. Dr Mahmoud is a postdoctoral clinical fellow based at the Wellcome Centre for Mitochondrial Research, Newcastle University. He obtained his PhD in Genomic Medicine from University College London 2018. His research focus is to better characterize the genetic landscape and the phenotypic spectrum of mitochondrial diseases. His research project is supervised by Prof. Robert McFarland and Prof. Robert Taylor. Mahmoud has trained as a Clinical Geneticist with both adult and paediatric experience.

 

 

 

Christina Trainor portrait

Dr Christina Trainor is an ICGNMD Clinical Fellow at Newcastle University. She has a background in Adult Neurology and is currently taking time out of clinical training to pursue a PhD focussing on application of next generation sequencing techniques in a large cohort of patients with genetically undiagnosed limb girdle muscle weakness. Her research project will be supervised by Professor Volker Straub based at the John Walton Muscular Dystrophy Research Centre.