Our research in the Centre for Rare Disease Studies

Acute leukaemia including rare sub-types and other rare cancers, for example certain forms of neuroblastoma
Dr Geoffrey Brown
Department of Immunology and Immunotherapy, School of Infection, Inflammation and Immunology, College of Medicine and Health

Acute leukaemia including rare sub-types and other rare cancers, for example certain forms of neuroblastoma
Dr Claire Shannon-Lowe
Department of Immunology and Immunotherapy, School of Infection, Inflammation and Immunology, College of Medicine and Health

Aggressive NK leukaemia
Dr Claire Shannon-Lowe
Department of Immunology and Immunotherapy, School of Infection, Inflammation and Immunology, College of Medicine and Health

Ataxia telangiectasia (A-T) and A-T-like disorders
Professor Grant Stewart
Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Ataxia telangiectasia (A-T) caused by ATM mutation
Professor Malcolm Taylor
Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Ataxia telangiectasia like disorder (ATLD)- caused by MRE11 mutation
Professor Malcolm Taylor, Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Ataxia oculomotor apraxia type 1 (AOA1) caused by mutation of APTX gene
Professor Malcolm Taylor, Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Ataxia oculomotor apraxia type 2 (AOA2) caused by mutation of the SETX gene
Professor Malcolm Taylor. Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

A-T like disorder caused by mutation of TTI2 gene
Professor Malcolm Taylor, Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Neurological disorders important in the differential diagnosis of A-T
Professor Malcolm Taylor, Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Fanconi Anaemia and Fanconi Anaemia-like disorders 
Dr Martin R. Higgs Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Fanconi Anaemia and Fanconi Anaemia-like disorders 
Professor Grant Stewart  Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Fanconi anaemia (FA-N). Milder patients (caused by PALB2 gene) 
Professor Malcolm Taylor Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Inherited bleeding disorders 
Professor Steve Watson Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health

Extranodal NK/T cell lymphoma 
Dr Claire Shannon-Lowe Department of Immunology and Immunotherapy, School of Infection, Inflammation and Immunology, College of Medicine and Health

Fetal Lower urinary tract obstruction (LUTO)
Professor Mark Kilby Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Fetal Lower urinary tract obstruction (LUTO)
Dr Katie Morris Department of Applied Health Sciences, School of Health Sciences, College of Medicine and Health

Osteogenesis imperfecta & other rare bone fragility syndromes
Professor Neil Gittoes, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Genetic bone disorders
Dr Zaki Hassan-Smith
Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Osteopetrosis type II (Albers-Schönberg disease)
Dr Richard Tuxworth
Department of Cancer and Genomic Sciences, School of Medical Sciences, College of Medicine and Health

Adrenocortical carcinoma
Professor Wiebke Arlt, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Burkitt lymphoma
Dr Andrew Bell, Department of Cancer and Genomic Sciences, College of Medicine and Health

Hodgkin lymphoma
Dr Andrew Bell, Department of Cancer and Genomic Sciences, College of Medicine and Health

EBV positive diffuse large cell lymphoma
Dr Andrew Bell, Department of Cancer and Genomic Sciences, College of Medicine and Health

Phaeochromocytomas 
Professor Wiebke Arlt, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Phaeochromocytomas
Dr Zaki Hassan-Smith, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Pituitary carcinoma
Professor Niki Karavitaki, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Post transplant lymphoma 
Dr Andrew Bell, Department of Cancer and Genomic Sciences, College of Medicine and Health

Thyroid cancer (differentiated)
Professor Kristien Boelaert, Department of Applied Health Sciences, College of Medicine and Health

Thyroid cancer - medullary
Professor Christopher McCabe Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Thyroid cancer - papillary 
Professor Christopher McCabe, Department of Metabolism and Systems Science, School of Medical Sciences, College of Medicine and Health

Arrhythmogenic right ventricular cardiomyopathy
Professor Larissa Fabritz Department of Cardiovascular Sciences, College of Medicine and Health

Brugada syndrome
Professor Larissa Fabritz Department of Cardiovascular Sciences, College of Medicine and Health

Catecholaminergic Ventricular Tachycardia
Professor Larissa Fabritz, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time
 Dr Paul Clift, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time
Dr Nigel Drury, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time
Dr Victoria Stoll, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, children
Professor Melanie Madhani, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, children
Dr Paul Clift, Department of Cardiovascular Sciences, College of Medicine and Health

Congenital heart disease, children
Dr Nigel Drury Department of Cardiovascular Sciences, College of Medicine and Health
 

Paediatric congenital heart disease
Dr Victoria Stoll, Department of Cardiovascular Sciences, College of Medicine and Health

Hypertrophic cardiomyopathy (HCM)
Dr William Bradlow, Department of Cardiovascular Sciences, College of Medicine and Health

Hypertrophic cardiomyopathy (HCM)
Professor Larissa Fabritz ,Department of Cardiovascular Sciences, College of Medicine and Health

Long QT Syndrome
Professor Larissa Fabritz Department of Cardiovascular Sciences, College of Medicine and Health

Acromegaly
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Androgen excess disorders 
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Adrenal insufficiency
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Congenital adrenal hyperplasia
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Congenital hypothyroidism
Professor Kristien Boelaert Department of Applied Health Sciences College of Medicine and Health

Craniopharyngioma
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Cushings disease
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Cushing's syndrome
Dr Zaki Hassan-Smith Department of Metabolism and Systems Science, College of Medicine and Health

Cushing's syndrome
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Disorders of sexual differentiation
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Hypophysitis
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Hypopituitarism
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Kallman Syndrome
Dr Martin R. Higgs Department of Cancer and Genomic Sciences, College of Medicine and Health

Nelson syndrome
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Pituitary adenoma (non-functioning)
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Prolactinoma
Professor Niki Karavitaki Department of Metabolism and Systems Science, College of Medicine and Health

Steroidogenesis disorders
Professor Wiebke Arlt Department of Metabolism and Systems Science, College of Medicine and Health

Rare eye disorders
Professor Alastair Denniston, Department of Inflammation and Ageing, College of Medicine and Health

Birdshot uveitis (rare inflammatory diseases)
Professor Alastair Denniston, Department of Inflammation and Ageing, College of Medicine and Health

Unknown disorders caused by mutations in SETD1A or SETD1B
Dr Martin R. Higgs, Department of Cancer and Genomic Sciences, College of Medicine and Health

Kabuki Syndrome
Dr Martin R. Higgs, Department of Cancer and Genomic Sciences, College of Medicine and Health

Microcephalic Primordial Dwarfism, Primary Microcephaly, Growth retardation disorders
Professor Grant Stewart, Department of Cancer and Genomic Sciences, College of Medicine and Health

Nijmegen Breakage Syndrome
Professor Grant Stewart, Department of Cancer and Genomic Sciences, College of Medicine and Health

Nijmegen Breakage Syndrome (caused by mutation of NBS1), & Nijmegen Breakage Syndrome like disorder (caused by mutation of Rad50 gene
Professor Malcolm Taylor, Department of Cancer and Genomic Sciences, College of Medicine and Health

Seckel Syndrome
Professor Grant Stewart, Department of Cancer and Genomic Sciences, College of Medicine and Health

Seckel Syndrome (caused by ATR gene)
Professor Malcolm Taylor Department of Cancer and Genomic Sciences, College of Medicine and Health

Weidemann-Steiner Syndrome
Dr Martin R. Higgs, Department of Cancer and Genomic Sciences, College of Medicine and Health

Chronic active EBV
Dr Claire Shannon-Lowe Department of Immunology and Immunotherapy College of Medicine and Health

Hydroa vacciniforme (HV)
Dr Claire Shannon-Lowe Department of Immunology and Immunotherapy College of Medicine and Health

ANCA associated vasculitis
Professor Lorraine Harper, College of Medicine and Health

Behcet’s Disease (rare inflammatory diseases)
Dr Graham Wallace, Department of Inflammation and Ageing, College of Medicine and Health

IgG4-related disease
Dr Palak Trivedi, Department of Immunology and Immunotherapy, College of Medicine and Health

Fabry disease
Dr Tarek Hiwot, Department of Metabolism and Systems Science, College of Medicine and Health

Fabry disease
Professor Richard Steeds, Department of Cardiovascular Sciences, College of Medicine and Health

Mucopolysaccharidoses
Dr Tarek Hiwot, Department of Metabolism and Systems Science, College of Medicine and Health

Autoimmune hepatitis
Professor Ye Htun Oo, Department of Immunology and Immunotherapy, College of Medicine and Health

Autoimmune hepatitis
Dr Palak Trivedi, Department of Immunology and Immunotherapy, College of Medicine and Health

Metabolic liver disease
Dr Claire Shannon-Lowe, Department of Immunology and Immunotherapy, College of Medicine and Health

Primary biliary cirrhosis
Dr Palak Trivedi, Department of Immunology and Immunotherapy, College of Medicine and Health

Primary biliary cirrhosis
Professor Ye Htun Oo, Department of Immunology and Immunotherapy, College of Medicine and Health

Primary Sclerosing Cholangitis
Professor Ye Htun Oo, Department of Immunology and Immunotherapy, College of Medicine and Health

Primary sclerosing cholangitis (PSC)
Dr Palak Trivedi, Department of Immunology and Immunotherapy, College of Medicine and Health

Alstrom syndrome
Dr Tarek Hiwot, Department of Metabolism and Systems Science, College of Medicine and Health

Alstrom syndrome
Professor Richard Steeds, Department of Cardiovascular Sciences, College of Medicine and Health 

CHARGE Association
Dr Martin R. Higgs, Department of Cancer and Genomic Sciences, College of Medicine and Health 

Intellectual disability behavioural, cognitive and emotional disorders in genetic syndromes
Professor Chris Oliver, School of Psychology, College of Life and Environmental Sciences 

Wolf-Hirschhorn syndrome (WHS)
Dr Roger Grand, Department of Cancer and Genomic Sciences, College of Medicine and Health 

Wolfram Syndrome related neurodegeneration
Dr Zsuzsanna Nagy, Department of Inflammation and Ageing, College of Medicine and Health

Amyotrophic Lateral Sclerosis (ALS)
Dr Roger Grand, Department of Cancer and Genomic Sciences, College of Medicine and Health

Early-onset childhood neurodegenerative disorders like Niemann-Pick type C1 (NPC1) disease and Wolfram syndrome
Dr Sovan Sarkar Department of Cancer and Genomic Sciences, College of Medicine and Health

Juvenile infantile neuronal ceroid lipofuscinosis
Dr Richard Tuxworth, Department of Cancer and Genomic Sciences, College of Medicine and Health

Idiopathic intracranial hypertension
Professor Alexandra Sinclair, Department of Metabolism and Systems Science, College of Medicine and Health

Late infantile neuronal ceroid lipofuscinosis
Dr Richard Tuxworth, Department of Cancer and Genomic Sciences, College of Medicine and Health

Neurodevelopmental and genetic syndromes (e.g., Angelman syndrome, Smith-Magenis syndrome, Tuberous Sclerosis Complex, Phelan-McDermid syndrome). Behaviour aspects
Dr Caroline Richards, School of Psychology, College of Life and Environmental Sciences

Neurodevelopmental disorders, challenging behaviour, mental health, executive functioning, emotion regulation
Dr Kate Woodcock, School of Psychology, College of Life and Environmental Sciences

Niemann-Pick type C1 disease
Dr Sovan Sarkar, Department of Cancer and Genomic Sciences, College of Medicine and Health

Alpha-1 Antitrypsin Deficiency (AATD)
Dr Alice Turner (nee Wood), Department of Metabolism and Systems Research, College of Medicine and Health