Our research

We undertake research across a broad spectrum, from descriptions of the natural history of disease, to gene discovery, through to clinical trials and implementation of best practice in the clinic. Our research aims to have a positive impact on the lives of people affected by rare diseases.

Director of the Centre of Rare Disease Studies - Birmingham 

Investigators by rare disease area of interest

Anaemias

Acute leukaemia including rare sub-types and other rare cancers, for example certain forms of neuroblastoma

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Acute leukaemia including rare sub-types and other rare cancers, for example certain forms of neuroblastoma

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Aggressive NK leukaemia

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Ataxia telangiectasia (A-T) and A-T-like disorders

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Ataxia telangiectasia (A-T) caused by ATM mutation

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Ataxia telangiectasia like disorder (ATLD)- caused by MRE11 mutation

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Ataxia oculomotor apraxia type 1 (AOA1) caused by mutation of APTX gene

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Ataxia oculomotor apraxia type 2 (AOA2) caused by mutation of the SETX gene

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

A-T like disorder caused by mutation of TTI2 gene

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Neurological disorders important in the differential diagnosis of A-T 

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Fanconi Anaemia and Fanconi Anaemia-like disorders

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Fanconi Anaemia and Fanconi Anaemia-like disorders

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Fanconi anaemia (FA-N).  Milder patients (caused by PALB2 gene)

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Inherited bleeding disorders

 

Institute of Cardiovascular Sciences 
College of Medical and Dental Sciences

Extranodal NK/T cell lymphoma

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Antenatal disorders

Fetal Lower urinary tract obstruction (LUTO)
Institute of Metabolism and Systems Research
College of Medical and Dental Sciences
Fetal Lower urinary tract obstruction (LUTO)
Institute of Applied Health Research
College of Medical and Dental Sciences

Bone disorders

Osteogenesis imperfecta & other rare bone fragility syndromes

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Genetic bone disorders

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences
Osteopetrosis type II (Albers-Schönberg disease)
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Cancers


Adrenocortical carcinoma

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Burkitt lymphoma

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Hodgkin lymphoma

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

EBV positive diffuse large cell lymphoma

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Phaeochromocytomas

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Phaeochromocytomas

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Pituitary carcinoma

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Post transplant lymphoma

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Thyroid cancer (differentiated)

 

Institute of Applied Health Research
College of Medical and Dental Sciences

Thyroid cancer - medullary

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Thyroid cancer - papillary

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

 

Cardiac disorders


Arrhythmogenic right ventricular cardiomyopathy

Institute of Cardiovascular Sciences 
College of Medical and Dental Sciences

Brugada syndrome

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Catecholaminergic Ventricular Tachycardia

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time  

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease, adults e.g., Tetralogy of Fallot affecting both over time  

Dr Victoria Stoll
Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease, children  

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease, children

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Congenital heart disease,  children 

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Paediatric congenital heart disease 

 

Dr Victoria Stoll
Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Hypertrophic cardiomyopathy (HCM)

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

Hypertrophic cardiomyopathy (HCM)

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences
Long QT Syndrome
Institute of Cardiovascular Sciences
College of Medical and Dental Sciences

 

Endocrine disorders 


Acromegaly

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Androgen excess disorders

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Adrenal insufficiency

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Congenital adrenal hyperplasia

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Congenital hypothyroidism

 

Institute of Applied Health Research
College of Medical and Dental Sciences

Craniopharyngioma

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Cushings disease

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Cushing's syndrome

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Cushing's syndrome

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Disorders of sexual differentiation

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Hypophysitis

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Hypopituitarism

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Kallman Syndrome

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Nelson syndrome

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Pituitary adenoma (non-functioning)

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Prolactinoma

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Steroidogenesis disorders

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Eye disorders


Rare eye disorders

 

Institute of Inflammation and Ageing
College of Medical and Dental Sciences
Birdshot uveitis (rare inflammatory diseases)
Institute of Inflammation and Ageing
College of Medical and Dental Sciences

Gene variants of unknown function

 

Unknown disorders caused by mutations in SETD1A or SETD1B
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Growth disorders

 

Kabuki Syndrome

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Microcephalic Primordial Dwarfism, Primary Microcephaly, Growth retardation disorders

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Nijmegen Breakage Syndrome

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Nijmegen Breakage Syndrome (caused by mutation of NBS1), & Nijmegen Breakage Syndrome like disorder (caused by mutation of Rad50 gene

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Seckel Syndrome

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Seckel Syndrome (caused by ATR gene)

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences
Weidemann-Steiner Syndrome
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Infectious diseases


Chronic active EBV

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Hydroa vacciniforme (HV)

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Inflammatory disorders


ANCA associated vasculitis

 

Institute of Clinical Sciences
College of Medical and Dental Sciences

Behcet’s Disease (rare inflammatory diseases)

 

Institute of Inflammation and Ageing
College of Medical and Dental Sciences
IgG4-related disease
Dr Palak Trivedi
Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Inherited metabolic diseases


Fabry disease

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Fabry disease

 

Institute of Cardiovascular Sciences 
College of Medical and Dental Sciences
Mucopolysaccharidoses
Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Liver disorders


Autoimmune hepatitis

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Autoimmune hepatitis

 

Dr Palak Trivedi
Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Metabolic liver disease

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Primary biliary cirrhosis

 

Dr Palak Trivedi
Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Primary biliary cirrhosis

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Primary Sclerosing Cholangitis

 

Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences
Primary sclerosing cholangitis (PSC) 
Dr Palak Trivedi
Institute of Immunology and Immunotherapy
College of Medical and Dental Sciences

Multisystem disorders


Alstrom syndrome

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences
 

Alstrom syndrome

 

Institute of Cardiovascular Sciences
College of Medical and Dental Sciences
 

CHARGE Association

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences
 

Intellectual disability behavioural, cognitive and emotional disorders in genetic syndromes 

School of Psychology 
College of Life and Environmental Sciences
 

Wolf-Hirschhorn syndrome (WHS)

 

Dr Roger Grand 
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences
 
Wolfram Syndrome related neurodegeneration
Institute of Inflammation and Ageing
College of Medical and Dental Sciences

 

Neurological disorders


Amyotrophic Lateral Sclerosis (ALS)

 

Dr Roger Grand 
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Early-onset childhood neurodegenerative disorders like Niemann-Pick type C1 (NPC1) disease and Wolfram syndrome

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Juvenile infantile neuronal ceroid lipofuscinosis

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Idiopathic intracranial hypertension

 

Institute of Metabolism and Systems Research
College of Medical and Dental Sciences

Late infantile neuronal ceroid lipofuscinosis

 

Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Neurodevelopmental and genetic syndromes (e.g., Angelman syndrome, Smith-Magenis syndrome, Tuberous Sclerosis Complex, Phelan-McDermid syndrome). Behaviour aspects

School of Psychology 
College of Life and Environmental Sciences

Neurodevelopmental disorders, challenging behaviour, mental health, executive functioning, emotion regulation

School of Psychology 
College of Life and Environmental Sciences
Niemann-Pick type C1 disease
Institute of Cancer and Genomic Sciences
College of Medical and Dental Sciences

Respiratory disorders


Alpha-1 Antitrypsin Deficiency (AATD)
Institute of Metabolism and Systems Research
College of Medical and Dental Sciences