The Centre for Rare Disease Studies at the University of Birmingham works closely with other organisations from Birmingham Health Partners; Birmingham Children’s and Women’s Hospital and University Hospitals Birmingham.

Projects include:

• investigating the effectiveness of Nanopore sequencing, a new type of genome sequencing, which could help in the diagnosis of rare genetic disorders. 
• investigating whether a type of immune cell, known as gamma-delta T cells can be used to develop an effective therapy for liver cancer. 
• studying whether a new medical device could help people with the rare condition primary sclerosing cholangitis (PSC) where the immune system attacks itself. 
• studying a genetic therapy that could prevent damage to the DNA of nerve cells that occurs as rare neurodegenerative diseases progress. 
• a study aiming to improve the health of patients with rate childhood onset of neurodegeneration.

University College London has over 100 clinical academic research groups investigating more than 350 rare diseases. They are currently evaluating 19 applications, with the aim of funding five, for therapies and diagnostics at an early stage of development spanning a range of rare diseases. 

Professor Stuart Forbes from the University of Edinburgh shared: “We are excited to be working with LifeArc in the important area of developing therapies for rare diseases. This will enable researchers from the University of Edinburgh to focus their excellent research against these difficult medical challenges. By working together and finding common approaches we will seek to have maximum impact and develop new therapies for patients with rare diseases where there is currently such unmet need.

Projects include:

• using novel ERK5 inhibitors to treat metastatic osteosarcoma. 
• characterising an ultra-rare acute febrile encephalopathy. 
• understanding neuronopathic lysosomal storage diseases and developing treatment biomarkers. 
• treating cardiac arrhythmias in an inherited arrhythmia syndrome. 
• testing novel treatments for hereditary spastic paraplegia type 82. 
• evaluating cancer risk in rare familial disease 
• curing genetic kidney malformations using HPSC-derived kidney organoids. 
• identifying therapeutic targets for RAC1-related neurodevelopmental disorder. 
• gene therapies for rare diseases in NHS England.

The team at The Newcastle Centre for Rare Disease unites over 120 experts from Newcastle University and the Newcastle-upon-Tyne Hospitals NHS Trust. 

Their work spans multiple disease areas and disciplines, and they are now notifying top-ranked proposals which will advance translational research in rare neurodegenerative, renal, immune and neuromuscular diseases.  

Projects include:

• using ex vivo imaging to measure drug efficacy to screen potential new effective treatments for Glioblastoma – a rare cancer with median survival of 15 months (PI: Danson and Wells). 
• developing a clinical translational pipeline for the development of therapies for Hereditary spastic paraplegia (HSP) associated with mutations in SPG7 and SPG4 (PI: Mortiboys). 
• pre-clinical assessment and target validation of first-in-class compounds to treat incurable gliomas (PI: Collis). 
• developing a gene therapy for HNRNPU related neurodevelopment disorder, a rare genetic disease which leads to developmental delays and seizures (PI: Wilson). 
• using AI for the automated diagnosis and management of salivary gland cancers (PI:  Khurram). 
• determining the therapeutic benefit of restoring axonal transport in amyotrophic lateral sclerosis (ALS) (PI: de Vos).