Rare diseases are one of the five core research areas at the MRC Weatherall Institute of Molecular Medicine. Rare Disease Day is a globally coordinated movement on rare diseases observed every year on 28 February (or 29 in leap years)—the rarest day of the year.
Sarah Gooding is a Clinician Scientist in the Chapman Group, who is researching Multiple Myeloma - a currently incurable type of bone marrow cancer that desperately requires friendlier therapies.
"Although we still don't have a cure for Multiple Myeloma, it is an extremely exciting time to be doing my research and clinical trials. We've had a lot of new therapies that have come through clinical trials and are beginning to now be adopted into clinical practice, in particular the sorts of therapies that harness the immune system to attack the cancer cells."
Yin Dong, leader of the Dong Group, is focused on Congenital Myasthenia and Congenital Disorders of Glycosylation - rare diseases that result in muscle weakness and developmental delay.
"Trying to develop drugs that are economically viable for rare conditions is always a challenge. The other major challenge for these diseases is finding delivery mechanisms for the gene or protein to the right tissues in a safe and effective way, which is a challenge for most of the subtypes of these conditions."
Eleni Louka, a clinical academic Paediatric Haematologist in the Mead Group, is investigating Paediatric Myelodysplastic Syndromes and Juvenile Myelomonocytic Leukaemia - incredibly rare childhood cancers, with no current treatment options available.
"These patient groups are really in huge need of developing new therapies that are disease-specific and they would really help to alter the prognosis of these children... We've been very lucky to have a really motivated group of families and parents in the UK - they really embrace the research and actually now work with us..."