Academics, clinicians, charities and patient groups came together to mark Rare Disease Day on 28 February 2025.
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Academics, clinicians, charities and patient groups came together to mark Rare Disease Day on 28 February 2025. Held at the Tooting campus and online, more than 90 people gathered for an afternoon of presentations, a round table discussion and a networking session.
The event considered the power of genomics to inform and transform therapies for people with rare genetic conditions. Several City St George’s academics presented their latest research findings on new treatments for rare diseases including Sickle Cell Anaemia, hypophosphatasia and lymphovascular disorders.
Gene therapies for Sickle Cell Anaemia
Professor Mickey Koh, Professor of Haematology, St George’s Hospital gave an insight into his latest findings on treatments for Sickle Cell Anaemia and his work using gene therapy. The condition was the first disease discovered that resulted from a single point genetic mutation. The genetic fault results in deformed red blood cells being produced which block blood vessels, and patients develop a host of chronic complications.
The treatment works by inserting stem cells from people living with Sickle Cell Anaemia with a corrected version of a particular gene. The stem cells are then grown before being frozen and given back to the hospital, where they are then infused into the patient.
Looking to the future, Professor Koh told the audience that there was a need to consider safety, cost and equity of access for this high-cost treatment. “It clearly works – these patients do not need transfusions anymore. It’s very exciting and works from just one dose. The proof is there, and we can cure patients. The question is how this can be delivered in an affordable health care setting?”
Hypophosphatasia: the role of enzyme replacement therapy in adults
Dr Katie Moss, Consultant Rheumatologist, shared her research findings on a new treatment for hypophosphatasia, a rare inherited metabolic disease, which is primarily known to affect bone mineralisation and is a form of rickets.
The patients that Dr Moss and her team see in clinic often have fractures in their femoral bone in the thigh or metatarsal bones in the feet, which can be recurrent and challenging to heal.
The condition is related to a low level of alkaline phosphatase due to a genetic fault in a gene called ALPL. It also affects tooth enamel and causes calcium deposits in joints, calcified ligaments and muscle weakness.
Since 2017, treatment for hypophosphatasia has involved enzyme replacement therapy via a drug called Asfotase Alfa. However, the drug has numerous side effects including skin reactions where it is injected, bone pain, and joint swelling. Some patients need as many as nine injections a week and can develop bad lipodystrophy, which has stopped some patients continuing with treatment.
New therapies for lymphovascular disorders
Professor Sahar Mansour, Professor in Clinical Genetics, spoke about her research on exploring treatments for genetic forms of lymphoedema, a condition that causes chronic swelling in parts of the body.
She opened her presentation saying: “I'm really excited about where we are going with treatment of lymphovascular problems. We have here a national clinic, and we have a world-leading research team. There are now more than 40 genes that we know can cause primary lymphoedema, so each condition has different management, different treatment.”
Professor Mansour focused the talk on a very rare type of lymphatic problem, involving the central lymphatic system. She explained that it is a condition that’s notoriously difficult to image. “You can't visualise them like you can the heart or the blood vessels, but we’re doing more imaging now and getting to understand it a little better.”
She shared the story of a patient with Noonan Syndrome, a single gene disorder, which is often inherited. It can cause congenital heart problems, intellectual disability and a dangerous build-up of fluid on and in vital organs. She explained that a group in the US had used a new cancer drug called Trametinib, on two newborn babies with Noonan Syndrome which had a dramatic response.
The challenges in accessing and developing therapies for rare diseases
Following the research presentations, there was a round table discussion with a panel consisting of patient groups, families and charities. Mel Dixon from Cure DHDDS shared the work she is involved in to create a treatment pathway for her own children’s ultra rare genetic condition, of which there are only seven other known cases in the world.
Pooja Takhar from The Tuberous Sclerosis Association delved into their work to advance drug development and new therapies for a disease which is estimated to affect between 3,700 and 11,000 people in the UK. Emma Heslop from Duchenne Muscular Dystrophy Hub spoke about their work to establish a clinical trial accelerator network to help treat a condition with a patient life expectancy of late 20s and early 30s.
Transforming treatment landscape
The event attracted a wide range of charities and specialist organisations, including Genetic Alliance, FSHD UK, Generation Study, Lymphoedema Support Network, South-East Genomic Medicine Services, and Duchenne UK.
The event was organised by Dr Emma Matthews, Director of the Genomics Clinical Academic Group. Speaking about the event she said: “City St George’s is home to some of the world’s foremost experts in rare diseases, whose research is transforming the treatment landscape for patients. Having input from relevant charities and patient groups, and understanding their needs, is essential to developing new treatments."