We have made a number of donations over the years including Magnolia House, GOSH, Edward’s Trust, King’s College Hospital Starfish Appeal, Center for Liver Digestive & Metabolic Diseases at the University Medical Center Groningen (UMCG), Birmingham Children’s Hospital, and Transplant Kids. We have also paid for some of our MVA families to go to Legoland and Center Parks.
2020 – University of Groningen Project led by Sven van IJzendoorn
Microvillus inclusion disease (MVID) is a very rare and severe genetic bowel disorder that affects infants and young children. Degeneration of their small intestine causes the patients’ inability to absorb nutrients from the diet and makes them life-long dependent on intravenous feeding. Unfortunately, most patients also die from the severe complications that accompany long-term intravenous feeding. Recently, Sven van IJzendoorn and colleagues discovered a cellular defect in MVID that may be accountable for the degeneration of the small intestine and, importantly, can be treated with FDA-approved medicines. In the funded study, a mouse model of MVID will be used to further investigate the potential of this medicine to remedy this cellular defect and improve nutrient absorption. We hope that this medicine may decrease the need for intravenous feeding and, in this way, increase the chances of survival for children with MVID.
2016 – University of Groningen Project led by Sven van IJzendoorn
The Charity’s funding is acknowledged on page 1 of this article
Press Release We are delighted to announce that the Daniel Courtney Trust has awarded a significant research grant to Prof. dr. S (Sven) C. D. van IJzendoorn (PhD), Professor of Cell Biology and program leader of the Center for Liver Digestive & Metabolic Diseases at the University Medical Center Groningen (UMCG) in the Netherlands.
As a small, but passionate charity, we are extremely grateful to everyone who has supported us over the years. Your generosity has enabled us to make this wonderful donation, which we hope will bring us one step closer to finding a cure for such a devastating condition.
Microvillus Inclusion Disease (MVID) is a very rare and severe genetic intestinal disorder that affects infants and young children. Patients suffer from unstoppable diarrhea, do not tolerate normal food, and require life-long intravenous feeding and bowel transplantation as a last resort for survival. The prognosis is generally poor with high risks of life-threatening complications.
The low number of MVID patients makes it difficult to predict the natural course of this disease and to predict how clinical decisions influence the course of the disease. In 2013, we reviewed all available scientific literature on MVID and used this information to launch the international registry for MVID patients. With the generous support of Making it Better – The Daniel Courtney Trust, we can now use this registry to set up a natural history database, which is regarded as a pillar of epidemiological research on rare diseases. This natural history database will collect and bring together information on all patients with this disease over a period of many years to come, to advance the evaluation and improvement of best clinical practice and patient care. The ultimate improvement of patient care is of course a cure. The gene that is affected in MVID was identified in 2008 and since then around 60 different mutations in this gene have been found. In the same time period, novel ground-breaking technologies have been developed. These include stem cell technologies that allow scientists to grow cells from a patient’s urine in a culture dish and turn these into intestinal tissue. With the generous support of Making It Better – The Daniel Courtney Trust, we can apply these technologies to determine the potential of novel compounds to suppress disease-causing gene mutations in a manner that is tailored to the individual patients. If successful, it will be the first step towards a long-awaited curative treatment for children with MVID.
……………………………………………………………………………………………………………………………………………………..
About Sven van IJzendoorn and the University Medical Center Groningen
Prof. dr. S (Sven) C. D. van IJzendoorn (PhD) is a professor of Cell Biology and program leader of the Center for Liver Digestive & Metabolic Diseases at the University Medical Center Groningen (UMCG) in the Netherlands. His research is focused on understanding the molecular mechanisms that control the functional organization of cells, and to understand how these mechanisms contribute to health or, when disrupted, to human disease. It is in this context that his laboratory focuses on MVID which includes elucidating the pathogenesis, development of patient-specific cell models and lead identification for novel therapeutic strategies. Sven van IJzendoorn together with national and international colleagues identified several MVID gene mutations and published multiple scientific articles on the pathogenesis and clinical presentations of MVID. They also initiated the online international registry for patients with MVID in order to facilitate the quick and easy sharing of information among clinicians and researchers. The UMCG is one of three accredited medical centers in the EU that offer molecular diagnosis (gene testing) for patients with suspected MVID, is the national center for paediatric bowel transplantations with MVID experience, and is home to the national rare disease expert center for intestinal failure (accredited by the Netherlands Federation of University Medical Centers)
2012 Donation to GOSgene for Exome Sequencing in MVA Patients
The North East Thames Regional Genetics Service Laboratories, based at Great Ormond Street Hospital for Children, provide genetic diagnostic testing for a wide range of inherited conditions. In collaboration with Dr. Neil Shah and with generous funding from the Daniel Courtney Trust, the laboratory will be able to establish research testing for Myosin 5B, the gene that is responsible for causing Microvillus Atrophy.
Genes come in lots of different sizes! The Myosin 5B gene is relatively large containing 40 separate building blocks called “exons”. The DNA sequence of each of the 40 exons is analysed in turn to identify the mutation causing MVA. The funding provided will be used to design and validate assays for all 40 exons of the MYO5B gene.
Press Release The Daniel Courtney Trust is delighted to announce that they have made a £26,000 donation to GOSgene to investigate new genetic causes of Microvillous Atrophy (MVA). GOSgene is a Great Ormond Street Hospital and UCL Institute of Child Health (ICH) Biomedical Research Centre initiative, designed to help clinicians to identify new genetic causes in rare undiagnosed disorders. The research will be undertaken by Dr. Neil Shah (Consultant Paediatric Gastroenterologist GOSH) along with Professor Phil Beales (Professor of Medical and Molecular Genetics at the Institute of Child Health, UCL) and Dr. Chiara Bacchelli (Senior Research Associate and GOSgene Project Manager at UCL).
In August 2008 it was discovered that MVA is caused by mutations in the MYO5B gene. However, a considerable number of patients do not have any disease-causing mutation in this gene, suggesting that there must be other genetic causes. This is what the research seeks to discover.
The research will involve analysing the genetic material (DNA) of twenty MVA patients who have tested negative for mutations in the MYO5B gene, using an advance new technology called exome sequencing. Here comes the science bit…
DNA is organised into approximately 20,000 genes, which are packaged into chromosomes. This entire collection of DNA is called the genome, but only a small percentage (2%) of the genome actually contains genes. This 2% is called the exome, and gives the instructions to make all the proteins in the body – around 80% of all rare diseases are caused by mutations found in this area.
Exome sequencing is a very fast and relatively cheap method of detecting mutations in a person’s genes that may cause disease. Over the last two years, it has been applied to hundreds of patients suffering from undiagnosed genetic diseases and has been successful in identifying the genetic cause of many rare severe disorders. The GOSgene team have for example, been successful in finding the genetic cause of 11 different disorders. In many cases, the information revealed by exome sequencing resulted in crucial changes to the patient’s clinical care with more accurate diagnosis and genetic counselling for the families. Furthermore, identifying the causative gene can provide important clues about the underlying mechanism of the disease, and point to potential therapies.
We hope that this GOSgene-led research will prove successful in identifying the causative genes for the different types of MVA that have recently become apparent, and that it will provide answers for those families affected. We hope that it will increase our understanding of MVA and bring us one step closer to finding a cure.
We would like to extend a massive thank you to our supporters whose kindness and generosity has made this donation possible.
JEANS FOR GeNES GRANT
Following a recent application to Jeans for Genes, we are thrilled and delighted to announce that our proposed research project, aiming to identify mutations in the MYO5 Gene*, is to be funded with a grant of £20,000 through the UCL Institute of Child Health (ICH). The UCL Institute of Child Health, in partnership with Great Ormond Street Hospital, is the largest paediatric research centre outside the USA, specialising in pioneering clinical research and postgraduate teaching in children’s health.
The research for this exciting project will be undertaken by our Charity’s Patron, Dr. Neil Shah MBBS (Hons) MD MSc MRCP UK (Consultant Paediatric Gastroenterologist, Great Ormond Street Hospital), Professor Peter Scambler BSc MB ChB MD FRCPath FMedSci (Head of Molecular Medicine Unit at ICH) and Professor Phil Beales BSc MRCS MD MRCP (Wellcome Trust Senior Research Fellow & Honorary Consultant in Clinical Genetics, Molecular Medicine Unit at ICH).
On behalf of everyone at Making it Better – the Daniel Courtney Trust, we would like to extend our very grateful thanks to Professor Andrew Copp, Director of ICH and to everyone at Jeans For Genes. It is wonderful to be given the opportunity to carry out this important research, which we hope will be the first step towards a national diagnostic referral centre for primary disorders of the bowel.
* The MYO5 Gene was recently isolated as the gene responsible for causing Microvillous Atrophy.
2006 King’s College Hospital Silver Lining Appeal
