University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
The Exeter Centre for Hyperinsulinism Genetics YouTube channel shares videos from our researchers, including conference talks, research updates, and easy-to-understand educational content. Our aim is to increase awareness and understanding of congenital hyperinsulinism, share the latest discoveries in genetics, and support families, patients, and healthcare professionals around the world.
The Genetic Beta Cell Research Bank (GBCRB) is a tissue bank with over-arching ethics to carry out research into the mechanisms and genetic causes of congenital hyperinsulinism and diabetes. It stores samples from diagnostic archives and residual samples from research activity where enduring consent has been given, helping to ensure research sustainability. The GBCRB ensures effective guardianship of these samples, with a Steering Committee, led by Dr Jayne Houghton, reviewing all requests to use samples and associated data to ensure they are sensibly used to improve the diagnosis, care and treatment of genetic disorders of insulin secretion.
The Department of Molecular Genetics at the Royal Devon and Exeter Hospital provide routine genetic testing for patients diagnosed with congenital hyperinsulinism.
Genomics England PanelApp is a public knowledgebase for creating and reviewing virtual gene panels, including the R144 panel for Congenital Hyperinsulinism. Its crowdsourcing system enables experts to evaluate genes and genomic entities, supporting standardised, consensus-driven disease panels. Jayne Houghton, Sarah Flanagan and Kevin Colclough from the Exeter Centre for Hyperinsulinism Genetics are PanelApp reviewers. PanelApp underpins NHS Genomic Medicine Service panels and is freely available to other groups
The congenital hyperinsulinism centre at Great Ormond Street Children’s Hospital NHS Trust has treated over 500 patients and is a national and international referral centre for patients with this condition.
The Northern Congenital Hyperinsulinism Service (NORCHI) is a specialist centre in the north of the UK for the management of children with the rare and difficult condition of Congenital Hyperinsulinism (CHI).
The Congenital Hyperinsulinism Center at CHOP offers evaluation, diagnosis, treatment, and follow-up care for children with congenital hyperinsulinism (HI). It cares for an estimated 80% of children in the United States of America who require surgery for HI.
The Children’s Hyperinsulinism Fund is a UK-based which aims to support individuals in the UK who are living with congenital hyperinsulinism. Details of their Facebook group can be found here.
Congenital Hyperinsulinism International (CHI) is a charitable organisation dedicated to improving the lives of children, adults, and families with congenital hyperinsulinism from all over the world. For further information either visit their website or follow the group on Twitter @congenitalhi, Facebook or Instagram.
The HI Global Registry (HIGR) is the only patient-powered hyperinsulinism (HI) registry. A patient registry is an organized way of collecting information about a group of individuals with the same or related diseases. The HI Global Registry contains a series of surveys designed to capture information about various aspects of being diagnosed with and living with hyperinsulinism. Sarah Flanagan from the HIgenes team serves on the steering committee for this initiative.
The CHI Collaborative Research Network (CRN) is a dynamic international collaboration of researchers, clinicians, and expert patient and caregiver advocates working together to accelerate hyperinsulinism research. The CRN Mission is to create and sustain a hyperinsulinism collaborative research network that puts patients at the center of a strategy that leads to faster and more accurate diagnosis, drives new evidence-based treatments and cures, standardizes clinical guidelines, and facilitates increased and improved access. Sarah Flanagan from the HIgenes team serves is a scientific member of this group.
This website aims to provide information for patients and professionals on research and clinical care in genetic types of diabetes, including Maturity Onset Diabetes of the Young and Neonatal Diabetes.
The Hyperinsulinism research team at the University of Manchester have produced a number of excellent videos which provide information on many different aspects of congenital hyperinsulinism ranging from the genetics through to the treatment of this condition.
Courtesy of Congenital Hyperinsulinism International. Click here to view.
Short video describing the Open Hyperinsulinism Genes Project. Click here to view
In this podcast you hear insights from Julie Raskin, Congenital Hyperinsulinism International (CHI), New Jersey, who is mom to Ben who has congenital hyperinsulinism; Sheila Bose parent to 3 children born with congenital hyperinsulinism; Dr Sarah Flanagan, University of Exeter Medical School; Dr. Diva De León-Crutchlow, Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia; and Dr. Paul Thornton, Cook Children’s Medical Center, Texas.