Scientific and Clinical Impact

Our discoveries have expanded the known genetic causes of hyperinsulinism. These genes and genetic loci are now included in diagnostic testing worldwide.

Genetic Diagnoses Delivered Worldwide for Congenital Hyperinsulinism

We have supported more than 5,500 families from over 80 countries by providing access to genetic testing. For over half of these families, we have delivered a definitive genetic diagnosis guiding clinical management. Many of these families have waited many years for an answer. Our work continues to ensure that every family receives an accurate genetic diagnosis.

Genetic Diagnosis Confirmed

Patient-Led Discoveries Changing Knowledge of Adult-Onset Hyperinsulinism

Our research is powered by patients who ask the questions that drive discovery. One lady, diagnosed with hyperinsulinism in her teens, had a family history of the condition affecting multiple relatives. She reached out to our team to ask whether it might be genetic. Her curiosity sparked a line of research that has since led to the identification of a variant in the non-coding region of SLC16A1, providing her and her family with a genetic diagnosis after years without answers. This work is shaping the future of our understanding of adult-onset hyperinsulinism.

Pioneering Research in the Non-Coding Genome: HK1 variants causing hyperinsulinism

We have identified many new genetic causes of congenital hyperinsulinism which have been published in high-impact journal. These include: HK1-HI, HNF4A-HI, PMM2-HI, MAFA-HI. Our latest discovery of HK1 variants in a non-coding cis-regulatory element of HK1 as a common cause of hyperinsulinism was published in the journal Nature Genetics. This discovery has so far enabled over 150 families to receive a genetic diagnosis whilst providing new insights into the biology of insulin regulation and how genes are controlled which is important for all rare disease.

Clinician Testimonials

Thank you so much for your great support and for sending us the results of our patients – Clinician, Vietnam

I want to thank your valuable help, for conducting the test for our patient. Thanks to your support to let us have a better approach of the case, now we have the diagnosis – Clinician, Guatemala

We would like to express our heart-felt thanks to you for doing mutation studies for our patients under your research project – Clinician, India

Thank you so much for the genetics and all the help. Thank you so much – Clinician, India

Thank you so much for your great support and for sending us the results of our patients – Clinician, Vietnam

We want you to know that the contribution you make to us is invaluable. There is only gratitude towards you and your team – Clinician, Argentina

Thank you for your laboratory’s kindness and promptness in helping us doing the genetic tests. The facilities available here are embryonic at best and the costs are prohibitive for poor families – Clinician, India

Thank you again, it’s fascinating to see how the world can work together to help patients in need – Clinician, Mexico