Two companies with access to data from the 100,000 Genomes Project have identified patients with previously undiscovered life-threatening kidney and neurological diseases. The companies, Alexion and BioMarin, were part of Genomic England’s Discovery Forum, which grants certain industry research proposals access to data from the project, following a vetting procedure.

Biopharmaceutical company Alexion identified 14 individuals with undiagnosed nephronophthisis, a rare childhood genetic disorder that usually results in kidney failure by 15 years old. No preventative treatments are currently available. The findings were shared with Genomics England, as well as the clinical teams of each patient.

BioMarin, on the other hand, used the information provided by the 100,000 Genomes Project to identify one patient in the study carrying two pathogenic mutations of the TPP1 gene, which are generally a cause of the very rare inherited disorder neuronal ceroid lipofuscinoses 2. As with Alexion’s discovery, the data was shared with Genomics England and the patients’ clinical teams, and is expected to help clinicians find more treatment options for such genetic disorders.

BioMarin’s CSO, Dr Lon Cardon, said that: “The focus of rare undiagnosed diseases in Genomics England’s 100,000 Genomes Project provides us with a unique opportunity to better understand the clinical spectrum of devastating childhood diseases, and to develop targeted therapeutics that can impact patients and their families.  We are excited about these initial findings and about improving alignment between disease diagnosis and access to available therapeutics in the UK and around the world.”

Genomics England noted that these two studies show the value of its Discovery Forum for identifying rare disease patients and better understanding certain illnesses, as well as noting the positive impact industry partnerships can have for both patients and the partners. Joanne Hackett, Chief Commercial Officer at Genomics England, said: “The potential applications of this are exciting. There are clear immediate benefits in developing new diagnostics technologies and data analysis tools. There are also long-term benefits that tie in with the paradigm shifts we are seeing in the pharmaceutical industry.

“We are leaving the age of the block-buster drug. The focus has moved to targeted therapies, drug repositioning, and reducing the failure rate of clinical trials. It is here that we see a lot of exciting potential applications of the 100,000 Genomics Project cohort data.”