Volv PR graphic Linked In24 Feb 2021
Improving the Rare Disease Diagnostic Journey with Advanced AIChristopher Rudolf

The journey from first symptoms to diagnosis is a long one for most patients with rare diseases. According to a survey from EURODIS, 25 per cent of patients with among the most common rare diseases waited between 5 and 30 years for a diagnosis and 40 per cent were misdiagnosed during that time. There are many reasons why diagnosis is so challenging. One is that most physicians have limited knowledge about rare or ultra-rare diseases. Another is that as many as 60% of rare diseases present with significant heterogeneity of symptoms, making it extremely difficult to diagnose patients early enough in their disease progression. A third barrier to diagnosis can often be attributed to the complexity of the diagnostic test currently available. For some rare conditions, deep muscle biopsies are still used for diagnosis and for some rare heart conditions, stents are often the only commercial diagnostic tool available to accurately identify a condition.

Photo by National Cancer Institute on www.unsplash.com11 Feb 2021
Building Your Gene Therapy Value Story From Day OneChristopher Rudolf

Determining patient prevalence with rare and ultra-rare diseases has long been a challenge for industry, investors and payers. Accurate prevalence data, along with the ability to locate patients that could benefit from a breakthrough ATMP, will enable companies to present their value story from the start of the R&D journey.

Nigh Sky sml12 Jan 2021
Why can’t we find the 50% of people with rare diseases?Christopher Rudolf

It might be said that picking out patterns to identify patients with rare diseases is a bit like distinguishing thousands of constellations of stars. Neither is within the scope of the human eye and both require extremely advanced technologies to even begin to decipher and separate patterns. Yet finding the 50 percent of undiagnosed patients with one of the approximately 7,000 rare diseases is a medical and clinical imperative.

Volv Seedlink2000x10002 Feb 2018
Finding Patients for Rare Diseases: Accurate insight into rare diseases enhanced by AIChristopher Rudolf

This case study derives from an ongoing Volv engagement, which started in July 2017. A pharmaceutical company approached Volv Global to develop a prediction model to identify additional patients suffering from the rare disease treatable by its specialist medicine.