Using Data To Improve Rare Disease Diagnosis And Treatment

A deeper understanding of rare diseases – how they differ across geographies and ethnicities, or which genes and biomarkers are most useful targets for new treatments – can help to accelerate and de-risk clinical trials. On the commercial front, patient data and insights could mean the difference between a category leader and a failure.

DNA test graphic

Rare diseases are uncommon by nature: no physician can be expected to know implicitly what is wrong with every patient that walks through his or her door, or who appears in a telehealth chat window. The biopharmaceutical industry, due to structural issues both corporate and legal, tend to focus on geographic markets; regulatory requirements reinforce this approach, since most countries require clinical trials conducted on local populations, as a condition of approval.

Rare diseases are any disease, disorder, illness or condition affecting fewer than 200,000 people in the US, as defined by the Orphan Drug Act of 1983. In the European Union, a disease is considered rare if it affects less than five individuals per 10,000. Most rare diseases have a genetic basis, affecting as many as 400 million people worldwide -- including 30 million in Europe and 25 million in the US – according to a World Health Organization estimate. Only 74 rare congenital or genetic diseases have an approved therapy, accounting for less than 3% of all such diseases, according to Datamonitor Healthcare.

Diseases, however, do not respect borders, a fact which COVID-19 has painfully demonstrated over the last 18 months. Similarly, rare...

Read the full article – start your free trial today!

Join thousands of industry professionals who rely on In Vivo for daily insights

  • Start your 7-day free trial
  • Explore trusted news, analysis, and insights
  • Access comprehensive global coverage
  • Enjoy instant access – no credit card required

More from Market Intelligence

More from In Vivo

Deals Shaping The Industry, May 2025

 
• By 

An interactive look at pharma, medtech and diagnostics deals made during May 2025. Data courtesy of Biomedtracker.

Podcast: Flagship’s Vision To Predict And Prevent Illness, With Raj Panjabi

 
• By 

Flagship Pioneering senior partner Raj Panjabi discusses shifting health care from reactive treatment to AI-powered prediction and prevention of disease before symptoms emerge.

Rising Leaders 2025: Namrata Saroj On The Importance Of Authenticity In Ophthalmology

 

Namrata Saroj, chief business officer of Ocular Therapeutix, is highly respected in the retina community for her contributions to drug development. She talked to In Vivo about her journey in ophthalmology, leadership philosophy and the importance of authenticity in a close-knit specialty.