Do You Really Know all the Top Experts in Rare Diseases?

By Christian Schweiger and Gail Dutton

Who are the top experts in rare diseases? They may not be the ones you expect. If you’ve been working in this space for any time, you probably can list many of the leading experts without having to think about it. Unless you plumb the latest research, however, you’re missing many of today’s experts and emerging thought leaders.

The field of rare diseases is growing rapidly, spurred by Orphan Disease designations at the FDA and EMA, both of which grant priority reviews to products that treat rare and orphan diseases. Orphan Disease designation incentivized research in this narrow field – particularly once developers realized the cross-over benefits some of the research offered to their mainstream programs.

Before 1983, when the Office for Orphan Product Development was created at the FDA, only 38 orphan products were available. Between 1983 and July 2020, 599 orphan products were available to treat rare and orphan diseases, according to a new report from the National Organization for Rare Diseases (NORD).

Interest in rare diseases is truly global. In 2018, rare diseases were mentioned for the first time at the World Health Organization’s 71st World Health Assembly, and the International Rare Diseases Research Consortium has noted policy initiatives not only in the EU, U.S., and Canada, but also throughout the Asia-Pacific region (most notably in Australia, China, Japan, Korea).

This speaks to not only the increasing recognition of rare diseases as something to be addressed, but also to the growing legion of rare disease specialists specifically in translational research and development. Such growth suggests there is a large and growing number of highly specialized experts who are entering the rare disease arena from adjacent fields, led by the research. In fact, many of today’s rare disease researchers would not have been thought to be associated with rare disease programs even a few years ago.

A review of PubMed publications using the search term “rare disease” gives some idea of the growth in the field. The number of titles grew 6.25% between 2016 and 2017 (1,471 to 1,563); 10.6% between 2017 and 2018 (1,563 to 1,729); 11.91% between 2018 and 2019 (1,729 to1,935); and 19.17% between 2019 and 2020 (1,935 to 2,306). As of May 24, 2021, the number had grown to 1,167, putting it on a trajectory to possibly exceed the number of last year’s titles.  

Similar growth can be seen when searching for specific rare conditions. For example, the numbers of PubMed papers mentioning cystic fibrosis grew from 1589 in 2017 to 1805 in 2019.

These papers serve as surrogate markers for the growing numbers of experts in the field of rare and orphan diseases. It shows that new people are continually entering the field. The experts you worked with two or three years ago may have been supplanted by others, who may be delving into specific niches and bringing insights from other fields that may or may not seem adjacent.

Without a holistic database including all relevant experts, such as basic researchers, translational researchers, and practicing medical specialists, the pharmaceutical industry often relies on its own intrinsic knowledge of the field, based upon whom they know, whose papers they’ve read, and whom they’ve heard. Even with virtual conferences increasing the number of meetings a scientist can attend, that personal knowledge is limited.

Other traditional options are to reach out to patient advocacy and rare disease research organizations (such as the Rare Diseases Clinical Research Network) to identify experts, or to comb the scientific literature to determine who publishes or presents at conferences most frequently and who is changing their research focus. This approach is tedious and may easily fail to identify up-and-coming researchers with innovative insights who, as yet, may have relatively limited profiles.

None of these organizations have a comprehensive list of rare disease researchers or even all of those targeting one specific disease.

Medical affairs professionals can compile the most complete, accurate and current list,  however, with Pharmaspectra’s world-leading scientific database. Because Pharmaspectra indexes the proceedings and abstracts from approximately 22,000 scientific meetings each year, from international congresses to local grand round meetings – in addition to PubMed listings – therefore, results are the most current, with 50% of meeting abstracts loaded ahead of the event.

Using “cystic fibrosis” as an example, the Pharmaspectra database, covering 3,448 abstracts in 2017 growing to 4,248 in 2019. Pubmed alone just listed 1,589 in 2017 and 1,805 in 2019. This example is typical as the latest science is of course usually published in meeting abstracts first.

In addition to papers or presentation topics and their authors, Pharmaspectra enables its clients to identify which experts’ areas of interest have changed, specific niches, and whether their rates of publications, presentations and other activities are increasing or decreasing. In that way, you can identify the most appropriate and relevant experts, and emerging thought leaders, in a very rapidly growing field.

Pharmaspectra combines the world’s largest scientific and KOL data lake of ‘traditional’ and digital sources, with its unique Share of Scientific Voice™ platform, enabling pharma companies to measure and achieve scientific leadership.