Company lists · Data refreshed September 2026

Top 25 Rare disease biotech companies worldwide

RevenueBase identified 383 rare disease biotech companies worldwide as of September 2026 and tracks 75,125 professional contacts across them, including 40,909 with verified work emails and 0 with mobile numbers. The United States is the largest market and Boston the largest hub.

This list covers rare disease biotech companies worldwide, matched on what each company actually does as described in its own words. Ranked by team size, largest first. Every row shows the company's own description, its RevenueBase Smart Search rating, and when it was last checked. Data refreshed September 17, 2026. Country and city lists for rare disease biotech companies follow the table.

Published by RevenueBase, a B2B data infrastructure company. This list was built with RevenueBase Smart Search, the natural-language company search RevenueBase customers use to build their own targeted lists and unlock verified emails and direct dials at the companies on them. How these lists are built and judged.

How to read this list HQ checked on every row RevenueBase Smart Search rating on every row Refreshed Sep 17, 2026 86% judged on-target in blind review
383Companies
75,125Contacts tracked
40,909Verified emails
0Mobile numbers
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The 25 largest rare disease biotech companies worldwide

Ranked by team size
Top 25 of 383 rare disease biotech companies worldwide, ranked by team size, largest first. Data refreshed Sep 17, 2026. RevenueBase Smart Search rates how each company's information relates to rare disease biotech companies: strong evidence (its own description names it), partial (names part of it), indirect (matched on the rest of its profile rather than the description shown). Click a contact count to view that company's people.
#CompanyRevenueBase Smart SearchHeadquartersEmployeesContacts
1Indirect evidenceSouth San Francisco, CA, United StatesHQ checked Sep 17, 202610001+17,217 contacts →

Indirect evidence

“About Genentech We're passionate about finding solutions for people facing the world's most difficult-to-treat conditions.”

Source: RevenueBase Database · checked Sep 17, 2026
2Indirect evidenceTarrytown, NY, United StatesHQ checked Sep 17, 202610001+16,043 contacts →

Indirect evidence

“At Regeneron we believe that when the right idea finds the right team, powerful change is possible.”

Source: RevenueBase Database · checked Sep 17, 2026
3Strong evidenceBoston, MA, United StatesHQ checked Sep 17, 20265,001-10,0008,099 contacts →

Strong evidence

“Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases and has made significant…”

Source: RevenueBase Database · checked Sep 17, 2026
4Strong evidenceBoston, MA, United StatesHQ checked Sep 17, 20261,001-5,0006,136 contacts →

Strong evidence

“Alexion, AstraZeneca Rare Disease is focused on pioneering new possibilities for the rare disease community.”

Source: RevenueBase Database · checked Sep 17, 2026
5Partial evidenceSan Rafael, CA, United StatesHQ checked Sep 17, 20261,001-5,0003,943 contacts →

Partial evidence

“Founded in 1997, BioMarin is a global biotechnology company dedicated to transforming lives through genetic discovery.”

Source: RevenueBase Database · checked Sep 17, 2026
6Indirect evidenceNovato, CA, United StatesHQ checked Sep 17, 20261,001-5,0001,556 contacts →

Indirect evidence

“Leading with purpose.”

Source: RevenueBase Database · checked Sep 17, 2026
7Partial evidenceBridgewater Township, NJ, United StatesHQ checked Sep 17, 20261,001-5,0001,512 contacts →

Partial evidence

“Insmed is a people-rst global biopharmaceutical company striving to deliver rst- and best-in-class therapies to transform the lives of patients facing serious diseases.”

Source: RevenueBase Database · checked Sep 17, 2026
8Strong evidenceCambridge, MA, United StatesHQ checked Sep 17, 2026501-1,0001,359 contacts →

Strong evidence

“Sarepta Therapeutics, headquartered in Cambridge, Massachusetts, is a global biotechnology company on an urgent mission: engineer precision genetic medicine for rare diseases that…”

Source: RevenueBase Database · checked Sep 17, 2026
9Strong evidenceWarren, NJ, United StatesHQ checked Sep 17, 2026501-1,0001,212 contacts →

Strong evidence

“PTC is a patient-centered biopharmaceutical company focused on discovering, developing & commercializing medicine for children and adults living with rare and serious disease.”

Source: RevenueBase Database · checked Sep 17, 2026
10Indirect evidencePalo Alto, CA, United StatesHQ checked Sep 17, 2026501-1,000837 contacts →

Indirect evidence

“We exist to bring transformative medicines to people living with genetic conditions.”

Source: RevenueBase Database · checked Sep 17, 2026
11Strong evidenceLondon, United KingdomHQ checked Sep 17, 2026501-1,000709 contacts →

Strong evidence

“Partner of choice in specialty, hospital, and rare disease medicines ADVANZ PHARMA is a global pharmaceutical company with the purpose to improve patients’ lives by providing the…”

Source: RevenueBase Database · checked Sep 17, 2026
12Partial evidencePasadena, CA, United StatesHQ checked Sep 17, 2026501-1,000657 contacts →

Partial evidence

“Arrowhead Pharmaceuticals is a clinical stage, Nasdaq listed (ticker ARWR) company developing medicines that treat intractable diseases by silencing the genes that cause them.”

Source: RevenueBase Database · checked Sep 17, 2026
13Indirect evidencePrinceton, NJ, United StatesHQ checked Sep 17, 2026501-1,000625 contacts →

Indirect evidence

“ANI Pharmaceuticals, Inc.(Nasdaq: ANIP) is a diversified biopharmaceutical company committed to its mission of “Serving Patients, Improving Lives" by developing, manufacturing…”

Source: RevenueBase Database · checked Sep 17, 2026
14Strong evidenceCambridge, MA, United StatesHQ checked Sep 17, 2026501-1,000603 contacts →

Strong evidence

“Agios is a commercial-stage biopharmaceutical company dedicated to redefining the future of rare disease treatment.”

Source: RevenueBase Database · checked Sep 17, 2026
15Strong evidenceSan Diego, CA, United StatesHQ checked Sep 17, 2026201-500491 contacts →

Strong evidence

“Our mission is to identify, develop and deliver life-changing therapies to people living with rare disease.#InRareForLife Community Guidelines…”

Source: RevenueBase Database · checked Sep 17, 2026
16Indirect evidenceColumbus, OH, United StatesHQ checked Sep 17, 2026201-500456 contacts →

Indirect evidence

“Forge, a member of Ajinomoto Bio-Pharma Services, is a gene therapy development engine, focused on enabling access to life changing gene therapies and helping bring them from idea…”

Source: RevenueBase Database · checked Sep 17, 2026
17Indirect evidenceMaple Grove, MN, United StatesHQ checked Sep 17, 202651-200395 contacts →

Indirect evidence

“Upsher‑Smith is the commercial arm of the Bora Group, focused on developing, marketing, and distributing pharmaceutical products that make a real difference for patients.”

Source: RevenueBase Database · checked Sep 17, 2026
18Indirect evidenceStamford, CT, United StatesHQ checked Sep 17, 2026201-500392 contacts →

Indirect evidence

“SpringWorks Therapeutics, a healthcare company of Merck KGaA, Darmstadt, Germany, is a commercial-stage biopharmaceutical company dedicated to improving the lives of patients with…”

Source: RevenueBase Database · checked Sep 17, 2026
19Strong evidenceFoster City, CA, United StatesHQ checked Sep 17, 2026201-500374 contacts →

Strong evidence

“Mirum Pharmaceuticals is a leading rare disease company with a global footprint of approved products and a broad pipeline of investigational medicines.”

Source: RevenueBase Database · checked Sep 17, 2026
20Indirect evidenceParis, FranceHQ checked Sep 17, 2026501-1,000368 contacts →

Indirect evidence

“Critical needs.”

Source: RevenueBase Database · checked Sep 17, 2026
21Partial evidenceLexington, MA, United StatesHQ checked Sep 17, 2026201-500365 contacts →

Partial evidence

“Kiniksa is a biopharmaceutical company dedicated to improving the lives of patients suffering from debilitating diseases by discovering, acquiring, developing, and commercializing…”

Source: RevenueBase Database · checked Sep 17, 2026
22Partial evidenceWaltham, MA, United StatesHQ checked Sep 17, 2026201-500326 contacts →

Partial evidence

“Sobi is an international specialty healthcare company dedicated to developing treatments and extensive patient support networks for people with rare and difficult to treat…”

Source: RevenueBase Database · checked Sep 17, 2026
23Indirect evidenceAnn Arbor, MI, United StatesHQ checked Sep 17, 2026201-500313 contacts →

Indirect evidence

Source: RevenueBase Database · checked Sep 17, 2026
24Partial evidencePittsburgh, PA, United StatesHQ checked Sep 17, 2026201-500300 contacts →

Partial evidence

“A commercial-stage biotechnology company focused on the discovery, development and commercialization of genetic medicines for high unmet medical needs.”

Source: RevenueBase Database · checked Sep 17, 2026
25Indirect evidenceÉvry, FranceHQ checked Sep 17, 2026201-500293 contacts →

Indirect evidence

“Généthon est un laboratoire à but non lucratif, créé et soutenu par l’AFM-Téléthon depuis 1990.”

Source: RevenueBase Database · checked Sep 17, 2026

Showing 25 of 383 rare disease biotech companies worldwide

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Rare disease biotech companies worldwide at a glance

As of Sep 17, 2026
54.5%Verified-email coverage
196.1Average contacts per company
11-50Median size (employees)
5.0%Largest-city concentration · Boston
Sep 17, 2026Page data refreshed

Companies by employee count

1-10
150
11-50
113
51-200
65
201-500
30
501-1,000
13
1,001-5,000
7
5,001-10,000
2
10001+
2

How this list was built

Company categories are rarely black and white. RevenueBase reads each company's own description of its business to decide whether it belongs among rare disease biotech companies, so some rows will be adjacent to the category rather than pure plays. The description and RevenueBase Smart Search rating on every row are there so you can check each match yourself.

Source
The RevenueBase company graph: 60 million companies and 398.9 million professional contacts resolved from primary sources, queried with RevenueBase Smart Search, the natural-language company search available to every RevenueBase user.
Coverage
3 countries, largest first: the United States, France, the United Kingdom. Country and city lists for rare disease biotech companies are linked below.
What qualifies
Companies worldwide whose own description of what they do matches “rare disease biotech companies”. Matching reads each company's description, not its industry code or its name.
RevenueBase Smart Search
RevenueBase Smart Search is how this list is assembled and how each row is rated. RevenueBase's data engine and AI assess a company's LinkedIn profile, information supplied directly by the company, its website and other publicly available information, then relate it to a category defined in a user's own words. Each row is rated strong evidence (its own description names rare disease biotech companies), partial evidence (it names part of the category) or indirect evidence (the description shown names none of it and the match rests on the rest of the company's profile). The description supporting each rating is quoted on the row.
What we exclude
Companies whose own description does not clearly place them among rare disease biotech companies, and records with no verified work email.
Match quality
In blind human judging of this matching method, 86% of matched companies were on target. Expect roughly 1 in 7 rows to be adjacent to the category rather than a pure play. Every row shows the company's own description and its RevenueBase Smart Search rating so you can judge each match yourself. Read the full methodology: how the lists are built, how the judging worked, and what the figure means.
Ranking
Team size, largest first: companies are ordered by the number of professionals RevenueBase tracks at each one. Employee ranges shown are reported bands, for context.
Verification
Every listed company carries at least one verified work email, 40,909 across the full list. Contacts re-verify on a rolling cadence, and each contact's own verification date is shown inside RevenueBase.
Refresh
This page's figures were pulled from the company graph on September 17, 2026. Lists refresh periodically as the graph is re-checked.
Corrections
Wrong category, wrong headquarters, or a company that has closed? Use “Report an issue” on any row. Reports go to the RevenueBase Data Team and feed back into the company graph.

Rare disease biotech companies by location

3 lists · largest first

Every Rare disease biotech companies list RevenueBase publishes, by country and city. Counts are matching companies in each list as of its own refresh date.

Countries

Frequently asked

What is RevenueBase Smart Search?

RevenueBase Smart Search is how RevenueBase decides which companies belong on this list and how strongly each one fits. Its data engine and AI assess a company's LinkedIn profile, information supplied directly by the company, its website and other publicly available information, then relate it to the category the list is about. Each row is rated strong evidence when the company's own description names rare disease biotech companies, partial evidence when it names part of the category, and indirect evidence when the description shown names none of it and the match rests on the rest of the company's profile.

How many rare disease biotech companies are there worldwide?

RevenueBase identified 383 rare disease biotech companies worldwide as of September 2026, matched on each company's own description of what it does rather than its industry code.

What is the largest company on this list?

Genentech, headquartered in South San Francisco, tops this list with the largest team on record.

Which country has the most rare disease biotech companies?

The United States leads with 318 companies, followed by France (36) and the United Kingdom (29). Every rare disease biotech companies list by country and city is linked on this page.

Which city has the most rare disease biotech companies?

Boston leads with 19 headquartered companies, followed by New York (19) and Cambridge (15).

How do I get contact information for these companies?

A free RevenueBase account lets you run this exact search and work the top results, verified emails and direct dials included. Upgrading unlocks all 40,909 verified decision-maker contacts tracked across these 383 companies.

How current is this list?

The list refreshes periodically as the company graph is re-checked. This page's figures were pulled on September 17, 2026.

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About this data

RevenueBase is a B2B data infrastructure company. Its company graph covers 60 million companies and 398.9 million professional contacts, with emails verified on a rolling cadence rather than scraped once and left to decay. These company lists are generated directly from that graph with RevenueBase Smart Search, the same natural-language company search every RevenueBase user has: describe a market in plain words, get the companies that match, and add verified emails and direct dials for the people at them. It is the same data that powers RevenueBase's B2B data products, and a free account includes 500 credits to start. How these lists are built and judged.