Market map · Worldwide

Rare disease market map

70 rare disease startups worldwide that have raised money in rounds we track, placed in 5 segments by what each says it does. Together they have raised $5.0B; the biggest segment is other rare disease therapies, with 40 companies.

70startups on the map
5segments
$5.0Braised between them
Other rare disease therapiesmost funded segment

Other rare disease therapies

40

+16 more

Small molecules and biologics

11

Gene therapies

8

Diagnosis and genomics

8

RNA and oligonucleotides

3

Segment by segment

Other rare disease therapies

40 startups · $3.5B raised

  1. Ultragenyx PharmaceuticalUltragenyx Pharmaceutical focuses on the development of various products for the treatment of rare and ultra-rare diseases.United States$535M
  2. SpringWorks TherapeuticsSpringWorks Therapeutics is a biopharmaceutical company that develops medicines for patients with severe rare diseases and cancer.United States$400M
  3. Fulcrum TherapeuticsFulcrum Therapeutics is a biotechnology company that focuses on identifying and treating rare genetic diseases at their root cause.United States$310M
  4. GondolaBioGondolaBio is a clinical-stage biopharmaceutical company based in Palo Alto, California.United States$300M
  5. Palvella TherapeuticsPalvella Therapeutics is a clinical-stage biopharmaceutical company based in Wayne, Pennsylvania.United States$210M
  6. Beren TherapeuticsBeren Therapeutics P.B.C.United States$165M
  7. GlycomineGlycomine is an early-stage biotech working on replacement therapies for rare diseases.United States$160M
  8. Quercis PharmaQuercis Pharma is a biopharmaceutical company that brings innovative and safe medicine to patients with orphan diseases.Switzerland$150M

Small molecules and biologics

11 startups · $1.2B raised

  1. OMass TherapeuticsOMass Therapeutics is a biotechnology company located in Oxford, UK, focused on discovering and developing novel small molecule meUnited Kingdom$442M
  2. Star TherapeuticsStar Therapeutics is a clinical-stage biotechnology company based in South San Francisco, California, founded in 2018.United States$325M
  3. Sidewinder TherapeuticsSidewinder Therapeutics is a biotechnology company that offers life-saving therapies for cancer and rare diseases.United States$137M
  4. Aardvark TherapeuticsAardvark Therapeutics specializes in small molecule therapeutics for obesity and rare genetic metabolic disorders.United States$85M
  5. Atavistik BioAtavistik Bio is a biotechnology company based in Cambridge, Massachusetts, founded in 2021.United States$80M
  6. Aeovian PharmaceuticalsAeovian Pharmaceuticals, Inc.United States$55M
  7. Allena PharmaceuticalsAllena Pharmaceuticals develops and commercializes non-systemic protein therapeutics to treat metabolic and orphan diseases.United States$43M
  8. ImmusoftImmusoft is a biotechnology company that develops novel cell therapies for therapeutic protein delivery for rare diseases.United States$29M

Gene therapies

8 startups · $259M raised

  1. Vivet TherapeuticsVivet Therapeutics is a biotechnology company developing gene therapy treatments for orphan diseases.France$96M
  2. AvrobioAvrobio is a clinical stage company developing step-change cell and gene therapies targeting cancer and rare disease.United States$85M
  3. GEMMABioGEMMABio is a therapeutics company that develops gene therapies for individuals living with rare diseases.United States$34M
  4. Aurora TherapeuticsAurora Therapeutics is a biotechnology company based in Cambridge, Massachusetts, specializing in personalized gene editing for raUnited States$16M
  5. AAAVLifeWildlife engages in developing gene therapy for the treatment of rare diseases.France$12M
  6. Arctos MedicalArctos Medical is a developed gene therapy that does not correct rare genetic eye diseases but much more common cases of blindness.-$8.2M
  7. Alia TherapeuticsAlia Therapeutics is an innovative biotechnology company based in Trento, Italy, founded in October 2018.Italy$4.8M
  8. BlackfinBioBlackfinBio is a biotechnology company based in the UK and a spinout from the University of Sheffield.United Kingdom$3.5M

Diagnosis and genomics

8 startups · $18M raised

  1. GenomeUpDigital biotech startup offers an ecosystem of AI-powered solutions for genetic analysis and clinical decision support for rare diItaly$4.9M
  2. SeqOneSeqOne is a biotechnology company based in Montpellier, France, founded in 2017.France$3.4M
  3. AffinergyAffinergy is a biotechnology company based in Research Triangle Park, North Carolina, founded in 2003.United States$3.0M
  4. Saventic HealthSaventic Health is a med-tech company based in Toruń, Poland, founded in 2019 by Szymon Piątkowski and Professor Grzegorz Basak.Poland$2.1M
  5. MendelianMendelian is helping doctors diagnose rare genetic diseases faster.United Kingdom$1.7M
  6. gMendelgMendel is a medical technology company based in Denmark, founded in 2020.Denmark$1.4M
  7. RareSumRareSum is an Istanbul-based company that specializes in AI-powered decision support platforms for diagnosing and managing rare diseases.Türkiye$670K
  8. Constantiam BiosciencesPreclinical biotech with deep expertise in functional genomics to map genetic variants and advance a rare disease pipeline led by CB-001.United States$485K

RNA and oligonucleotides

3 startups · $40M raised

  1. PPhaseRxPhaseRx is a startup company focused on the delivery of siRNA and other macromolecular therapeutics for the treatment of orphan diseases.United States$27M
  2. Vico TherapeuticsVico Therapeutics is a clinical-stage genetic medicines company based in Leiden, the Netherlands.Netherlands$12M
  3. Amylon TherapeuticsAmylon Therapeutics is a biotechnology company based in the Netherlands, with a presence in Cambridge, Massachusetts.Netherlands$349K

How this map is made. Every startup here has raised money in rounds we track. It joins the map when its sectors, read from its rounds, or the opening of its own description say it works in rare disease, and goes to the first segment whose words it carries. Each segment shows its best-funded first. Rebuilt nightly; updated 15 November 2026.

More market maps

All maps
Investors mapWho invests in rare disease37 investors · 3 segmentsMarket map · United StatesRare disease market map: United States36 startups · 3 segments · $3.8BMarket map · EuropeRare disease market map: Europe19 startups · 3 segments · $695MMarket mapMarketing tech market map1,963 startups · 7 segments · $41BMarket mapFintech market map1,633 startups · 8 segments · $139BMarket mapCrypto and Web3 market map1,297 startups · 8 segments · $33B

Who backs rare disease?

Open any company for its rounds and investors, or search the investors behind these startups in the app, with filters, lists and exports.

Find their investorsTop lists