Best Rare Diseases Companies in Massachusetts, United States
The 83 best Rare Diseases companies in Massachusetts, United States in 2026, ranked by funding and momentum. Funding, investors, founders, valuation, tech stack and live signals. Top: Generation Bio.
Ranked: Best Rare Diseases companies in Massachusetts
| # | Company | Disclosed funding | Last round | Employees | Founder | Tech stack | Patents & IP focus | Recent signals |
|---|---|---|---|---|---|---|---|---|
| 1 | Generation Bio Developer of gene therapies for rare liver and eye diseases | $236M | 77 mo ago | 155 | Phillip Samayoa Co-Founder and Chief Strategy Officer | DrupalApple iCloud MailPHP+20 | 447 patents Non‑viral gene delivery platforms: synthetic AAV vectors, polyglycerol lipid nanoparticles, cell‑free DNA synthesis | — |
| 2 | Astria Therapeutics Developer of therapeutics for rare diseases | $229M | 64 mo ago | 59 | Jill Milne Founder and CEO | WordPressApple iCloud MailMySQL+20 | — | — |
| 3 | Cyclerion Developer of therapies for treating sickle cell disease and diabetic nephropathy | $217M | 60 mo ago | 32 | — | DrupalPHPAmazon Web Services+20 | — | — |
| 4 | Editas Medicine Developer of therapeutics for rare genetic diseases | $210M | 29 mo ago | 257 257 → 183 (-29%) · sector median +53% | Cynthia Collins Ex-CEO & President | DrupalPHPBootstrap+25 | 713 patents CRISPR-based gene editing therapeutics for blood disorders and immune cell engineering | — |
| 5 | Entrada Therapeutics Developer of the biologics-based platform to treat rare diseases | $175M | 62 mo ago | 122 122 → 202 (+66%) · sector median +53% | Dipal Doshi CEO & President | Craft CMSApple iCloud MailPHP+20 | — | — |
| 6 | Goldfinch Developer of precision therapies for the treatment of genetic kidney disease | $157M | 71 mo ago | 68 | — | — | 12 patents Multispectral/hyperspectral imaging systems for meat quality and composition analysis | — |
| 7 | Casma Therapeutics Developer of therapies for treating rare genetic disorders 40Funding top 20%Product top 30%Innovation top 38%Moat top 48% All 9 signals ▾Fundingtop 20% Producttop 30% Innovationtop 38% Moattop 48% Marketbottom 48% Growthbottom 41% Globalbottom 37% Newsbottom 22% Techbottom 21% Funding: Raised $154M across 4 rounds · 4 rounds over 8 yrs (0.5/yr) Product: 3 distinct product lines · Company stage: Series C rank vs industry peers · Fliar Intelligence Index 40/100 | $154M | 3 mo ago | 38 | — | — | — | — |
| 8 | QurAlis Developing drugs & CSF cartridge device for treating amyotrophic lateral sclerosis (ALS) 64Funding top 20%Patents top 23%Innovation top 25%Growth top 26% All 10 signals ▾Fundingtop 20% Patentstop 23% Innovationtop 25% Growthtop 26% Moattop 32% Talenttop 41% Techbottom 43% Globalbottom 42% Marketbottom 36% Newsbottom 22% Funding: Raised $144M across 7 rounds · 7 rounds over 8 yrs (0.9/yr) Patents: 69 patents matched (strict assignee match) · 62 filings since 2022 vs 7 in 2017-21 rank vs industry peers · Fliar Intelligence Index 64/100 | $144M | 10 mo ago | 38 38 → 87 (+129%) · sector median +53% | Kasper Roet Founder & CEO | WordPressApple iCloud MailMicrosoft 365+17 | 69 patents Antisense oligonucleotide therapeutics targeting UNC13A for neurological disease treatment | — |
| 9 | Translate Bio Developer of RNA therapeutics to activate therapeutic protein expression | $138M | 72 mo ago | 209 | — | — | — | — |
| 10 | Bluebird Bio Developer of gene therapies for severe genetic and rare diseases | $136M | 48 mo ago | 508 508 → 312 (-39%) · sector median +53% | — | DrupalApple iCloud MailPHP+35 | 631 patents Gene and cell therapy vectors, genome editing, and CAR‑T for blood disorders | — |
| 11 | City Therapeutics Developer of gene therapies for multiple diseases | $135M | 20 mo ago | — | John Maraganore Co-Founder | Cart FunctionalitySquarespace CommerceSquarespace+19 | — | — |
| 12 | Diagonal Therapeutics Developer of antibody therapeutics for the treatment of rare diseases 40Funding top 19%Moat top 42%Talent bottom 49%Market bottom 40% All 5 signals ▾Fundingtop 19% Moattop 42% Talentbottom 49% Marketbottom 40% Globalbottom 38% Funding: Raised $128M across 2 rounds · 2 rounds over 2 yrs (1.0/yr) Moat: Editorial + unicorn rating 5/10 · Soonicorn rank vs industry peers · Fliar Intelligence Index 40/100 | $128M | 5 mo ago | — | Alexey Lugovskoy CEO | — | — | — |
| 13 | Civitas Therapeutics Pulmonary delivery therapies for relief from intermittent debilitating motor fluctuations | $128M | 141 mo ago | 53 | — | — | 300 patents Pulmonary delivery of powdered therapeutics, especially surfactant and CNS drug formulations | — |
| 14 | Synageva Developer of enzyme replacement therapies for rare diseases | $128M | 183 mo ago | 72 | Sanj Patel Founder & CEO | — | — | — |
| 15 | Homology Medicines Developer of gene therapies for rare genetic diseases | $127M | 67 mo ago | 221 | Frank Mathias CEO | — | 162 patents Engineering AAV gene therapy vectors and capsids for liver‑detargeted PAH restoration | — |
| 16 | Agios Pharmaceuticals Developer of therapeutics in the field of cancer metabolism and rare genetic disorders of metabolism | $120M | 104 mo ago | 383 383 → 643 (+68%) · sector median +53% | — | DrupalApple iCloud MailPHP+25 | 1,395 patents Metabolic enzyme modulators for hematologic and metabolic disease therapy | — |
| 17 | Dimension Therapeutics Provider of gene therapy for rare diseases | $120M | 134 mo ago | 53 | — | — | — | — |
| 18 | Biopure Mold remediation, water damage restoration, and infectious disease control services | $119M | 151 mo ago | — | Zafiris Zafirelis CEO | — | 40 patents Developing and stabilizing hemoglobin-based blood substitutes and red cell purification technologies. | — |
| 19 | Inozyme Pharma Developer of treatments for rare and debilitating metabolic diseases | $116M | 86 mo ago | 59 | Axel Bolte Co-Founder & CEO | DrupalApple iCloud MailPHP+24 | — | — |
| 20 | Kala Pharmaceuticals Developer of ophthalmic treatments based on its mucosal penetrating product platform 45Funding top 22%Product top 24%Talent top 33%News top 34% All 12 signals ▾Fundingtop 22% Producttop 24% Talenttop 33% Newstop 34% Moattop 35% Patentstop 37% Innovationtop 41% Techbottom 49% Marketbottom 42% Growthbottom 42% Globalbottom 40% Fin. healthbottom 36% Funding: Raised $115M across 14 rounds · 14 rounds over 17 yrs (0.8/yr) Product: 2 distinct product lines · Company stage: Public rank vs industry peers · Fliar Intelligence Index 45/100 | $115M | 3 mo ago | 34 34 → 80 (+135%) · sector median +53% | Justin Hanes Co-Founder | DrupalApple iCloud MailPHP+20 | 267 patents Ocular drug formulations, crystalline therapeutics, and mucosal nanoparticle delivery systems. | — |
| 21 | Fulcrum Therapeutics Developing small molecules for control mechanisms and genes regulation for the treatment of rare diseases | $115M | 72 mo ago | 104 104 → 65 (-38%) · sector median +53% | Robert Gould CEO | — | — | — |
| 22 | Sigilon Developer of therapeutics to treat chronic diseases | $104M | 75 mo ago | 66 | Omid Veiseh Co-Founder | — | — | — |
| 23 | Zafgen Health and wellness resource providing information on products and health topics | $101M | 146 mo ago | 7 | — | — | 364 patents Design and synthesis of MetAP-2 inhibitory small‑molecule pharmaceuticals for metabolic disease | — |
| 24 | Dianthus Therapeutics Developer of antibody therapeutics to treat rare autoimmune diseases | $100M | 50 mo ago | 27 | Marino Garcia President & Chief Executive Officer | WordPressApple iCloud MailMySQL+21 | — | 1 job opening · 1 launch |
| 25 | Stealth BioTherapeutics Developer of peptide therapy to treat rare mitochondrial diseases and its dysfunction-related disorders | $100M | 74 mo ago | 31 31 → 75 (+142%) · sector median +53% | Reenie McCarthy CEO | WordPressApple iCloud MailMySQL+21 | 291 patents Peptide-based therapeutics for neurodegenerative, cardiac, and rare genetic disease treatment | 1 award |
| 26 | X4 Pharmaceuticals Developer of small molecule drugs for the treatment of cancer | $98M | 10 mo ago | 70 70 → 79 (+13%) · sector median +53% | — | DrupalApple iCloud MailPHP+25 | 437 patents Immunomodulatory small‑molecule drugs targeting CXCR4/CXCR2, BTK, IL‑6 and complement pathways. | — |
| 27 | Apic Bio Developer of gene therapies for rare diseases | $97M | 51 mo ago | 30 | Christian Mueller Co-Founder and Board Member | — | — | — |
| 28 | Imara Small molecules to treat rare blood diseases such as sickle cell disease | $94M | 87 mo ago | 41 | Rahul Ballal CEO | — | 76 patents Pharmaceutical PDE9 inhibitor compounds, crystalline forms, and related formulation methods. | — |
| 29 | Cydan Online platform providing Togel Hongkong results, data, and live draws | $91M | 104 mo ago | 7 | — | — | — | — |
| 30 | AIRNA Developer of gene therapies for rare and common diseases | $90M | 14 mo ago | — | Jin Li Co-Founder | WordPress Block EditorWordPressApple iCloud Mail+26 | 6 patents RNA editing using chemically modified antisense oligonucleotides and targeted delivery | — |
| 31 | Avrobio Developer of gene therapies to treat genetic diseases | $85M | 100 mo ago | 114 | — | — | 42 patents Enzyme replacement and gene therapies for lysosomal storage and neurodegenerative diseases | — |
| 32 | rhythm pharmaceuticals Rhythm is a biopharmaceutical company focused on developing and commercializing peptide therapeutics | $84M | 26 mo ago | 177 | — | WordPressApple iCloud MailMicrosoft 365+29 | 193 patents Develops MC4R agonist therapeutics and sustained‑release peptide formulations for obesity treatment. | — |
| 33 | WAVE Life Sciences RNA medicines to transform human health, treating rare and common disorders | $84M | 130 mo ago | 233 233 → 381 (+64%) · sector median +53% | Paul Bolno President and CEO | WordPressApple iCloud MailAddsearch+22 | 128 patents Therapeutic oligonucleotides for RNA interference, exon skipping, and gene modulation. | 1 launch · 1 partnership |
| 34 | Tisento Therapeutics Developer of therapeutics for the treatment of rare genetic diseases | $81M | 34 mo ago | — | Peter Hecht CEO | Cart FunctionalitySquarespace CommerceSquarespace+16 | — | — |
| 35 | Ra Pharmaceuticals Developing complement system inhibitors (peptides) for rare diseases. | $77M | 131 mo ago | 92 | — | — | 437 patents Small‑molecule modulators of CXCR4/CXCR2, Btk, IL‑6 and complement pathways | — |
| 36 | Cogent Biosciences Developer of precision therapy for genetically defined diseases | $77M | 28 mo ago | 164 164 → 294 (+79%) · sector median +53% | Charles Wilson Founder & CEO | WordPress Block EditorElementorWordPress+23 | 40 patents Small-molecule kinase inhibitors for oncology (PI3K, HER2/ERBB2, JAK2 V617F) | — |
| 37 | Pretzel Developer of therapeutics to treat rare genetic disorders and mitochondrial dysfunction | $72M | 45 mo ago | 5 | Paul Thurk Co-Founder | WordPressApple iCloud MailMySQL+16 | — | 1 job opening |
| 38 | Syntonix Pharmaceuticals Therapeutic proteins for treatment of chronic diseases such as hemophilia | $64M | — | — | James C Mullen CEO | — | 125 patents Recombinant Fc-fusion clotting factors and engineered immunoglobulin therapeutics | — |
| 39 | LogicBio Developer of viral vectors for the treatment of genetic and infectious diseases | $49M | 83 mo ago | 62 | Adi Barzel Founder | — | — | — |
| 40 | NFlection Developer of targeted topical therapies for rare disorders | $45M | 35 mo ago | 6 | Scott Plotkin Co-Founder | — | — | — |
| 41 | Mitobridge Small molecule drugs for mitochondrial dysfunction | $45M | 152 mo ago | 28 | Kazumi Shiosaki Founder & CEO | — | 290 patents Small‑molecule therapeutics for metabolic (PPAR) and DNA repair (PARP) targets. | — |
| 42 | Gemini Therapeutics Developer of precision therapeutics for dry AMD and rare genetic diseases | $45M | 104 mo ago | 45 | — | — | — | — |
| 43 | Myrtelle Developer of gene therapies for the treatment of neurological diseases 35Funding top 31%Growth top 35%Moat top 45%Patents top 49% All 9 signals ▾Fundingtop 31% Growthtop 35% Moattop 45% Patentstop 49% Talentbottom 49% Innovationbottom 47% Techbottom 41% Globalbottom 37% Marketbottom 22% Funding: Raised $44.1M across 3 rounds · 3 rounds over 2 yrs (1.5/yr) Growth: Fresh capital in last 24 mo rank vs industry peers · Fliar Intelligence Index 35/100 | $44M | 6 mo ago | 12 12 → 11 (-8%) · sector median +53% | Mark Pykett CEO | WordPressMySQLPHP+20 | 4 patents Therapeutic agents targeting myelin repair and neurodegenerative disease treatment | — |
| 44 | Sarepta Developer of RNA-targeted therapeutics for the treatment of rare and infectious diseases | $40M | 75 mo ago | 820 820 → 1,163 (+42%) · sector median +53% | — | DrupalApple iCloud MailPHP+25 | — | 1 internship · 2 awards |
| 45 | Synlogic Therapeutics Developer of drugs using engineered microbes | $34M | 84 mo ago | 85 | James Collins Co-Founder | — | — | — |
| 46 | hC Bioscience Developer of RNA-based therapeutics to treat cancer and rare diseases | $24M | 54 mo ago | 31 | Leslie Williams Co-Founder & CEO | — | 102 patents Patents concentrated in health & consumer products | — |
| 47 | Alnylam Developer of RNA interference-based therapeutics for multiple disorders | $17M | 70 mo ago | 2,100 2,100 → 2,892 (+38%) · sector median +53% | Paul Schimmel Co-Founder | DrupalApple iCloud MailMariaDB+32 | — | — |
| 48 | IMEL Developer of cell-based therapies to treat mitochondrial disorders | $15M | 55 mo ago | 5 | Silvia Noiman Founder & CEO | — | — | — |
| 49 | Modulight Biotherapeutics Developer of an optogenetic platform targeting pathological neural activity to restore balance | $12M | 7 mo ago | — | Ofer Yizhar Co-Founder & CSO | — | — | — |
| 50 | Hunterian Provider of gene-editing platform based on CRISPR delivery technology | $8M | 16 mo ago | 6 | Vinod Ranga Founder & CEO | — | — | — |
Top 12 Rare Diseases companies in Massachusetts
#1
Series C · Cambridge, Massachusetts · founded 2017 · 38 employees$154.5Mraised▾
Casma Therapeutics is developing therapies for treating rare genetic disorders. They are focused on autophagy of rare genetic diseases which helps in restoring cellular balance and reversing the course of the disease. The technology enables initiation, the formation of the autophagosome, fusion with lysosomes, and lysosomal biogenesis.
- Mar 2026Grant (prize money)$7.6M
- Nov 2022Series C$46M
- Sep 2020Series B$50M
- May 2018Series A$58.5M
#2
Public · Waltham, Massachusetts · founded 2009 · 34 employees$115.5Mraised▾
Developer of ophthalmic treatments based on its mucosal penetrating product platform. It offers therapies for severe ophthalmic diseases. The company’s MPP drug delivery technology platform allows therapeutic agents to pass through the mucus layer(tears) of the ocular surface, facilitating penetration into deeper tissues of the eye, including the aqueous humor and retina. Its solutions are used in treating severe ophthalmic diseases, including ocular inflammation and wet age-related macular degeneration. Its drug pipeline includes KPI-121, an ophthalmic MPP suspension in development for the treatment of post-surgical inflammation , dry eye , meibomian gland disease. Also developing MPP based topical drugs for AMD (orphan indication). It has applications in the treatment of both anterior and posterior chamber eye diseases.
- Mar 2026Post IPO$1.8M
- Jan 2026Post IPO$2.3M
- Dec 2024Post IPO$10.8M
- Jun 2024Post IPO$12.5M
#3
Series B · Cambridge, Massachusetts · founded 2022$128Mraised▾
Developer of antibody therapeutics for the treatment of rare diseases. The company's DIAGONAL platform combines proprietary computational and experimental techniques to develop agonist antibody therapies for hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension.
- Jan 2026Series B$125M
- Apr 2024Series A$128M
#4
Series B · Cambridge, Massachusetts · founded 2016 · 38 employees$143.5Mraised▾
QurAlis is engaged in discovering and developing new therapies for amyotrophic lateral sclerosis (ALS), which is a common form of motor neuron disease. The company has developed Optopatch technology which helps in stimulating the neurons and notes their electrical behavior. Their proprietary method clears toxic proteins and transcranial magnetic stimulation helps in diagnosing ALS by identifying biomarkers such as protein in the blood. In addition, other therapeutic targets like nerve threshold tracking, proteins in the cerebral spinal fluid helps to predict ALS. The company has a preclinical-stage program for ALS drugs targeting the Kv7.2/7.3 channel & CSF cartridge device to remove DPR proteins.
- Aug 2025Series B$20M
- Mar 2023Series B$88M
- Sep 2022Grant (prize money)$300K
- Jul 2020Grant (prize money)$107.4K
#5
Series C · Wakefield, Massachusetts · founded 2021 · 12 employees$44.1Mraised▾
Developer of gene therapies for the treatment of neurological diseases. The company's lead program is a novel investigational gene therapy treatment for Canavan disease. It is developing a vector, called rAAV-Olig001-ASPA to deliver a therapeutic ASPA gene directly to the oligodendrocyte cells that are responsible for producing myelin to restore the ability of oligodendrocytes to make the ASPA enzyme on their own.
- Dec 2025Series C$30.5M
- Mar 2025Conventional Debt$7.5M
- May 2024Conventional Debt$6M
#6
Public · Boston, Massachusetts · founded 2014 · 70 employees$98.2Mraised▾
Developer of small molecule drugs for the treatment of cancer. The company's therapeutics are designed to improve immune cell trafficking and increase the ability for T-cells to track and destroy cancer cells. The company's small molecule drug candidate includes X4P-001 that inhibits C-X-C receptor type 4, a receptor overexpressed in many cancers. It is also used for the treatment of rare genetic disorders. The company's second program, X4P-002, for the treatment of brain cancers, including glioblastoma multiforme.
- Aug 2025Post IPO$85M
- May 2023Post IPO$65M
- Sep 2018Post IPO$35M
- Sep 2018Post IPO$5M
#7
Series B · Cambridge, Massachusetts · founded 2021$90Mraised▾
Developer of gene therapies for rare and common diseases. It offers RNA editing therapeutics based on a platform RESTORE+ to treat the inherited genetic disease alpha-1 antitrypsin deficiency (AATD).
- Apr 2025Series B$155M
- Jul 2024Series A$60M
- Sep 2023Series A$30M
#8
Seed · Boston, Massachusetts · founded 2022$12.2Mraised▾
Developer of an optogenetic platform targeting pathological neural activity to restore balance. The platform precisely targets pathological neural activity when and where it occurs. It aims to restore equilibrium within the nervous system through targeted intervention.
- Nov 2025Seed$12.2M
#9
Series A · Cambridge, Massachusetts · founded 2006$135Mraised▾
Developer of gene therapies for multiple diseases. It offers RNAi therapeutics based on next-generation engineering of small interfering RNAs for patients across multiple disease indications.
- Oct 2024Series A$135M
#10
Series A · Cambridge, Massachusetts · founded 2004 · 6 employees$8.1Mraised▾
Provider of gene-editing platform based on CRISPR delivery technology. The company offers proprietary CRISPR delivery technology through a single adeno-associated virus (AAV) to cure genetic diseases by changing DNA mutations. They use a two-for-one genetic control element to overcome the problem of delivering CRISPR through AAV. Mutations in skeletal and cardiac muscle, lungs, brain, and other tissues can be diagnosed using CRISPR technology.
- Feb 2025Grant (prize money)$350K
- Jan 2025Grant (prize money)$320K
- Sep 2023Grant (prize money)$350K
- Aug 2022Grant (prize money)$320K
#11
Public · Cambridge, Massachusetts · founded 2013 · 257 employees$210Mraised▾
Developer of therapeutics for rare genetic diseases. It has developed a novel class of genome editing therapeutics using CRISPR/Cas genome editing technology. It is utilized for the treatment of rare genetic eye diseases including Leber congenital amaurosis, and usher syndrome. It is also used for the treatment of beta-thalassemia,& Duchenne muscular dystrophy, sickle cell anemia, cystic fibrosis, alpha 1-antitrypsin deficiency, and many more.
- Dec 2023Post IPO$2M
- Aug 2015Series B$120M
- Jul 2015Grant (prize money)$220.4K
- May 2015PE$47M
#12
Public · Cambridge, Massachusetts · founded 2014 · 164 employees$77Mraised▾
Cogent Biosciences is a developer of precision therapy for treating diseases like cancer, rare diseases, autoimmune conditions & others. The company is developing solutions to treat genetically driven diseases & its lead therapeutic product PLX9486 is a precision kinase inhibitor designed to selectively and potently inhibit the KIT D816V mutation. It is also developing PLX9486 to treat gastrointestinal stromal tumors (GIST) which is dependent on oncogenic KIT signaling.
- Feb 2024Post IPO—
- Jul 2020Post IPO$104.4M
- Mar 2020Post IPO$25M
- Mar 2017Venture Debt$15M
Funding & investor landscape
Notable founders
Market landscape — 10 sub-themes by coverage
Share of Rare Diseases coverage by sub-theme.
Regulatory-risk over time rising
Funding & growth over time
funding rising · growth rising
Common questions
Riya reads income statements for fun. She covers the real money in a sector — revenue, growth, who actually earns — and never met a vague claim she didn't want a number for.