Which biotech companies are gaining traction in genetic diseases? 

Genetic diseases are often among the most clearly defined in terms of their molecular origin, but developing treatments for them remains a challenge for biotech companies. Many of these conditions are rare, severe, and underdiagnosed, leaving patients with limited or no therapeutic options.  

In this article, we focus on companies that have raised funding rounds in the past two years to advance treatments for genetic diseases.  

Actio Biosciences 

• Headquarters: San Diego, U.S.A. 
• Latest funding round: $66 million series B (June 2025) 
• Lead candidates: ABS‑1230 for KCNT1-related epilepsy; ABS‑0871 for TRPV4-positive Charcot–Marie–Tooth disease type 2C (CMT2C) 

Actio Biosciences focuses on rare neurological conditions caused by well-characterized mutations, such as severe childhood epilepsy driven by KCNT1 gene variants and hereditary neuropathies linked to TRPV4. Its pipeline is rooted in a proprietary platform called the Rare Disease Target Atlas. 

ABS‑1230, one of the company’s two lead programs, targets KCNT1, a potassium channel whose gain-of-function mutations can result in excessive neuronal firing and early-onset, drug-resistant epilepsy. Actio’s molecule is designed to selectively inhibit the overactive channel without affecting its normal physiological role.  

Its second lead asset, ABS‑0871, is a TRPV4 inhibitor in development for CMT2C. This form of Charcot–Marie–Tooth disease is caused by mutations that render the TRPV4 calcium channel hyperactive, leading to nerve degeneration. ABS‑0871 is designed to normalize calcium flow and has shown positive effects on motor function and neural integrity in preclinical studies. 

In June 2025, Actio raised a $66 million series B round co-led by Regeneron Ventures and Deerfield Management. ABS‑0871 began dosing in healthy volunteers earlier this year, and the company expects to launch a phase 1b trial in 2026.  

AIRNA Therapeutics 

• Headquarters: Cambridge, MA, U.S.A. 
• Latest funding round: $155 million series B (April 2025) 
• Lead candidate: AIR‑001 for alpha‑1 antitrypsin deficiency (AATD) 

AIRNA Therapeutics emerged in 2021 from research on ADAR-mediated RNA editing. The company’s mission is to create precise, reversible “RNA cures” that can fix disease-causing mutations, or even mimic beneficial genetic variants using oligonucleotides designed to recruit the body’s own RNA-editing machinery. 

AIR‑001, the flagship program, targets the PiZ mutation in the SERPINA1 gene responsible for AATD. This condition leads to defective alpha‑1 antitrypsin protein, which accumulates in the liver and fails to protect the lungs. Rather than replace the protein, AIR‑001 goes straight to the RNA transcript, converting the mutant adenosine to inosine, restoring production of the normal protein.  

The fresh funding from the $155 million series B supports the upcoming investigational new drug (IND) filing and phase 1/2 trial expected this year. Beyond AATD, AIRNA is building a pipeline aimed at both rare and common diseases, some designed to repair damage, others to confer beneficial traits, like enhanced cardiometabolic resilience. 

Alesta Therapeutics 

• Headquarters: Leiden, Netherlands 
• Latest funding round:  €65 million ($70 million) series  A (January 2025) 
• Lead candidates: ALE1 for hypophosphatasia (HPP); ALE2 for Charcot–Marie–Tooth 

Founded in late 2021, Alesta Therapeutics is a rare disease-focused biotech operating between Leiden and Boston. The company is developing orally available small-molecule therapies that target genetic disorders lacking effective treatment options. In the company’s pipeline, two candidates stand out. 

ALE1, an orally active inhibitor in-licensed from 1cBio, aims to treat hypophosphatasia (HPP), a debilitating condition caused by ALPL mutations leading to excess inorganic pyrophosphate (PPi), weak bones, and early tooth loss. By reducing PPi levels in preclinical models, ALE1 has demonstrated potential to treat the full clinical spectrum of HPP and is expected to begin clinical testing in late 2025. 

Meanwhile, ALE2 targets a subset of Charcot–Marie–Tooth disease caused by mutations in tRNA synthetases. It inhibits the GCN2 kinase, a key sensor of ribosomal stress, to reduce neurotoxicity and preserve nerve function. 

The €65 million ($70 million) series A, led by Frazier Life Sciences and Droia Ventures with support from Novartis Venture Fund and others, validated Alesta’s approach. 

Azafaros 

• Headquarters: Leiden, Netherlands 
• Latest funding round: €132 million ($155 million) series B (May 2025) 
• Lead candidate: nizubaglustat for Niemann–Pick disease type C (NPC) and GM1/GM2 gangliosidoses 

Azafaros’ objective is to develop brain-penetrant, oral small-molecule therapies that modify disease progression in rare lysosomal storage disorders, conditions marked by the accumulation of toxic substances in the brain and peripheral tissues. These incurable, neurological genetic diseases, such as NPC and gangliosidoses, are typically lethal and lack effective treatment options. 

Its lead asset, nizubaglustat, is a dual-acting azasugar designed to inhibit two key glycosylation enzymes involved in lipid buildup. By restoring lipid homeostasis, it aims to slow or halt neurodegeneration.  

Nizubaglustat has already moved through phase 2, with topline data recently released showing positive pharmacokinetics, safety, and signs of metabolic correction in patients. The €132 million ($155 million) series B will fund two pivotal phase 3 trials in NPC and GM1/GM2, set to begin later this year. 

Beacon Therapeutics 

• Headquarters: U.K. & U.S.A. 
• Latest funding round: $170  million series B (July 2024) 
• Lead candidate: laru‑zova (AGTC‑501) for X‑linked retinitis pigmentosa (XLRP) 

Beacon Therapeutics is developing gene therapies for inherited retinal diseases, with a focus on conditions that cause progressive vision loss and currently lack effective treatments. Its lead program, laru‑zova, also known as AGTC‑501, is being developed for X-linked retinitis pigmentosa, a severe form of inherited blindness caused by mutations in the RPGR gene. 

Laru‑zova uses an adeno-associated virus (AAV) vector to deliver a functional copy of the RPGR gene directly to photoreceptor cells via a subretinal injection. In clinical studies, the therapy has shown potential to stabilize or improve visual function in affected patients. Interim results from the phase 1/2 trial demonstrated sustained safety and visual improvements over 36 months. A subsequent phase 2 trial has reported encouraging early findings, with continued assessment underway. Based on these results, Beacon launched a phase 2/3 trial in early 2024 and dosed its first patient in June 2024. Enrolment for this study is now complete.

A year ago, the company raised $170 million in a series B round co-led by Forbion.  

Celosia Therapeutics 

• Headquarters: Sydney, Australia 
• Latest funding round: $10.4 million (A$16.75 million) series A (Nov ember 2024) 
• Lead candidate: CTx1000 for amyotrophic lateral sclerosis (ALS) 

Celosia Therapeutics emerged from Macquarie University research in 2022 with the mission to treat neurodegenerative conditions, starting with ALS by targeting one of its core pathological drivers. The company’s lead program, CTx1000, uses a viral gene therapy platform to selectively remove toxic aggregates of TDP‑43, a protein closely linked to motor neuron degeneration in ALS. In preclinical models, CTx1000 not only halted disease progression but also showed potential to reverse established damage. 

Instead of targeting symptoms, CTx1000 is designed to degrade misfolded or pathological forms of TDP‑43 while preserving its normal cellular function. The therapy leverages AAV delivery to reach both brain and spinal cord motor neurons in a one-time administration. 

With the closing of its $10.4 million series A round in 2024, Celosia were aiming for a mid-2025 start for a first-in-human trial at the time of the fundraising, and initial results are expected by 2028. 

Character Biosciences 

• Headquarters: Jersey City, NJ, U.S.A. 
• Latest funding round: $93 million Series B (March 2025) 
• Lead candidates: CTX114 for geographic atrophy in advanced dry age-related macular degeneration (AMD); CTX203 for intermediate AMD 

Character Biosciences is a precision ophthalmology company aiming to treat progressive eye diseases by tailoring therapeutics to genetically defined patient subtypes. Born out of Clover Therapeutics in 2019 and rebranded in 2022, the company draws on a rich dataset: over 6,500 AMD patients integrating genomics, imaging, and clinical data to identify molecular drivers of disease progression and refine its drug design. 

The company’s precision platform allowed it to develop two distinct therapies for dry AMD. CTX114 is a complement-pathway inhibitor intended to slow geographic atrophy, while CTX203 is designed to modulate ABCA1 lipid transport and prevent progression in intermediate-stage AMD. Both candidates have moved into IND-enabling studies, with clinical trials expected to start this year. 

In March 2025, Character secured a $93 million series B financing to support the launch of phase 1 and 2 trials for both lead assets and support expansion into other ophthalmic genetically influenced diseases, including primary open-angle glaucoma. 

Genespire 

• Headquarters: Milan, Italy 
• Latest funding round: €46.6 million ($52 million) series B (September 2024) 
• Lead candidate: GENE202 for methylmalonic acidemia (MMA) 

Genespire develops off‑the‑shelf lentiviral gene therapies designed for intravenous administration. Its immune‑shielded lentiviral vector (ISLV) platform is engineered to evade immune detection, enabling durable liver expression following a single dose, a promising fit for pediatric metabolic disorders like MMA, a severe genetic condition affecting amino acid and fat metabolism. 

GENE202, the lead asset, delivers functional methylmalonyl‑CoA mutase (MUT) to the liver. This aims to restore metabolic balance in MMA patients by converting lactate and amino acids correctly. Preclinical results shown at ASGCT confirmed stable enzyme expression, reduced toxic metabolites, and strong safety data in animal models. 

With $52 million raised via co‑lead investors Sofinnova, XGEN Venture, and CDP Venture Capital, Genespire is now preparing to initiate its phase 1/2 clinical trial later this year. 

GEMMA Biotherapeutics 

• Headquarters: Philadelphia, PA, U.S.A. 
• Latest funding round: $34 million seed (December 2024) 
• Lead programs: Multiple gene therapy assets targeting rare diseases, under early development 

GEMMA Biotherapeutics was founded in October 2024 by Dr. James M. Wilson, a gene therapy pioneer who previously led the Gene Therapy Program at the University of Pennsylvania. During his tenure at Penn, Wilson spearheaded research that enabled AAV vectors to become the leading delivery platform in gene therapy. 

The company’s mission is to deliver affordable, scalable gene therapies for rare genetic diseases, especially those impacting pediatric patients and underserved communities. GEMMA uses AAV vectors and an academic-industry hybrid model, offering both its therapeutics and supporting external developers via partnerships like its $100 million agreement with Brazil’s Fiocruz, aimed at building local manufacturing and treatment access. 

Although the specific therapeutic targets haven’t been disclosed, GEMMA reports several “active” programs in development supported by the $34 million seed funding. These aim to address rare neurometabolic and neurodegenerative genetic disorders. Alongside a partnership with Fiocruz to potentially deploy six disease programs, GEMMA is off to a strong start. 

Glycomine 

• Headquarters: San Carlos, CA, U.S.A. 
• Latest funding round: $115 million series C (April 2025)  
• Lead candidate: GLM101 for phosphomannomutase‑2 congenital disorder of glycosylation (PMM2‑CDG) 

Glycomine is a clinical-stage biotech company pioneering a novel mannose-1-phosphate (M1P) replacement therapy for PMM2-CDG, a life-threatening genetic disorder caused by enzyme deficiency in the glycosylation pathway. Its lead drug, GLM101, employs lipid nanoparticle (LNP) delivery to transport M1P into cells, bypassing PMM2 mutations. This approach restores proper glycosylation processes, a method simpler than gene editing and especially suitable for a disease that affects multiple organs. 

In a phase 2 study, patients exhibited an average 11.9-point improvement in ataxia scores over 24 weeks. Responding to that data, Glycomine raised $115 million in a series C round in April 2025 to launch a phase 2b trial, with topline results anticipated in mid‑2026. 

SpliceBio 

• Headquarters: Barcelona, Spain 
• Latest funding round: $135 million series B (June 2025) 
• Lead candidate: SB‑007 for Stargardt disease (inherited macular degeneration) 

SpliceBio is developing a novel gene therapy technique to tackle disorders caused by mutations in large genes whose size usually exceeds what standard AAV vectors can carry. Its proprietary Protein Splicing technology uses engineered inteins to split a large gene across two AAV vectors. Once inside target cells, the protein parts rejoin, enabling full-length protein function. 

SB‑007 targets Stargardt disease, a juvenile-onset macular dystrophy caused by mutations in the ABCA4 gene. The dual-AAV therapy restores functional ABCA4 protein in photoreceptors, offering potential benefit regardless of specific mutations. In December 2024, SpliceBio secured U.S Food and Drug Administration (FDA) IND clearance, the first-ever for a dual-AAV gene therapy in Stargardt, and they later dosed the first patient in the phase 1/2 trial in March 2025. 

In June 2025, the biotech closed a $135 million series B round, bringing in EQT Life Sciences and Sanofi Ventures with participation from all existing investors, including Roche Ventures and Novartis Ventures.  

SpliceBio’s platform overcomes a fundamental limitation in gene therapy: the payload capacity of AAV. It potentially offers a scalable way to address large gene disorders.  

Vico Therapeutics 

• Headquarters: Leiden, Netherlands 
• Latest funding round:  €54 million ($60 million) series B (January 2024) 
• Lead candidate: VO659, an allele-preferential ASO for polyglutamine diseases (Huntington’s and spinocerebellar ataxias) 

Vico Therapeutics is focused on antisense oligonucleotide (ASO) therapies for severe neurological disorders driven by CAG-repeat expansions, most notably Huntington’s disease, spinocerebellar ataxias 1 and 3 (SCA1/SCA3). 

Its lead program, VO659, employs an allele-preferential mechanism: it selectively binds mRNA transcripts with expanded CAG repeats common to polyglutamine diseases, reducing mutant protein levels while sparing the normal allele. In a phase 1/2a trial initiated in 2023, patients dosed with VO659 showed an average 28% reduction in CSF mutant huntingtin protein, a biomarker of neuronal injury. 

Genetic disease-focused biotech companies are maturing 

Biotech funding has become more selective over the past two years. Total venture investment in the sector fell by roughly 20% between Q1 2024 and Q1 2025, and early-stage rounds have been hit particularly hard. But larger, later-stage deals are still being done, and median round sizes have held steady around $90 to $100 million, a sign that capital is still available for programs with a clear rationale and a credible path forward. 

Most of the genetic diseases-focused companies in this list fall into that category. Their ability to raise recent rounds, often at series B or beyond, reflects growing investor confidence in the development of therapies for genetic diseases. These companies are moving beyond discovery into clinical development, with many advancing first-in-human studies, building manufacturing capabilities, or expanding their pipelines. 

How far these programs go remains to be seen, but the fact that they’ve secured funding in a more cautious market suggests that there is still room to back genetically guided drug development.