RARECast

Because of the rarity of childhood cancers, biopharmaceutical companies often don’t pursue therapies to treat these conditions. The problem is that precision therapies developed to treat adult patients often don’t easily translate into treatments for pediatric patients. Day One Biopharmaceuticals is developing targeted therapies to address childhood cancers and then seeks to partner with larger ph...

RNA editing provides a way to address disease-causing mutations and modulate protein function. Korro Bio has developed platform technology that it says solves many of the challenges facing current gene therapy and gene editing approaches by harnessing the body’s natural RNA editing machinery to make precise, single-base RNA edits. We spoke to Ram Aiyar, president and CEO of Korro Bio, about the co...

Friedreich’s ataxia is a rare, genetic, degenerative disorder that affects multiple systems in the body. As the disease progresses, patients typically experience various heart conditions. Hypertrophic cardiomyopathy, fibrosis, heart failure, and arrhythmias are the cause of death in approximately two-thirds of Friedreich’s ataxia patients. Lexeo Therapeutics is developing a gene therapy to treat F...

Primary ciliary dyskinesia is a rare, genetic disease that arises from structural defects or the absence of the cilia lining of respiratory tract. This leads to mucus littered with trapped microbes, dust, and other debris getting caught in the airways, which can lead to permanent lung damage. Ethris is developing an inhaled mRNA therapy to get the body to produce a needed structural protein to res...

Genome editing technologies are rapidly evolving, but existing approaches have limited capabilities. Tome Biosciences, which emerged from stealth in December 2023, said its programmable genomic integration technology enables the insertion of any genetic sequence of any size at any location in the genome with precision. The technology overcomes barriers in existing approaches and can enable the dev...

Despite existing laws and regulations intended to protect the rights of people with disabilities to fly on airlines, travelers with wheelchairs and medical equipment face obstacles to enjoying the freedom of movement others take for granted. Neglectful handling of equipment, lack of training, and failure to adequately accommodate these travelers have led to a public call for airlines to do more to...

Key opinion leader and digital opinion leaders, terms the bioharmaceutical industry uses to identify influencers, play a critical communications role. They not only can help raise awareness and drive acceptance of innovative products, but also serve as a conduit to help inform companies about what matters to patients and doctors, give insights on clinical trial design and site selection, and help...

Despite the prevalence of cancer, the vast majority of known cancers are rare and face the same type of treatment challenges as other rare diseases. David Hysong was diagnosed at the age of 27 with adenoid cystic carcinoma, a rare head and neck cancer, and that set him on the path to address the needs he saw in patients with these diseases. Hysong, founder and CEO of Shepherd Therapeutics, discuss...

Hemolytic disease of the fetus and newborn is a rare autoantibody condition for which there is no approved therapy. It causes the mother’s immune system to attack and breakdown the red blood cells in her fetus or newborn. It is one of more than 10 immunological and neurological indications for which Johnson & Johnson is developing its experimental monoclonal antibody nipocalimab. We spoke to K...

Hypertrophic cardiomyopathy is a rare, genetic heart condition that has a disproportionate impact on people in the Black community because of socio-economic and access issues. Cytonkinetics' experimental therapy aficamten is in late-stage development to treat the condition, but it also reflects a long-term focus of the company to address health inequities. We spoke to Robert Blum, CEO of Cyto...

The advent of genetic medicines is enabling the development of therapies that can repair or replace a faulty genetic sequence underlying a disease. WhiteLab Genomics has developed an AI-based platform to enable target discovery and design of DNA and RNA therapies in silico and shorten development times. We spoke to David Del Bourgo, CEO of WhiteLab Genomics, about its AI-platform technology, the d...

Though many drug developers today are applying artificial intelligence and machine learning to accelerate and improve drug discovery, the results they produce, in part, may be limited to the quality of the data they are able to use. Nobias Therapeutics is not only using public and private data, but it boasts unique and proprietary access to one of the world’s largest and most diverse pediatric gen...

Alex Nemiroff took an unusual path to becoming the general counsel at Praxis Precision Medicines. Nemiroff’s son was diagnosed with a rare genetic epilepsy, and he co-founded the biotechnology company RogCon to develop an antisense oligonucleotide to treat it. Praxis licensed the project and hired Nemiroff as its general counsel. Now, the company has released encouraging data from the first four e...

Pazopanib, a targeted therapy marketed as Votrient, is used to treat certain cancers. The drug has shown promise as a potential treatment for the rare genetic blood vessel disorder hereditary hemorrhagic telangiectasia (HHT), but when a change in ownership of the drug took place, efforts to develop the drug for HHT ended. That led the patient advocacy organization Cure HHT to step in and sponsor a...

The economic impact of a delayed diagnosis of a rare disease can result in up to $517,000 in avoidable costs per patient, according to a recent analysis from the Everylife Foundation for Rare Diseases and the Lewin Group. On average, the report found, it takes more than six years and nearly 17 doctor visits, hospitalizations, and other health-related trips, to receive a rare disease diagnosis afte...

Duchenne muscular dystrophy is a rare neuromuscular disease that causes muscle degeneration and premature death. As the condition progresses, heart muscle cells die and are replaced with scar tissue. This leads to heart failure, which is currently the leading cause of death among people with Duchenne. Capricor Therapeutics is developing a therapy that uses caridosphere-derived cells from healthy h...

While there have been significant advances in the treatment of the rare, neuromuscular condition spinal muscular atrophy, existing therapies that slow or halt progression of it don’t regenerate muscle that has been lost. Biohaven is developing a therapy designed to inhibit myostatin, a protein that regulates the growth of skeletal muscle growth. We spoke to Lindsey Lee Lair, Biohaven’s vice presid...

The Yaya Foundation recently achieved a milestone in advancing towards treatments for 4H leukodystrophy when it successfully developed a mouse model. It reflects a broader effort that has allowed the organization to drive towards the development of a gene therapy to treat the rare, neurodevelopmental. We spoke to Ron Garber, co-founder and board president of the Yaya Foundation, about 4H leukodyst...

In 2021, the U.S. Food and Drug Administration notified Stealth Biotherapeutics it would not consider its application seeking approval for elamipretide as a treatment for the ultra-rare mitochondrial disease Barth syndrome. The agency wants the company to produce evidence of the drug’s efficacy in a larger population of Barth syndrome patients than it studied, but the company believes it has exhau...

Scaling the production of biotherapeutics is challenging and requires more than just multiplying the ingredients in a recipe. That’s true for gene therapies as well where simply changing the nucleic acid of the payload can have dramatic effects on the product. Form Bio is seeking to address the challenges of making genetic medicines by leveraging AI to accelerate the development of cell and gene t...

Finding a diagnosis for a child with a rare condition can be challenging, even when his mother is a genetic counselor. Danielle Bonadies’ son Ethan was born with a brown birthmark known as a café au lait spot. But as the spots proliferated over the next few months, his pediatrician recognized it as a potential sign of a rare, genetic disorder. It wasn’t until Ethan was 2 that genetic testing led t...

Protein misfolding is an underlying issue for many diseases, including lysosomal storage disorders and some neurodegenerative conditions. When a protein misfolds, its three-dimensional structure is disrupted, and it can no longer function properly. Gain Therapeutics is using its AI-driven discovery platform to identify novel targets to fuel a pipeline of therapies that focus on enzymes involved in...

Antibodies play an important role in the protective immune response. In some situations, though, such as autoimmune diseases, antibodies can cause harm by attacking healthy tissue. Hansa Biopharma has developed an antibody-cleaving enzyme technology platform to target pathogenic antibodies involved in autoimmune disease, organ transplantation, and gene therapies. Its lead experimental therapy, iml...

Microglia are specialized immune cells in the central nervous system that act as sentinels to maintain healthy brain function. They protect the brain against processes that can ultimately lead to neurodegeneration. Vigil Neuroscience is developing precision medicines designed to target microglia and restore and enhance the performance of these cells when they fail to act as they should due to dise...

Cystic fibrosis is a rare disease that has been an area of significant innovation. New therapies have provided life-changing treatments for most patients, but about 10 percent of people with the condition don’t benefit from these treatments because of the specific mutations underlying their condition. We spoke to Jamie Chang, senior medical director at the contract research organization Rho, about...