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RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
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Astellas Pharma took a big step into gene therapies when it announced an agreement at the end of 2019 to acquire Audentes Therapeutics for $3 billion. The company continues to build on that acquisition and has just completed construction on a 154,000 square foot, state-of the art cell and gene therapy facility to bring together teams dispersed acro…
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In February, Synlogic cut 90 percent of its workforce as it ended a pivotal study of its lead experimental therapy to treat the rare, metabolic condition phenylketonuria. The decision came in response to results of an internal review that indicated the trial was unlikely to meet its primary endpoint. Synlogic, which had been developing a new class …
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Michele Herndon’s son Mitchell began developing symptoms of an ultra-rare neurological condition in 2012. He went for five years without answers and in 2017, enrolled in the Undiagnosed Diseases Network, an NIH-funded research study that seeks to diagnose people with the most puzzling conditions. He was diagnosed with the genetic disease Mitchell s…
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Earlier this year the Innovative Genomics Institute and the life sciences tools conglomerate Danaher launched a collaborative center to develop genome-editing therapies for rare and other diseases. The Danaher-IGI Beacon for CRISPR Cures seeks to address hundreds of diseases with a unified research, development, and regulatory approach. Their goal …
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A serious adverse event in the first patient treated with an experimental genome editing therapy for sickle cell disease marked the beginning of the end for Graphite Bio. The company discontinued development of the treatment and eventually entered into a reverse merger with Lenz Therapeutics with a focus on improving vision. At the end of 2023, Kam…
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“Most Likely Not to…,” a musical comedy written and performed by people with the rare, neuromuscular condition spinal muscular atrophy, will make its world debut in New York City on World Rare Disease Day and be streamed live online. The show, part of Genentech’s SMA My Way awareness campaign, highlights the absurdities that people with disabilitie…
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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 childhoo…
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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 A…
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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 Th…
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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 …
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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 barr…
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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 ha…
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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 c…
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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,…
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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 …
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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 ine…
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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…
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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 …
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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 h…
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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 advoc…
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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-relat…
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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 t…
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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…
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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 pr…
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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…
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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 w…
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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 pipel…
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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 …
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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 cell…
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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 directo…
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At 41, Bill Potts received a diagnosis of thyroid cancer. He listened to the recommendations from his primary care physician and didn’t seek out a second opinion. It was only six months later, during a follow up visit when his doctors wanted to repeat his treatment with radioactive iodine that he began to ask questions and started to advocate for h…
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Regulatory T cells target systemic inflammation and neuroinflammation, but when they fail to function properly, they can drive serious health conditions including neurodegenerative, metabolic, and autoimmune diseases. Coya Therapeutics is developing a pipeline of therapies designed to restore the ability of Tregs to modulate the immune system and r…
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Cristóbal Baca and Ana Ortiz came to New Mexico in 1600. Today, they have as many as 5 million descendants. A four-year effort involving community volunteers and workers, medical professionals, researchers, and families across New Mexico unraveled what had been a long-standing medical mystery. It turns out Baca and Ortiz are the source of a founder…
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In June, the National Institutes of Health’s National Institute of Neurological Disorders and Stroke made a five-year, $22.8 million grant to a group led by The Jackson Laboratory to develop gene-editing therapies for four rare, neurological conditions. The use of a platform approach to develop therapies for multiple indications follows other effor…
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CDKL5 deficiency disorder (CDD) is a serious and rare, genetic condition characterized by early onset and difficult to control seizures, as well as severe neuro developmental impairment. Last year, the U.S. Food and Drug Administration approved Marinus Pharmaceuticals Ztalmy to treat seizures associated with CDD, the first FDA approved therapy for …
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Clothing is both functional and a means of self-expression, according to Open Style Lab, a nonprofit that works with designers, engineers, and occupational therapists to create clothing that addresses the needs of people with disabilities. In September 2022, as part of Genentech’s SMA My Way initiative, Open Style Lab and the SMA community joined f…
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Pulmonary arterial hypertension is a rare and progressive condition characterized by high blood pressure in the arteries of the lungs due to their narrowing or a blockage. This causes the heart to work harder to pump blood and leads to heart failure, the need for lung transplantation, and death. Aerami is developing an inhaled form of the targeted …
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Patients may be the experts on their own conditions, but data that captures health-related quality of life is often underutilized in research. The PKD Foundation is working with IQVIA to create a registry of patients with autosomal dominant polycystic kidney disease, a rare kidney condition. The ADPKD registry focuses on patient-reported, health-re…
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The search for a diagnosis can take many years and requires going from doctor to doctor without finding a definitive answer for people with ultra-rare conditions, atypical presentations, or yet-to-be discovered diseases. A group of undiagnosed and ultra-rare diseases patients and their family members, medical providers, and advocacy partners launch…
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Mary Morlino knows what it’s like to search for information and resources for a loved one with a rare disease or yourself. She had two nephews who were diagnosed with the rare neuromuscular disease Becker muscular dystrophy and later she was diagnosed with the rare autoimmune condition sarcoidosis. She now performs that search for information and r…
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Our interactions with the environment can have unexpected effects on our genes and trigger a biologic response that leads to the onset of disease. These interactions can also leave a measurable record in what’s referred to as the exposome. LinusBio, which emerged from the exposome laboratory at Mount Sinai Health System, has developed a test for au…
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Congenital pseudarthrosis of the tibia is a rare condition that can cause spontaneous fractures, mobility problems, and impede proper growth. It is treated surgically, but because the bone often breaks again, it can lead to amputation. Novadip is developing an autologous cell therapy to allow tissue regeneration of large bone defects. We spoke to D…
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CRISPR genome editing has the potential to revolutionize the treatment of diseases, but the imprecision of its editing abilities has limited its value. Emendo Biotherapeutics argues that rather than trying to make every disease fit into the standards CRISPR model, the answer lies in making CRISPR fit each disease. We spoke to Rafi Emmanuel, executi…
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One of the challenges with rare diseases is how different their effects can be from one person to another. In order to get a deeper understanding of the impact and variation of the rare autoimmune condition myasthenia gravis on people, Argenx launched MyRealWorld MG, an app-based study that’s collecting real-world, longitudinal data from 2,000 pati…
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When Terry Pirovolakis’ son Michael was diagnosed with the ultra-rare neurodegenerative disease spastic paraplegia type 50, he set out to raise money and engage researchers in developing a treatment. Now, after successfully dosing Michael with an experimental gene therapy as the first patient in a clinical trial, he has launched Elpida Therapeutics…
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Parder-Willi syndrome is a rare, genetic disease that is characterized, in part, by hyperphagia—an intense and insatiable hunger. People with the condition are driven to constantly eat and seek out food. The syndrome is associated with severe obesity and obesity-related mortality. Tonix Pharmaceuticals is developing an experimental oxytocin nasal s…
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A week before Deborah Ondrasik’s daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Founda…
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Amy Dockser Marcus, in her new book We the Scientists, tells the story of a group of parents of children diagnosed with the rare and fatal genetic lysosomal storage disorder Niemann-Pick disease type C. When they were confronted with the fact that no treatment existed or would likely be developed in time to save the lives of their kids, they began …
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About 10 percent of children who are diagnosed with hearing loss at birth have an auditory neuropathy that is usually due to a genetic cause. One of the most common genetic causes of hearing loss is due to a mutation of the otoferlin gene, which encodes for a protein that enables communication between the sensory cells of the inner ear and the audi…
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