Sunitha Malepati entered the world of patient advocacy after her child was diagnosed with a rare, neurodevelopmental disorder. More recently she founded the Buffalo Initiative to change drug discovery and development by creating a fund to invest in scientific enterprises driven by patient organizations and their collaborative networks. We spoke to Malepati about how she grew frustrated with the drug development landscape, how the Buffalo Initiative plans to fund patient advocacy organizations dr...
May 16, 2024•21 min
The work of gene therapy pioneer Genethon, a non-profit organization created by the patient association AFM-Telethon, has already seen its research lead to Zolgensma, the gene therapy for spinal muscular atrophy, as well as a growing pipeline of candidates for other rare diseases. But it came to realize it needed to pursue more than just licensing agreements to ensure its work ultimately benefited people who needed its therapies. As a result, the organization has taken a range of different appro...
May 09, 2024•30 min
Much of the challenge of developing genetic medicines lies in having the right vector to deliver the therapy to the cells within the body where they need to go. 4D Molecular Therapeutics has developed platform technology that generates large numbers of genetically diverse, synthetic adeno-associated viral vectors that have desired characteristics using a process known as directed evolution. It is using these vectors to build a pipeline of genetic medicines across a broad set of conditions. We sp...
May 02, 2024•31 min
As genetic testing continues to expand, it is bringing into focus a shortage of genetic counselors who can work with patients to explain results and answer questions. Igentify is helping genetic counselors manage more patients by providing an AI-based platform that can take some of the load off of them by helping onboard patients, obtaining consents, and educating them. We spoke to Doron Behar, co-founder and CEO of Igentify, about the company’s Digital Genetic Assistant, how it works, and why i...
Apr 25, 2024•35 min
Duchenne muscular dystrophy is an inherited disease caused by genetic mutations that no longer allow the dystrophin protein to function properly. It turns out that dystrophin not only plays a role in muscle fiber, but in muscle stem cells as well and is critical for regeneration of muscle tissue. Without dystrophin, people with Duchene suffer progressive muscle tissue damage, functional decline, and ultimately loss of life. Satellos is developing an experimental small molecule therapy that resto...
Apr 18, 2024•24 min
The Bespoke Gene Therapy Consortium, a public-private partnership backed by the Foundation for the National Institutes of Health, in February published its first playbook. The playbook provides a roadmap for streamlining product development and navigation of the regulatory pathway for AAV gene therapies with the goal of getting new treatments to patients sooner. We spoke to Courtney Silverthorn, vice president of strategic alliances and innovation for the Foundation for the National Institutes o...
Apr 11, 2024•28 min
The small patient populations of rare diseases, the limited natural history of these conditions, and the lack of long-term experience with new treatments all contribute to the difficulty in determining the value of rare disease therapies. The issue can be further complicated by whether value is calculated in a single payer system, or a multi-payer system. Recently the Innovation and Value Initiative issued a report with the Everylife Foundation for Rare Diseases from a long-term project to bring...
Apr 04, 2024•25 min
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 across 20 locations. We spoke Ha Tran, medical head of cell and gene therapy for Astellas Pharma, about the company’s vision for cell and gene therapies, ...
Mar 28, 2024•28 min
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 of therapies using synthetic biology, is now weighing its strategic options. We spoke to Neal Sondheimer, outgoing head of clinical for Synlogic and a...
Mar 21, 2024•44 min
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 syndrome, which was named for him. He died from the disease in 2019. Herndon not only started the Mitchell & Friends Foundation but is today the pr...
Mar 14, 2024•32 min
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 is to create a new model for the development of genomic medicines. We spoke to Fyodor Urnov, IGI’s director of technology and translation and director...
Mar 07, 2024•51 min
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, Kamau Therapeutics emerged from stealth following a strategic transaction with Graphite Bio that provided the new company with all of Graphite’s genome e...
Feb 29, 2024•43 min
“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 disabilities often experience. We spoke to the show’s lead actress Shannon DeVido, and the show’s creative director Adam Pryor, about the play, living with SMA, ...
Feb 22, 2024•17 min
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 pharmaceutical companies who may be interested in developing them for adult indications. We spoke to S...
Feb 15, 2024•33 min
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 company’s RNA editing platform technology, how it works, and its initial focus on applying its approac...
Feb 08, 2024•36 min
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 FA cardiomyopathy. We spoke to R. Nolan Townsend, CEO of Lexeo Therapeutics, about Friedreich’s ataxi...
Feb 01, 2024•25 min
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 restore normal cilia structure and function. We spoke to Thomas Langenickel, chief medical officer of E...
Jan 25, 2024•25 min
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 development of a single therapy for a monogenic disease across a wide range of variants. We spoke to Ra...
Jan 18, 2024•35 min
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 recognize the rights of people with disabilities. We spoke to Global Genes’ Director of Community E...
Jan 11, 2024•43 min
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 recruit patients for studies. Adnexi identifies and scores KOLs and DOLs in specific areas to help b...
Jan 04, 2024•29 min
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, discusses his company’s use of AI to analyze individual patient’s tumor RNA, its efforts to match rare canc...
Dec 28, 2023•33 min
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 Katie Abouzahr, vice president of the autoantibody portfolio and maternal fetal disease area leader f...
Dec 21, 2023•27 min
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 Cytokinetics, about hypertrophic cardiomyopathy, how the company has worked to build relationships in the bla...
Dec 14, 2023•25 min
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 data it uses, and its role in a consortium to develop highly specific vectors for genetic medicines....
Dec 07, 2023•19 min
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 genomic data sets to drive insights into human biology. The company’s lead experimental therapy is a tr...
Nov 30, 2023•36 min
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 evaluable patients in a clinical study of the experimental therapy. We spoke to Nemiroff, general cou...
Nov 22, 2023•28 min
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 phase 2/3 trial on its own. We spoke to Marianne Clancy, executive director and senior director of ...
Nov 16, 2023•33 min
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 after symptoms begin. Shortening the diagnostic odyssey saves money for individuals, caregivers, and the...
Nov 09, 2023•32 min
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 human hearts to slow progression of the condition though their anti-inflammatory effects. We spoke to...
Nov 02, 2023•23 min
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 president of clinical development, about SMA, the progress we’ve seen in treating the condition, and the c...
Oct 26, 2023•22 min
