A Patient-Driven Registry Focused on Health-Related Quality of Life Data

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 of the new Beacon center, about the evolution of gene editing technology, the challenges of a platform approach, and how the organization plans to share what it learns.

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 editing assets including next-generation platform technology and its lead program, a hematopoietic stem cell therapy engineered to restore adult hemoglobin by correcting a genetic mutation in people with sickle cell disease. We spoke to Matthew Porteus, co-founder of Graphite Bio and co-founder and CEO of Kamau Therapeutics, about the company’s genome editing technology, what’s now understood about the adverse event that occurred in the Graphite Bio clinical trial, and the development path forward for the therapy.

“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, and DeVido’s pursuit of a career as a performing artist despite having the condition.

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 Samuel Blackman, head of research and development for Day One Biopharmaceuticals, about childhood cancers, the need for precisions therapies, and Day One’s business model that makes targeting childhood cancers a priority.

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 approach to treat a rare liver disease.

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 ataxia, the company’s gene therapy in development, and its pursuit of gene therapies for both rare and common diseases.

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 Ethris, about how the company’s technology overcomes existing challenges for the therapeutic use of mRNA, its ability to deliver treatments directly to the lung, and its pipeline of therapies in development. 

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 Rahul Kakkar, president and CEO of Tome, about the company’s genome editing technology, how it works, and its potential to change what is possible with gene and cell therapies.

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 Engagement Daniel DeFabio and Founder and President of The Jansen’s Foundation Neena Nizar, about the challenges disabled airline passengers face, what the law says, and why this is a civil rights issue.

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 biopharmaceutical companies identify the critical influencers they need to seek out. We spoke to Sandra Shpilberg, co-founder and CEO of Adnexi, about the role KOLs and DOLs play, how Adnexi identifies and measures their influence, and what companies need to consider when engaging them.