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For people in rural communities, access to genomic testing can require getting on a waitlist, delays in clinical assessment, and multiple visits to urban medical centers. A pilot study from Children’s Mercy Research Institute in Kansas City, Mi
The cornea is a transparent and multi-layered dome that sits at the front of the eye. It not only provides protection, but bends light to focus it on the retina. Many corneal diseases cause scarring that reduces the transparency of the cornea a
Lennox-Gastaut syndrome and Dravet syndrome are two rare, developmental and epileptic encephalopathies. Drug developers have sought to address epilepsies by altering the electrical activity in the brain. Ovid therapeutics, though, has taken a n
Zevra Therapeutics, formerly KemPharm, rebranded itself in early 2023 following the acquisition of the experimental therapy arimoclomol for the rare lysosomal storage disorder Niemann Pick disease type C. Zevra is Greek for “zebra,” a symbol of
For certain rare diseases, therapies derived from human plasma, the largest component of blood, represent critical lifesaving and life-sustaining medicines. In many cases, it may represent the only therapeutic option. Takeda pharmaceutical’s Pl
Encoded Therapeutics is developing gene therapies that can target any cell type that has a unique genetic profile. The company’s lead experimental therapy is in development for the epileptic encephalopathy Dravet syndrome, although the company
Tuberous sclerosis complex is a genetic disorder that is characterized by tumor growth in various organs in the body, as well as neurological effects. Most people with TSC experience epilepsy early in life and many develop autism or other neuro
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 inves
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 o
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 nu
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 A
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 we
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
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 i
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 1
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 indic
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
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
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 ente
“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,
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 treatmen
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 har
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, an
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
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 an
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