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

A Small Molecule Therapy to Regenerate Muscle in People with DMD

12 days ago 23m 55s

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

Forging a Faster Path for Gene Therapies

19 days ago 28m 28s

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

Determining the Value of Rare Disease Therapies

26 days ago 25m 25s

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

Buying and Building a Gene Therapy Presence

Mar 28th, 2024 28m

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

A Clinical Trial Failure Derails a Promising Technology

Mar 21st, 2024 44m 8s

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

Helping People with Undiagnosed Rare Diseases Find Answers

Mar 14th, 2024 32m 19s

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

Speeding and Scaling the Development of Genome Editing Therapies

Mar 7th, 2024 50m 47s

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

Getting a Next-Generation Genome Editing Therapy for Sickle Cell Disease Back on Track

Feb 29th, 2024 42m 47s

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

Trying to Break a Leg in a Wheelchair

Feb 22nd, 2024 16m 52s

“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,

A Drug Developer that Makes Pediatric Cancers a Priority

Feb 15th, 2024 32m 58s

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

Harnessing the Body’s Natural RNA Machinery to Treat Diseases

Feb 8th, 2024 35m 50s

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

Targeting the Leading Cause of Death in Friedreich’s Ataxia with a Gene Therapy

Feb 1st, 2024 24m 39s

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

How Inhaled mRNA May Help Rare Disease Patients Breathe Easier

Jan 25th, 2024 24m 33s

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

Changing What’s Possible with Cell and Gene Therapies

Jan 18th, 2024 34m 34s

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

Why Flying with a Wheelchair Is a Civil Rights Issue

Jan 11th, 2024 43m 2s

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. Ne

Mapping Spheres of Influence

Jan 4th, 2024 28m 42s

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

Bringing Precision to the Treatment of Rare Cancers

Dec 28th, 2023 32m 58s

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

The Challenges of Developing a Therapy for Pregnant Women with A Rare Condition

Dec 21st, 2023 27m 3s

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

How One Drug Developer Is Addressing Health Inequities

Dec 14th, 2023 24m 42s

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 devel

Accelerating the Development of Genetic Medicines with AI

Dec 7th, 2023 19m 15s

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 DN

Leveraging AI to Address the Neuropsychiatric Conditions Associated with a Rare Disease

Nov 30th, 2023 35m 57s

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 Ther

In Pursuit of a Treatment for His Son, A Lawyer Becomes a Biotech Executive

Nov 22nd, 2023 27m 39s

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 oligonucleot

In Push for Treatment, a Patient Organization Becomes a Trial Sponsor

Nov 16th, 2023 32m 49s

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

Delayed Diagnosis of Rare Diseases Takes Staggering Economic Toll

Nov 9th, 2023 31m 54s

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