RARECast

Illumina and the global nonprofit Genetic Alliance late last year unveiled the iHope Genetic Health program, which is aimed at providing whole-genome sequencing to patients across the globe impacted by genetic disease. At least half of iHope Genetic Health’s efforts will be focused on areas of the world in need outside the United States with more than one-third of Illumina’s support being dedicate...

Primary biliary cholangitis is a rare, chronic, progressive, autoimmune disease of the liver. People with the condition suffer from inflammation, destruction of the intrahepatic bile ducts, and accumulate toxic bile acids that cause damage over time. The condition can lead to fibrosis, cirrhosis, and liver failure. CymaBay Therapeutics is developing an experimental therapy, Seladelpar, as a treatm...

Most endocrinologists focus on the level of corticosteroids circulating in the bloodstream when treating conditions like the rare endocrine disorder Cushing syndrome. Sparrow Pharmaceuticals believes it is active intracellular steroids that are primarily responsible for causing toxicity in patients. It is developing therapies that target HSD-1, the key regulator of active intracellular steroids. W...

The advent of noninvasive prenatal testing allow for the use of a simple blood draw from a pregnant woman to tests fetal DNA for genetic conditions. As with liquid biopsies, these test rely on capturing cell-free DNA from the fetus circulating in the mother’s blood. We spoke to Paul Billings, chief medical officer for Natera, about the state of non-invasive prenatal testing, the growing use of the...

The growing concerns about equity, diversity, and inclusion has had particular resonance in the area of rare disease, where health disparities have been felt throughout the community. Eve Dryer, vice president of patient advocacy for Travere Therapeutics, has been involved in a number of efforts to address these issues and her company has played a critical role in funding initiatives to address he...

Many gene therapy companies seek to exploit a platform technology or leverage a specific vector. Rocket Pharmaceuticals is pursuing a multi-platform pipeline of treatments that directly target the genetic mutation underlying rare, childhood disorders. We spoke to Gaurav Shah, CEO of Rocket, about the companies approach to gene therapy, the conditions it’s targeting, and how it determines what gene...

When someone receives a diagnosis of a rare disease, they often find themselves in a strange land with no roadmap. The Tuberous Sclerosis Complex Alliance is helping patients with TSC better manage their condition with the TSC Navigator, an online tool intended to guide individuals and families through the complexities of TSC across their lifespans and live fuller lives. We spoke to TSC Alliance C...

PI3K inhibitors have been an area of great interest for drug developers targeting cancers, but they’ve been difficult to turn into promising drugs due to safety concerns and a lack of efficacy in clinical trials. Pharming, though, believes PI3K can be a valuable target to treat APDS, a rare, immune condition. The company is working to develop Leniolisib, which it licensed from the drug giant Novar...

While gene therapies hold great promise for patients with rare genetic diseases, one obstacle for ultra-rare conditions is that drug developer may view patient populations as being too small to make the development of a gene therapy economically viable. Taysha Gene Therapies, through its partnership with UT Southwestern, is rapidly developing a robust pipeline of gene therapies that leverage the s...

Most people think of gene therapies as a way to replace a mutated gene with a copy that functions properly. But gene therapies are also being developed as a way to get the body to produce therapeutic proteins. AbbVie in September announced a strategic partnership with RegenxBio to develop and commercialize the company’s experimental gene therapy for wet age-related macular degeneration and other e...

While gene editing therapies promise to dramatically change the way that rare genetic diseases are treated, one challenge has been to find ways to deliver them directly into the body rather than first altering a patient’s cells in the lab and reinfusing them. iECURE is developing mutation agnostic in vivo gene editing therapies to address liver diseases. The company has exclusive licensing rights...

Gene editing is an emerging therapeutic area that promises to correct the underlying genetic causes of diseases. Graphite Bio is readying to enroll its first patient in a phase 1/2 clinical study of its experimental gene editor GPH101 to correct the mutation in the beta-globin gene that drives sickle cell disease. Though the condition can manifest itself differently from patient to patient, it can...

Homology Medicines is developing a range of genetic therapies based on a unique set of adeno-associated virus vectors derived from human hematopoietic stem cells that allow it to target a wide range of tissues. It is developing both gene therapies and gene editors simultaneously using these vectors. It’s lead program is an experimental gene therapy for phenylketonuria or PKU, a rare, genetic metab...

Jon and Shirley Dicks’ daughter Elle first started developing problems swallowing when she turned 10 months old. As her difficulty eating progressed, she stopped growing. Her parents grew frustrated by doctors dismissing her symptoms until a passing comment that she seemed to have a sensitivity to light allowed a specialist to diagnose her with the rare, lysosomal storage disorder cystinosis. We s...

The ability to diagnose and treat rare diseases begins with data. The growing awareness about the need to collect data and do so in ways that are meaningful and usable to research and drug development communities, has mobilized a number of efforts to capture and make patient data available. AllStripes, formerly known as RDMD, completed a $50 million venture round in August to help it launch 100 ne...

While there is a steady stream of new gene therapies expected to be approved in the next decade, there are hundreds of diseases that could benefit from gene therapies but are not pursued by drug developers because they affect too small a population to be considered commercially viable. In an effort to change the economics of gene therapy for ultra-rare diseases, the Foundation for the National Ins...

Despite the ability of whole genome sequencing to diagnose patients with rare genetic disease, the technology still leaves many patients without a clear diagnosis. Rady Children’s Institute for Genomic Medicine, which has innovated the use of rapid whole genome sequencing in the neonatal and pediatric ICU, is now working to diagnosed patients left undiagnosed by whole genome sequencing with long-r...

Many rare diseases cause unique changes to facial features that can provide insights for doctors seeking searching for a diagnosis. Researchers at Children’s National Hospital have developed software uses machine learning technology and images captured with a cellphone to quickly recognize disease patterns not immediately obvious to the human eye to help physicians accelerate the diagnosis of gene...

Advances in communication, information, and monitoring technologies have enabled the advent of decentralized clinical trials, but the COVID-19 pandemic crystalized the interest of regulators and trial sponsors. In fact, most biopharmaceutical companies today now expect to use elements of decentralized clinical trials in studies going forward. Science 37 is providing a software platform to enable d...

Chronic kidney diseases represent a growing worldwide problem with a lack of effective treatments. An improved understanding of the biology of kidney disease is fueling growing drug development activity. Chinook Therapeutics is focused on rare, severe chronic kidney diseases with well-defined clinical pathways. Its lead clinical program, atrasentan, is in a late-stage study in IgA nephropathy, a l...

While genetic medicines promise to transform the way rare diseases are treated, one of the greatest challenges to realizing the full potential of these new therapies is the delivery of them to the cells within the body where they must go to be effective. James Dahlman, associate professor in the Department of Biomedical Engineering at Georgia Tech and Emory University, has been working to address...

RNA therapies offer great promise for addressing rare genetic diseases by disrupting the translation of pathogenic genes into disease-causing proteins or getting the body to produce a needed protein it lacks. But the challenge of delivering these therapies to tissue where they need to go to be effective has limited the diseases that have been treated with these therapies to date. DTx Pharma has de...

When Genzyme won approval for an enzyme replacement therapy for Gaucher disease in 1991, the company launched a humanitarian aid program for rare diseases. Now as part of Sanofi, the pharmaceutical company has continued and expanded the program, which now includes five different lysosomal storage disorders, as well as rare blood disorders. We spoke to Bill Sibold, executive vice president of Sanof...

Ashley Walker spent the first 20 years of her life misdiagnosed as having a form of muscular dystrophy. It was only after her twin sons Alexander and Jayden suffered severe respiratory complications following their birth that she and her boys were all diagnosed with X-linked myotubular myopathy, a rare neuromuscular disease. Though the condition predominantly affects males, female carriers like Wa...

The use of model system, such as fruit flies and worms, to screen existing drugs for their potential to treat rare genetic diseases offers a relatively fast and economic method to find candidates for repurposing. The success at screening 4,000 compounds in a worm model of the neurodegenerative disease ALS to identify a candidate that is now in human clinical testing gave rise to Modelis, a Canadia...