RARECast

One reason for the extended diagnostic odyssey that rare disease patients face is that doctors are often unfamiliar with the rare conditions they may have. In addition, doctors are trained to think of the likeliest explanation for a patient’s symptoms, which may be similar to those of more common diseases. London-based Mendelian is working to bring machine learning to the rare disease diagnostic p...

Children awaiting adoption with a rare disease may go untreated or receive minimal treatment. If they go unplaced, they may face life in a long-term care facility, or nursing home. Gift of Adoption is a nonprofit that provides adoption assistance grants to help vulnerable children find a permanent home and the chance to thrive. We spoke to Pam Devereux, CEO of Gift of Adoption, about the cost of a...

April 29 is Undiagnosed Rare Disease Day. It is a day when advocates raise awareness among the general public and policy makers about the emotional, physical, and financial impact living with an undiagnosed rare disease has on patients and their families. Ahead of this year’s Undiagnosed Rare Disease Day we spoke with Ava Szajnuk, an 11-year-old undiagnosed rare disease patient and advocate, about...

The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for new therapies by providing insights into the developmental...

Rett syndrome is a genetic disorder that mostly affect girls and is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. A study recently published in the journal Neurology reports encouraging results from a mid-stage clinical trial for an experimental therapy to treat the condition. The patient organization Rettsyndrome.org played a key role in identifying the potent...

Sickle cell disease is the most common inherited blood disorder in the United States. People with the condition have sickle-shaped red blood cells and these misshaped cells can block the flow of blood and oxygen to organs throughout the body. These blockages can cause severe pain, organ damage, and strokes. While the disease is well understood, treatment options today are limited and obtaining pro...

A number of rare, genetic diseases including Huntington’s disease and myotonic dystrophy belong to a group of conditions known as repeat expansion disorders. Though it's normal to have pieces of repeating genetic code, these diseases involve an abnormally high number of repeats that result in the production of toxic proteins. NeuBase Therapeutics is using its platform technology to produce antisen...

Transthyretin is a protein found in the blood. Its name reflects its function, which is to transport thyroxine and retinol. In the case of a number of rare conditions, the protein becomes unstable and misfold, causing it to accumulate as toxic protein deposits in the heart or peripheral nerves. Eidos Therapeutics, a subsidiary of BridgeBio, is developing an experimental small molecule drug that bi...

The complement system, part of the immune system, has long been used as a target for interventions in certain rare disease. Apellis Pharmaceuticals is developing therapies to treat rare blood and kidney diseases, but by targeting a different part of the complement system than available therapies do today. We spoke to Cedric Francois, co-founder, president and CEO of Apellis, about the complement s...

One of the challenges rare disease advocates face in advancing research and treatments is finding the patients needed to understand the natural history of a disease and participate in clinical trials. That’s true for cavernous angioma, a formation of abnormal blood vessels in the brain and spinal cord with leaky walls that can cause seizures, stroke symptoms, hemorrhages, and headaches. The Angiom...

As CEO of Ionis Pharmaceuticals, Stanley Crooke has been a pioneer in the development of antisense drugs and oversees one of the industry’s largest and most advanced pipelines. Antisense drugs are compelling for rare diseases because of their ability to selectively target specific RNA sequences. These drugs, such as the company’s treatment for spinal muscular atrophy, Spinraza, are transforming th...

It was about ten months ago that Orchard Therapeutics acquired the gene therapy portfolio of GSK, expanding its pipeline and giving it its first approved therapy. We spoke to Orchard CEO Mark Rothera about his company’s approach to gene therapy, its pipeline, and what he sees as the biggest challenges as Orchard moves towards commercializing its therapies.

Harsha Rajasimha was a post-doctoral researcher at the National Institutes of Health when he lost a newborn child to a rare disease. As he entered the world of patient advocacy, he connected with rare disease patients in his homeland of India. Discussions he had there led him to co-found the Organization for Rare Diseases India and the Organization for Rare Diseases India, USA; an effort to bridge...

The regenerative medicine sector won major product approvals, advanced a growing pipeline of therapies in development, and enjoyed a surge of investment in 2018. As excitement grows about the potential of these therapies, the industry is also wrestling with complex policy issues that could determine how sustainable these businesses will be and whether patients will ever get to benefit from the pot...

The microbiome, the community of bacteria that live within and on our bodies, has become an area of increasing interest to drug developers, who see the potential to both target these microorganisms and exploit them for therapeutic benefit. Scioto Biosciences has developed a biofilm platform that it believes can better deliver and protect beneficial bacteria to treat disease. The lead indication th...

Tiburio Therapeutics emerged from the orphan drug accelerator Cydan at the start of 2019. The company is developing two clinical stage compounds for rare endocrine disorders that it licensed from Ipsen. We spoke to Tiburio Therapeutics CEO Abraham Ceesay, about rare endocrine disorders, the company’s pipeline, and the case for Cydan’s business model.

Aspa Therapeutics is a subsidiary of Bridge Bio that was created to develop a gene therapy to treat Canavan disease, a progressive and fatal neurological disorder for which there is no approved therapy. Canavan is caused by a genetic mutation that results in an enzyme deficiency. We spoke to Eric David, CEO of Aspa, about the condition, the company’s experimental gene therapy, and the benefits of...

Patient-led collaborations are transforming drug discovery and development in rare disease. How they are doing this will be the topic of a panel discussion at the 2019 Biotech Showcase in San Francisco January 8 at 4:30 p.m. Ahead of that panel, we spoke to Walt Kowtoniuk, principal at Third Rock Ventures and moderator of the panel to discuss the challenges of rare disease drug discovery and devel...

Last month, the U.S. Food and Drug Administration approved Sobi’s Gamifant to treat HLH, an ultra-rare condition characterized by hyperinflammation with high morbidity and mortality. The approval strengthens Sobi’s immunology franchise in the United States. We spoke to Rami Levin, president of Sobi North America, and Carol Satler, vice president of medical affairs for Sobi, about HLH, the signific...

Collaboration is critical to addressing problems faced by the rare disease community, but too often collaborations between advocacy organizations turn sour because of miscommunication, a lack of trust between partners, or when unnecessary competition trumps cooperation. A group of rare disease advocacy organizations, including Global Genes, earlier this year launched the THRIVE initiative (https:/...

Prader-Willi syndrome is a rare genetic disease with many effects, but it is characterized by an insatiable drive to eat that leads to overeating and obesity. Soleno Therapeutics is in late-stage clinical testing of a treatment for the intense hunger and overeating in patients with Prader-Willi. We spoke to Anish Bhatnagar, CEO of Soleno, about its experimental therapy, how it works, and why it ma...

The U.S. Food and Drug Administration recently granted gene therapy developer RegenxBio Orphan Drug designation for its experimental gene therapy to treat CLN2 disease, a form of Batten disease, a rare and deadly condition that progressively robs children of their abilities until they die. The gene therapy is one of 12 clinical programs and 20 partnered programs RegenxBio is advancing. We spoke to...

LBSL, a rare genetic disorder that affects the brain and spinal cord, was first identified in 2004. While there are no treatments available today, researchers are working to understand the condition and develop therapies. One ongoing study at Kennedy Krieger Institute is using digital health technologies to remotely test people with the condition and provide a roadmap towards a therapy. We spoke t...

Many rare disease organizations are resource constrained and depend on the kindness of volunteers to provide specialized services and capabilities that they may not have in-house. Sean Gordon, a high-tech sales and marketing specialist, discovered the need after he was diagnosed late in life with a rare disease. His solution has been to create the Rare Funding Team, a free service that matches rar...

When the Hereditary Neuropathy Foundation set up a patient focused drug development meeting with the FDA, it knew that patients with Charcot-Marie-Tooth disease face difficulty providing written comments because of the impact of the disease on their ability to write or type. Working with a technology company, the organization was able to gather patient feedback using voice technology that allowed...