RARECast

At 41, Bill Potts received a diagnosis of thyroid cancer. He listened to the recommendations from his primary care physician and didn’t seek out a second opinion. It was only six months later, during a follow up visit when his doctors wanted to repeat his treatment with radioactive iodine that he began to ask questions and started to advocate for himself. He now says he would likely be dead had he...

Regulatory T cells target systemic inflammation and neuroinflammation, but when they fail to function properly, they can drive serious health conditions including neurodegenerative, metabolic, and autoimmune diseases. Coya Therapeutics is developing a pipeline of therapies designed to restore the ability of Tregs to modulate the immune system and reduce inflammation. The company’s lead experimenta...

Cristóbal Baca and Ana Ortiz came to New Mexico in 1600. Today, they have as many as 5 million descendants. A four-year effort involving community volunteers and workers, medical professionals, researchers, and families across New Mexico unraveled what had been a long-standing medical mystery. It turns out Baca and Ortiz are the source of a founder mutation for cerebral cavernous malformation, a s...

In June, the National Institutes of Health’s National Institute of Neurological Disorders and Stroke made a five-year, $22.8 million grant to a group led by The Jackson Laboratory to develop gene-editing therapies for four rare, neurological conditions. The use of a platform approach to develop therapies for multiple indications follows other efforts on going at the National Institutes of Health i...

CDKL5 deficiency disorder (CDD) is a serious and rare, genetic condition characterized by early onset and difficult to control seizures, as well as severe neuro developmental impairment. Last year, the U.S. Food and Drug Administration approved Marinus Pharmaceuticals Ztalmy to treat seizures associated with CDD, the first FDA approved therapy for the condition. Marinus is seeking to expand the us...

Clothing is both functional and a means of self-expression, according to Open Style Lab, a nonprofit that works with designers, engineers, and occupational therapists to create clothing that addresses the needs of people with disabilities. In September 2022, as part of Genentech’s SMA My Way initiative, Open Style Lab and the SMA community joined forces for New York’s Fashion Week to feature the D...

Pulmonary arterial hypertension is a rare and progressive condition characterized by high blood pressure in the arteries of the lungs due to their narrowing or a blockage. This causes the heart to work harder to pump blood and leads to heart failure, the need for lung transplantation, and death. Aerami is developing an inhaled form of the targeted cancer therapy imatinib as a treatment for PAH. We...

The search for a diagnosis can take many years and requires going from doctor to doctor without finding a definitive answer for people with ultra-rare conditions, atypical presentations, or yet-to-be discovered diseases. A group of undiagnosed and ultra-rare diseases patients and their family members, medical providers, and advocacy partners launched the Undiagnosed Diseases Network Foundation to...

Patients may be the experts on their own conditions, but data that captures health-related quality of life is often underutilized in research. The PKD Foundation is working with IQVIA to create a registry of patients with autosomal dominant polycystic kidney disease, a rare kidney condition. The ADPKD registry focuses on patient-reported, health-related quality of life data. The organization belie...

Mary Morlino knows what it’s like to search for information and resources for a loved one with a rare disease or yourself. She had two nephews who were diagnosed with the rare neuromuscular disease Becker muscular dystrophy and later she was diagnosed with the rare autoimmune condition sarcoidosis. She now performs that search for information and resources professionally, so others don’t have to d...

Our interactions with the environment can have unexpected effects on our genes and trigger a biologic response that leads to the onset of disease. These interactions can also leave a measurable record in what’s referred to as the exposome. LinusBio, which emerged from the exposome laboratory at Mount Sinai Health System, has developed a test for autism that relies on analyzing a single strand of h...

Congenital pseudarthrosis of the tibia is a rare condition that can cause spontaneous fractures, mobility problems, and impede proper growth. It is treated surgically, but because the bone often breaks again, it can lead to amputation. Novadip is developing an autologous cell therapy to allow tissue regeneration of large bone defects. We spoke to Denis Dufrane, co-founder and CEO of Novadip, about...

CRISPR genome editing has the potential to revolutionize the treatment of diseases, but the imprecision of its editing abilities has limited its value. Emendo Biotherapeutics argues that rather than trying to make every disease fit into the standards CRISPR model, the answer lies in making CRISPR fit each disease. We spoke to Rafi Emmanuel, executive vice president of research and development for...

One of the challenges with rare diseases is how different their effects can be from one person to another. In order to get a deeper understanding of the impact and variation of the rare autoimmune condition myasthenia gravis on people, Argenx launched MyRealWorld MG, an app-based study that’s collecting real-world, longitudinal data from 2,000 patients over two years. We spoke to Deb Gelinas, neur...

When Terry Pirovolakis’ son Michael was diagnosed with the ultra-rare neurodegenerative disease spastic paraplegia type 50, he set out to raise money and engage researchers in developing a treatment. Now, after successfully dosing Michael with an experimental gene therapy as the first patient in a clinical trial, he has launched Elpida Therapeutics to develop multiple gene therapy programs for chi...

Parder-Willi syndrome is a rare, genetic disease that is characterized, in part, by hyperphagia—an intense and insatiable hunger. People with the condition are driven to constantly eat and seek out food. The syndrome is associated with severe obesity and obesity-related mortality. Tonix Pharmaceuticals is developing an experimental oxytocin nasal spray to treat hyperphagia in people with Prader-Wi...

A week before Deborah Ondrasik’s daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CAC...

Amy Dockser Marcus, in her new book We the Scientists, tells the story of a group of parents of children diagnosed with the rare and fatal genetic lysosomal storage disorder Niemann-Pick disease type C. When they were confronted with the fact that no treatment existed or would likely be developed in time to save the lives of their kids, they began collaborating with themselves, researchers, and ph...

About 10 percent of children who are diagnosed with hearing loss at birth have an auditory neuropathy that is usually due to a genetic cause. One of the most common genetic causes of hearing loss is due to a mutation of the otoferlin gene, which encodes for a protein that enables communication between the sensory cells of the inner ear and the auditory nerve. Decibel Therapeutics is developing an...

While there is growing ability to pursue the development of therapies for ultra-rare diseases, they remain challenging because of economics. One major barrier is the difficulty in getting reimbursement for therapies in the absence of well-powered clinical trials that recruit enough participants to satisfy payors demands for adequate proof of the value of a therapy. The Muscular Dystrophy Associati...

Growth hormone deficiency is a rare condition that is the result of inadequate secretion of growth hormone from the pituitary gland. Though recombinant human growth hormone has long been used to treat people with pediatric growth hormone deficiency, it requires either daily or weekly injections and when injections are missed, results can be sub-optimal. Lumos Pharma is developing a once-daily oral...

GM1 gangliosidosis is a rare and deadly lysosomal storage disorder that causes progressive damage to neurons in the brain, as well as the heart, liver, bones and other tissues throughout the body. There are currently no approved therapies to treat the condition. Passage Bio, which has a collaboration with the Gene Therapy Program at the University of Pennsylvania, is developing a gene therapy to t...

A significant obstacle to getting patients to participate in rare disease clinical trials, particularly children, is the burden placed on patients and their families to address the logistical challenges of arranging travel, fronting expenses, and completing paperwork for reimbursement. In fact, nearly two-third of patients and caregivers say travel stopped them from participating in a clinical tri...

Debra Miller’s son Hawken was diagnosed with Duchenne muscular dystrophy at the age of 5. Rather than just accept his fate with the rare neuromuscular condition, Miller and her husband Paul launched CureDuchenne to stimulate the development of treatments and potential cures for the condition. The organization subsequently launched a venture philanthropy fund that, to date, has financed 17 research...

The ability to pinpoint the underlying genetic causes of diseases and rapidly generate genetic medicines to address them has created the potential for the development of individualized therapies to treat patients with ultra-rare diseases. EveryOne Medicines is seeking to industrialize this process and scale the development of N-of-1 therapies. We spoke to Irina Antonijevic, chief medical officer o...