RARECast

When Jon Miller’s son was born doctors failed to diagnose a rare and deadly medical condition despite using newborn screening that was supposed to detect it. Doctors told him his infant was going to die. His son was diagnosed correctly in time as having tyrosinemia, a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, the result of an enzyme deficiency. The experie...

Sickle cell disease is a rare, genetic condition that causes red blood cells to become misshapen and damaged. The condition activates immune cells and blocks blood flow in capillaries, causing injury to many organs and pain daily. Imara is developing an experimental therapy that can prevent the sickling of the red blood cells and also reduce the adhesion of white blood cells to reduce blockage of...

When Sean Baumstark was 25, he was diagnosed with Friedreich’s ataxia, a rare, debilitating and life-shortening disease. His doctor advised him to avoid activities where balance was critical, such as biking, hiking, or running. He told Baumstark he should move to a home without stairs and install handrails. A month later Baumstark bought a bike and set off on a 650-mile trek from his home in Sacra...

Despite accelerated pathways for the development and approval of rare disease therapies, significant challenges remain for companies wishing to bring new treatments to market. Mallory Factor, CEO of IntraBio, recently testified at a U.S. Senate Subcommittee hearing and argued that the programs in place today fail to address the needs companies like his have for timely and early interactions with t...

Two attorneys specializing in regulatory law recently proposed the creation of an FDA Rare Disease Center of Excellence to better allow the agency to address the challenges of advancing and reviewing rare disease products. The proposal, advanced by Hyman, Phelps & McNamara’s Director Frank Sasinowski and Associate James Valentine, also calls for the creation of deputy directors of rare disease at...

This summer, elite runner Dave Proctor set out on a 4,500-mile run across Canada to break a Guinness World Record and raise $1 million to support the Rare Disease Foundation. Proctor’s son Sam has an ultra-rare neurological condition. Though an injury cut Proctor’s run short, it did ignite the imagination of the public and catch the attention of legislators. We spoke to Proctor about the run, the...

Collaborations play a critical role in advancing potential treatments for a rare disease and can take many forms. In some cases, they may involve a single researcher engaging with a single patient, while more complex ones may be multi-organizational alliances that include drug developers, academic institutions, and patient advocacy organizations. We spoke to Hans Schlecht, a physician who has cond...

Seeking treatment for a rare disease can be complicated by the poor understanding clinicians may have of a given condition and variations in the way they diagnose, treat, and monitor a specific disease. One way to ensure patients receive the best care is through the implementation of clinical standards. We spoke to Kathi Kinnett, vice president of clinical care for Parent Project Muscular Dystroph...

A few years ago, Kavi Gandhi’s parents told him that they had become overwhelmed with the demands of running the foundation they had started to fund research for I-Cell disease, a condition that his older brother Yash died from at the age of 9. Kavi told his parents he didn’t want them to close the foundation and offered to take on some of the responsibilities of running it. Since them he has beco...

People with rare and chronic conditions often become so focused on the treatment of their physical ailments that the psychological and emotional aspects of their diseases can be neglected. Allison Fine, a clinical social worker, founded the Center for Chronic Illness in Seattle to provide professionally-led support groups to people with ongoing health challenges. We spoke to Fine about her work, t...

When Mary Beth Campbell’s son Calvin was diagnosed with Bloom Syndrome, a rare genetic disease that can lead to the development of cancer, she found a patient community that had mobilized in fits and starts. There had been efforts to create a patient registry and collect biosamples, but it was not consistently maintained. There was no natural history study of the disease, no animal model for it, n...

When Hillary Savoie was pregnant, an ultrasound concerned her doctors that her child might be born with a genetic disease. When her daughter Esmé was born, despite the health problems she faced, Savoie resisted having genetic testing performed. When her daughter was eventually tested, it did not provide clarity. Eventually four suspect genes were identified through various tests. Savoie, founder o...

When Rachel Callander’s daughter Evie was born was born with a rare, chromosomal disorder, she was told she wouldn’t walk, talk, or eat solid food. The doctor said her condition was “incompatible with life.” Callander's own experience of her daughter was quite different. She said Evie made her stronger, taught her to celebrate life more intentionally, and to have a bigger and more open-hearted vie...

When Muriel Finkel’s uncle became unable to live alone because of amyloidosis, a rare condition in which misfolded proteins accumulate in organs throughout the body, he moved in with Finkel and her husband. As a caregiver, she struggled to understand his condition and medical needs. After his death in 2003, she co-founded Amyloidosis Support Groups to provide peer group support to patients, caregi...

When Onno Faber began experiencing hearing loss in his left ear four years ago, doctors suspected an infection and prescribed steroids. His hearing loss didn’t slow and after several failed treatments, an MRI revealed a large tumor on a critical nerve. Months later, a second tumor was discovered affecting the nerve for his other ear and he was diagnosed with the rare genetic disease neurofibromato...

When Katheryn Elibri Frame’s daughter was diagnosed with CDKL5 disorder, a rare neurological condition that causes treatment-resistant seizures and often severe developmental and cognitive impairments, she co-founded the International Foundation for CDKL5 Research and worked to create a roadmap to a cure. Now, she’s focusing on clinical care and advocacy for CDKL5 patients. We spoke to Frame, pres...

As a college student at Syracuse University, Rob Long was an All-American punter bound for the NFL. His plans took an unexpected turn, though, when he was diagnosed with a rare brain cancer during his senior year. Today, Long is director of strategic development for Uplifting Athletes, a nonprofit organization that raises awareness and funding for rare diseases through a network of college student...

At the age of 4, Destiny Lamonte was diagnosed with vascular Ehlers-Danlos syndrome, a rare connective tissue disorder and considered the most severe form of EDS. As a result of her condition, Lamonte has contended with a long list of complications and underwent multiple surgeries. Nevertheless, she managed to earn a college degree in psychology and today provides support to people in crisis throu...

Biobanks play a critical role in biomedical research, providing scientists with ready access to cell lines, DNA, and other biomaterials that can provide insights into the causes and mechanism of diseases. Coriell Institute for Medical Research, one of the world’s leading biobanks, has long served as a steward of important collections of biomaterials for the National Institutes of Health and other...

Nonsense mutations, genetic mutations that abruptly halt the construction of a specific protein before it is complete, underlies a wide range of rare, genetic diseases. Eloxx Pharmaceuticals is developing therapeutics that address this type of error by restoring production of the complete protein. We spoke to Bob Ward, CEO of Eloxx, about nonsense mutations, the company’s library of small molecule...

When Daniel de Boer’s son was diagnosed with Cystic Fibrosis, the serial entrepreneur gathered a group of biotech experts to pursue a new approach to treating rare diseases. His company ProQR is developing a platform for correcting faulty RNA that underlie specific rare diseases. We spoke to de Boer about how he came to launch ProQR, the company’s platform technology, and why the approach may be a...

Joseph Merrick, who was known as the Elephant Man, suffered from Proteus syndrome, a rare disorder that causes abnormal and disproportionate overgrowth of the skeleton, skin, adipose tissue, and central nervous system. ArQule is developing a treatment for Proteus syndrome and other overgrowth disorders. We spoke to Brian Schwartz, chief medical officer of ArQule, about its potential treatment for...

BrainStorm Cell Therapeutics is developing autologous stem cell therapies for debilitating neurodegenerative diseases such as ALS. Its platform technology induces mesenchymal stem cells to secrete high levels of neuro-protective factors that promote the survival of neurons. We spoke to Chaim Lebovits, CEO of BrainStorm, about ALS, the company’s platform technology, how the company’s approach may b...

Dystrophic epidermolysis bullosa is a rare genetic disease that affects the skin and other organs. People with the condition have skin that is so fragile that minor trauma can cause blistering and wounds. It is a painful condition and can have fatal consequences. Krystal Biotech is developing a gene therapy delivered as a topical gel for DEB and other skin conditions. We spoke to Krish Krishnan, C...

Lisa Bentley spent 20 years competing as a professional athlete, although early in her career she kept secret that she suffered from the rare lung disease cystic fibrosis. Despite her medical condition, Bentley won 11 Ironman races and 11 half Ironman races, had several top five finishes at the Ironman World Championships, and represented Canada on multiple national teams and at the Pan American G...