RARECast

Cristol O'Loughlin grew up with three older brothers with the rare lysosomal storage disorder MPS II, or Hunter syndrome. The experience of seeing the demands on her mother led her to create Angel Aid Cares, an organization that seeks to support and connect caregivers, and help them learn to care for themselves while caring for others. We spoke to O’Loughlin about the challenges caregivers face, w...

Disorder: The Rare Disease Film Festival features films from around the world that capture the challenges of life with a rare disease. Launched in Boston in 2017, the festival will be held in San Francisco November 9 and 10 at the UCSF Mission Bay Campus. We spoke to Bo Bigelow, co-founder of Disorder, about what’s showing at this year’s festival, the power of film to raise awareness about rare di...

Last month, Deep Genomics garnered headlines when it declared that it had nominated the industry’s first artificial intelligence-discovered therapeutic candidate. The experimental therapy is intended to treat Wilson disease, a rare and potentially life-threatening condition. The target for the therapy was also identified by the company’s AI platform and Deep Genomics said it was able to identify t...

Shane Burcaw and Hannah Aylward, known to YouTube viewers as Squirmy and Grubs, often find people have trouble comprehending their relationship. Burcaw, who is disabled as a result of spinal muscular atrophy, weighs just 65 pounds and has limited physical abilities. As the title of his latest book explains, “Strangers Assume My Girlfriend Is My Nurse.” We spoke to Burcaw and Aylward about their re...

Jeremy Levin’s high-profile success at building the pipeline at Bristol-Myers Squibb through deal-making and driving the company into immunotherapies, has given him the ability to take virtually any job he’d like in the biopharmaceutical sector. Given that, it may seem surprising the Big Pharma executive chose to become CEO of a development-stage company focused on rare neurological conditions. We...

Jennifer and Tracy VanHoutan lost two children in less than two years to CLN2 Batten disease, a rare, genetic, neurodegenerative condition that slowly robs children of their abilities before taking their lives. The VanHoutans founded Noah’s Hope to create awareness, raise money to fund research, and eliminate policy barriers to bringing therapies to patients. Despite their loss, they continue to a...

When David Fajgenbaum was in medical school, he became stricken with a rare autoimmune disease that nearly killed him. Though he recovered, he would suffer recurring, life-threatening flares only to discover the poor state of research into condition. Fajgenbaum chronicles his rare disease journey and his efforts to drive research and find treatments in his new book “Chasing My Cure: A Doctor’s Rac...

Journalist and best-selling author Susannah Cahalan, ahead of her keynote address at the Global Genes’ RARE Patient Advocacy Summit September 18 in San Diego, discusses about her diagnostic odyssey, the critical role the support of her loved ones made, and what allowed the doctor who diagnosed and treated her to succeed where others had failed.

Nancy Patterson was diagnosed 32 years ago with Graves’ disease, a rare autoimmune condition that causes the thyroid to become overactive and can lead to a range of health complications. Patterson, a practicing mental health counselor, founded the Graves’ Disease and Thyroid Foundation, which she led for nearly 20 years. In her counseling role, she has worked with patients and families across the...

Epigenetics is the study of the regulatory system that controls how genes are turned on or off. In certain cancers, the proteins that regulate gene expression become dysregulated and incorrectly activate or deactivate genes, which can lead to cancer. Salarius Pharmaceuticals is targeting the epigenetic causes of cancer, including rare pediatric cancers. We spoke to David Arthur, CEO of Salarius ab...

Pediatric and primary hyperoxaluria is a rare genetic condition that causes over absorption of oxalate, a compound found in many foods. Too much oxalate can lead to the formation of kidney stones and cause progressive damage of the kidneys. Allena Pharmaceuticals is developing an oral enzyme to treat both the rare form of hyperoxaluria and a more common form of the condition. We spoke to Louis Bre...

Casimir Trials is a contract research organization that is seeking to bring patient and caregiver perspective into the clinical trials process. It’s working with drug developers to create endpoints and measures that can provide rigorous and quantifiable means of demonstrating whether an experimental therapy provides meaningful improvements to a patient’s quality of life. We spoke to Christine McSh...

Idiopathic pulmonary fibrosis is a serious, life-limiting lung disease characterized by fibrosis and scarring of lung tissue. Patients generally live only about three to five years after a diagnosis. Approved therapies can slow down the progression of the disease, but no available therapies halt or reverse it. The only curative therapy is a lung transplant, an option that is available to only a sm...

Patients with rare diseases often have a complex constellation of symptoms that require the care of multiple specialists. Getting access to the needed mix of physicians and counselors can represent geographic and scheduling challenges for patients and caregivers and create difficulties in coordinating care between specialists. One approach to addressing these needs has been the development of cent...

Mitochondria are the powerhouses of the cell and play a central role in a number of rare diseases. Mitochondria have their own DNA and Minovia Therapeutics is seeking to develop cell therapies designed to repair damaged mitochondrial DNA using autologous stem cells that have been enriched with blood-derived mitochondria. We spoke to Natalie Yivgi Ohana, co-founder and CEO of Minovia, about the com...

Earlier this year Passage Bio announced its launch with $115.5 million in funding and a group of founders with a strong pedigree. The company’s founders include gene therapy pioneer James Wilson, pharmaceutical industry veteran Tachi Yamada, and former Alexion executive and OrbiMed Venture Partner Stephen Squinto. One point of distinction for the company is its unique partnership with the Universi...

AGTC is developing gene therapies to treat patients with rare inherited eye conditions. It has multiple programs it is advancing to restore visual function in patients with diseases that threaten to leave them blind. One issue that has emerged, though, is finding the right measures and endpoint for its clinical studies and getting the U.S. Food and Drug Administration to recognize the traditional...

Avidity Biosciences is pioneering antibody oligonucleotide, a new class of therapeutics that marry the target selectivity of monoclonal antibodies with the precision of genetic medicine. The company is focusing on treatments for rare muscle disorders including myotonic dystrophy type 1 and Duchenne muscular dystrophy. We spoke to Art Levin, executive vice president of research and development at A...

Global Genes Rare University is rolling out a new online course aimed at helping rare disease patients and families understand the world of genetics. The course, which is free, starts with the basic genetic concepts for rare disease, and them moves to family and heredity, genetic testing, and scientific advances. We spoke to Holly Snyder, a lead editor on the Rare University genetics course and se...

For rare disease patient groups seeking to drive research toward the development of therapies, many obstacles exist. By setting an overarching research agenda, driving collaborations among researchers, and sharing what is learned, patient groups are getting the most out of limited budgets and accelerating the time it takes to develop new treatments. The newly announced Rare As One Project from the...

Wendy Chung and her lab have proven a talent for identifying new rare diseases. She and her team have discovered more than 44 genetic conditions to date. But Chung, a professor of pediatrics and medicine at Columbia University and New York-Presbyterian Hospital, and director of the clinical genetics program at Columbia University, is driving beyond discovery to help patients find therapeutic alter...

The emotional impact a rare disease can have on siblings of children with these conditions can be significant. A sibling voices survey evaluating the psychological effects of growing up with a sibling with severe epileptic encephalopathies presented at the European Congress on Epileptology last year suggests these children may be as risk for anxiety or depression. We spoke to Lauren Schwartz, a ps...

Early diagnosis and intervention can improve outcomes for children with autism spectrum disorder but arriving at a diagnosis can be difficult at an early age. To diagnose the condition, doctors have relied on behavioral tests and the average age of diagnosis in the United States is more than 4 years. NeuroPointDX has developed a diagnostic test that looks at metabolic imbalances in the blood that...

Natural history studies track the course of a disease over time, helping researchers understand the different ways a condition may manifest itself and progress. These studies can also provide insight into whether patient populations should be divided into subtypes for more targeted therapeutic approaches. Such data often represents a foundational understanding of a disease that can play an essenti...

When Lara Pullen’s son was diagnosed with Prader-Willi syndrome, she began to dive into the scientific literature about the rare condition. Pullen, a scientist and co-founder of the Chion Foundation, discovered that pitolisant, a recently approved drug for narcolepsy, might benefit patients with Prader-Willi. Working with her Chion co-founder Maria Picone, who developed an online data-gathering pl...