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 view of humanity. When Evie died at age two-and-a-half, Callendar, a photographer, traveled across New ...
Aug 17, 2018•19 min
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, caregivers, families, and friends of those touched by the life-threatening disease. We spoke to Finkel abo...
Aug 08, 2018•17 min
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 neurofibromatosis type 2. A technology entrepreneur, Faber sought to apply what he learned in his career to fight ...
Aug 01, 2018•24 min
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, president and founder of the CDKL5 Research Collaborative and a Global Genes 2018 Rare Champion of Hope ...
Jul 25, 2018•27 min
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 athletes. We spoke to Long about his own rare disease journey, how he became involved with Upliftin...
Jul 18, 2018•28 min
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 through an online counseling service. We spoke to Lamonte about her life with a rare condition for which ...
Jul 11, 2018•20 min
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 organizations. We spoke to Debbie Requesens, co-principal investigator of the National Institute of ...
Jul 05, 2018•16 min
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 compounds that target the protein production mechanism, and why this approach may offer a way to ge...
Jun 27, 2018•20 min
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 able to address a broad range of diseases.
Jun 20, 2018•18 min
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 Proteus syndrome, how it works, and why it may have implications in a number of other indications in...
Jun 13, 2018•21 min
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 be able to address a range of neurodegenerative diseases.
Jun 06, 2018•18 min
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, CEO of Krystal Biotech, about the company’s gene therapy platform, why it uses the herpes simplex vir...
May 30, 2018•26 min
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 Games. We spoke to Bentley about her new book An Unlikely Champion, why she eventually went public ab...
May 23, 2018•36 min
Fragile X Syndrome is a rare developmental disorder and the most common cause of inherited intellectual disability. Tetra Discovery Partners, building on research about the role the enzyme PDE4 plays in the disease, is developing an experimental drug to inhibit its activity. We spoke to Mark Gurney, chairman and CEO of Tetra Discovery Partners, about Fragile X, the potential of its PDE4 inhibitor, and why this drug may have therapeutic benefit in a range of neurodegenerative diseases.
May 16, 2018•24 min
The treatment of hemophilia has been moving toward longer periods between the dosing of recombinant factors. Now, with the advent of gene therapies, the potential of a one-time curative treatment appears to be on the horizon. But Catalyst Biosciences believes it can improve care for patients with the rare bleeding disorder with a daily self-injection. We spoke to Nassim Usman, CEO of Catalyst, about the company’s approach to hemophilia, how its drugs work, and why he believes his company’s pipel...
May 09, 2018•24 min
Rare cancers, like other rare diseases, face the challenges of mustering research attention, access to patients and biological materials, and generating the interest of drug developers. Nevertheless, as a group, rare cancers are the leading cause of cancer deaths in the United States. The Rare Cancer Research Foundation is seeking to change the research and development landscape in rare cancer by bringing together patient organizations and researchers and building the necessary pieces needed to ...
May 02, 2018•21 min
In August 2016, Luke Rosen’s two-year old daughter, Susannah, was diagnosed with a rare, neurodegenerative disease called KIF1A Associated Neurological Disorder. At the time, she was one of only about 15 people known to have the condition. Ahead of the upcoming RARE Patient Advocacy Symposium hosted Saturday, May 19 by Global Genes, in partnership with the Penn Medicine Orphan Disease Center at the University of Pennsylvania's Perelman School of Medicine, we spoke to Rosen about his journey as a...
Apr 25, 2018•27 min
For patients with a rare disease, the diagnostic odyssey can be a long journey fraught with many wrong answers. The Undiagnosed Diseases Network is a research study funded by the National Institutes of Health to bring together clinical researchers from across the country armed with advanced technologies to solve the most vexing cases. Ahead of Undiagnosed Disease Day on April 29, we spoke to Kimberly LeBlanc, associate director of research operations for the Undiagnosed Diseases Network, about t...
Apr 18, 2018•17 min
Before most rare disease patients have a name to give their condition, they go on a diagnostic odyssey than can take years and usually involves multiple specialists. For some patients, the answer never comes. In the absence of a diagnosis, patients face significant challenges getting the care they need, reimbursed by insurers, or necessary accommodations from schools or employers. Ahead of Undiagnosed Disease Day, which takes place April 29, we spoke to Gina Szajnuk, executive director of the Ra...
Apr 11, 2018•24 min
Seth Rotberg grew up in the shadow of Huntington’s disease, a rare, genetic, neurodegenerative condition. Children of people with Huntington’s have a 50 percent chance of developing it themselves. When Rotberg was in college, he made the decision to get tested to see if he too would develop the disease. We spoke to Rotberg about his decision to get tested, why he largely kept the results to himself for two years, and what led him to become a patient advocate.
Apr 04, 2018•27 min
For people with inherited retinal diseases, gene therapies carry the promise of potentially preventing and even curing blindness. But the small patient populations for with people these conditions make it difficult to attract commercial interests. Odylia Therapeutics, a recently unveiled nonprofit gene therapy developer, is hoping to bridge the gap between academic researchers and drug developers by conducting preclinical and early-stage clinical development on gene therapies for inherited eye d...
Mar 29, 2018•23 min
While breakthroughs in the ability to diagnose newborns with genetic diseases continues to expand in scope and fall in cost, the extent of newborn screening varies state-by-state. Nevertheless, the improving affordability of newborn screening is expanding access to these tests for parents seeking them. We spoke to Eric Schadt, CEO of Sema4, about the changing landscape for newborn screening, the company’s Natalis test, and how far off we are from routine screening of newborns with comprehensive ...
Mar 21, 2018•24 min
Inflammation is a complex biological response to potential threats. But sometimes when the immune system is triggered, its fails to resolve, and unwanted damage ensues. Many inflammatory diseases result from a flooding of signals to activate the immune system without adequate off-signals to resolve it. Corbus Pharmaceuticals lead candidate lenabasum targets the immune system off-switch. The company is in late-stage testing of the experimental therapy for the rare condition systemic sclerosis. We...
Mar 14, 2018•20 min
Developing therapeutics for rare diseases can be challenging, and not just because of the small patient populations. Often the progression of a disease is not well understood, the patient population can be heterogenous, and the development of objective and meaningful endpoints for a trial can be difficult. We spoke to Ralf Rosskamp, chief medical officer of Dicerna, about how his company has navigated the various challenges in its effort to develop a treatment for a rare liver disorders, how it ...
Mar 07, 2018•27 min
Nearly a year ago, more than 400 members of spinal muscular atrophy community along with industry, clinicians, and researchers convened a patient-focused drug development meeting with the U.S. Food and Drug Administration to give voice to patient views on the impact the rare condition has on their lives and their priorities for treatments. CureSMA, which organized the event, recently issued its Voice of the Patient report based on the meeting. We spoke to Rosángel Cruz, associate research direct...
Feb 28, 2018•25 min
Makayla Allison’s daughter Lily was born with a rare genetic disease with many symptoms, complex challenges, and no diagnosis. As she grew older, one of the things she told her mother she wanted was to have friends like her, ones with the same health issues. That led Allison to create Someone 1 Like You, an online service that connects people with rare diseases with others with the same conditions. We spoke to Allison, founder and CEO of Some 1 Like You, about the genesis of the service, how it ...
Feb 21, 2018•21 min
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Though people with the disease can look long and lean and ideal for certain sports, strenuous activity can be dangerous because the disease can cause enlargement of the aorta and lead to sudden death under extreme exertion. For Marfan Syndrome Awareness Month we spoke to Alan Braverman, professor of medicine at Washington University, cardiologist at Barnes-Jewish Hospital and a member the professional advisory board...
Feb 14, 2018•19 min
Rare disease centers at academic institutions are usually places that focus on early-stage research of faculty members, but the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine takes a multidimensional approach to address the needs or the rare disease community. In addition to conducting its own research, the center collaborates with both pharmaceutical companies and patient groups, makes grants to support external research, and helps patient groups and famil...
Feb 07, 2018•21 min
World Rare Disease Day is marked on the last day of February by rare disease patient advocates across the globe as a way to raise awareness. This year, the focus of the day will be on research. In recognition of that, we spoke to Anne Pariser, deputy director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences. Pariser discussed the changing role of patients in research, efforts to accelerate translational science, and what her office will be doing...
Jan 31, 2018•27 min
The Boler-Parseghian Center for Rare and Neglected Diseases at Notre Dame University conducts both basic and translational research. It also provides undergraduate students interested in going on to medical school or biomedical research, exposure to rare disease patients and the issues they face. We spoke to Kasturi Haldar, director of the center, about its work, the scientific case for linking rare and neglected diseases, and its upcoming Rare and Neglected Disease Day Conference.
Jan 24, 2018•32 min
