Duchenne Muscular Dystrophy, a rare genetic disease, causes progressive muscle wasting that slowly robs people of abilities and leads to death. In recent years, much attention has focused on the use of antisense oligonucleotides to bypass defective portions of the exon that codes for the dystrophin gene to restore its production. Dystrophin is a protein that is essential to healthy muscle. Summit Therapeutics is taking a different approach. Instead of restoring dystrophin, Summit is developing a...
Jun 21, 2017•38 min
Enzyme replacement therapies are available for a number rare, metabolic diseases that collectively are known as lysosomal storage disorders. These therapies have brought great benefits to patients. One problem, though, is that the enzymes don’t cross the blood-brain barrier and don’t address the severe and progressive neurological complications caused by many of these diseases. ArmaGen thinks it has a solution. By connecting the enzyme to a protein that is allowed to cross the blood-brain barrie...
Jun 14, 2017•30 min
The promise of gene editing and gene therapy has rare disease patients not only contemplating the potential of new treatments, but ones that can free them from chronic therapies and potentially provide cures. Sangamo Therapeutics, long pursuing its proprietary gene editing technology, is suddenly moving into the clinic with four experimental therapies including a a gene therapy for hemophilia A, and gene editing therapies for hemophilia B, MPS I, and MPS II. The company is currently enrolling th...
Jun 07, 2017•31 min
Clinical trials for rare disease therapies face many challenges due to the small patient population on which they draw, the fact that often there may be many unanswered questions about a specific disease, and the potential variation in the way a rare disease manifests itself in patients. We spoke to John Boland, vice president of product development for the Atlantic Research Group, about the contract research organization’s recent white paper on “Critical Considerations for Rare and Orphan Disea...
May 31, 2017•22 min
For many rare disease patients, the drug discovery and development process moves slower than the diseases they are battling. Earlier this month, representatives of the patient community joined with academic researchers and drug developers at the Charles River Rare Disease Symposium in Cambridge, Massachusetts to explore way to accelerate the process of drug discovery and move more quickly toward human clinical trials. We spoke to Doug Macdonald, director of research operations and scientific all...
May 24, 2017•22 min
Last month the U.S. Food and Drug Administration granted Enzyvant both Breakthrough Therapy Designation and the newly established Regenerative Medicine Advanced Therapy Designation for its investigational cell therapy to treat complete DiGeorge Syndrome, a rare and fatal disease. Enzyvant is the first company to win both designations and only the second to win the Regenerative Medicine Advanced Therapy Designation established through the 21st Century Cures Act. The designations provide for accel...
May 17, 2017•17 min
There is increasing recognition of the important role patients can play by providing their insights into the drug discovery and development process. The Penn Medicine Orphan Disease Center and Global Genes will be hosting the second annual Rare Patient Advocacy Symposium in Philadelphia May 19, at the Sheraton University City Hotel, a day-long exploration of how rare disease patients can better get their voices heard in this process. We spoke to David Fajgenbaum, associate director of patient im...
May 10, 2017•17 min
Porphyria is a rare and intensely painful blood disease. Because it can manifest itself with symptoms similar to those caused by far more common disorders, it can be difficult to diagnose. Colin McEwen went through an 18-year diagnostic odyssey, in part because injuries he suffered as a child from an auto accident obscured from doctors the actual cause of his maladies. His problems were made that much more difficult as his search for relief from the pain from his disease led doctors to dismiss h...
May 03, 2017•21 min
Diagnosing a rare disease can take years. When it’s a disease that’s never been identified before, the search for a diagnosis can be that much more difficult. Daryl Scott, associate professor of molecular and human genetics at Baylor College of Medicine, and colleagues diagnosed four patients on two continents with a never before identified rare disease in a day. The feat is recounted in a recent study published in the journal PLoS ONE (http://bit.ly/2oEXhy5). We spoke to Scott about the diagnos...
Apr 26, 2017•25 min
Researchers at UCLA have developed a stem cell gene therapy treatment for children born with the rare, life-threatening condition ADA-deficient SCID, often referred to as Bubble Baby disease. Children born with this condition are without a functioning immune system and are kept in controlled and isolated environments because exposure to common illnesses or infections can be lethal. We spoke to the treatment’s developer Donald Kohn of the UCLA Eli and Edythe Broad Center of Regenerative Medicine ...
Apr 19, 2017•19 min
Legislation that would provide incentives to drugmakers to repurpose existing pharmaceuticals as rare disease treatments is once again in the works. Known as The OPEN ACT (Orphan Product Extensions Now, Accelerating Cures and Treatments), proponents say it would help address a gap in the drug development landscape. At one point, the bill had been folded into the 21st Century Cures Act, but had been stripped out before passage. We spoke to Max Bronstein, chief advocacy and science policy officer ...
Apr 12, 2017•18 min
The high cost of drug development and the small populations for individual rare diseases can make it difficult to attract drug companies to make the investment of time, money, and resources necessary to bring a rare disease drug to market. American MedChem, a non-profit drug company, is hoping to bridge a gap between the lab and the clinic, by using its small molecule expertise to advance potential rare disease therapies to a point where a drug company might seek to license them. We spoke to Rob...
Apr 05, 2017•28 min
Rare disease advocates, because of their diseases’ small population of patients, can find it challenging to muster the interest of researchers and drug developers to invest the money, time, and energy needed to discover and develop a therapeutic. One solution is to drive collaborations to leverage the limited resources of foundations and researchers and advance their efforts to a point where drug company may be willing to take over development. Support of Accelerated Research for Niemann-Pick C,...
Mar 29, 2017•25 min
Hallie Bae Barnard is an eight-year-old girl with Diamond Blackfan Anemia, a rare condition that has set her family and friends on a search for a suitable bone marrow donor. But her understanding of the need of others in a similar situation has her on a quest to find not only a match for herself, but for many others who are unable to find a life-saving bone marrow donation they need. We spoke to Jennifer Scott, a founding board member and vice president of Media and Communications for Hallie’s H...
Mar 22, 2017•20 min
When Milo Lorentzen was born, concerns over his condition sent him to a neonatal intensive care unit where he spent the first ten days of his life. It began a medical and diagnostic odyssey for him and his parents. After six surgeries and undiagnosed global developmental delays, doctors identified a de novo gene mutation to his KDM1A/LSD1 gene that is believed to be the cause of his condition. His parents eventually launched the website Milo’s Journey to tell his story in the hopes of finding ot...
Mar 15, 2017•18 min
Edgar Kline Jr.’s family can trace its involvement with a rare genetic disease back to the 1700s. In fact, Hagerstown, Maryland, where his family settled, has a higher incidence of hereditary ATTR amyloidosis because of this common ancestor some in the town share. The disease which begins to manifest itself in middle age, can cause damage to the heart, nerves, and various organs. We spoke to Kline about the disease, the difficulty in getting an accurate diagnosis, and why he’s trying to raise aw...
Mar 08, 2017•17 min
The Internet has opened up a world of information to rare disease patients, but it can often be hard to access, understand, or evaluate. Raremark is working to keep rare disease patients up to date with the latest information about their conditions through its online community built around disease channels. We spoke to Raremark founder Julie Walters about the website, how it curates information, and how its ultimately seeking to empower rare disease patients to make better decisions about their ...
Mar 01, 2017•21 min
The translation of a drug from discovery to development faces a number of obstacles, but these can be amplified for rare disease therapies in part because of the smaller populations, heterogeneous nature, and often poorly understood development of a disease. The Catalyst program at the Clinical & Translational Science Institute at the University of California, San Francisco will be holding a one-day symposium on March 3 with leading researchers, drug developers, and patient advocates about t...
Feb 22, 2017•20 min
World Rare Disease Day, an annual international effort to create awareness for rare diseases, will take place February 28. This year, the theme is on how research brings hope to people living with rare diseases. This seemed like an opportune time to talk to Kenneth Hobby, president of CureSMA, about his organization’s efforts to drive research for spinal muscular atrophy, the most common genetic cause of death for infants. We spoke to Hobby about CureSMA’s strategy for research, the role the gro...
Feb 15, 2017•20 min
Last month, Children's National Health System, the world’s largest provider of care for children with rare genetic disorders, announced the formation of Children’s National Rare Disease Institute. Billed as a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases, the National Organization for Rare Disorders has designated it as its first Center of Excellence of Clinical Care for Rare Diseases. We spoke to Marshall Summa...
Feb 08, 2017•23 min
A group of rare, genetic, metabolic diseases known as lysosomal storage disorders are largely without treatments. Mark Noble believes one way of accelerating the development of therapies for this group of disorders is to look at them collectively instead of individually, and see whether existing drugs might serve as treatments. Noble, professor of Genetics and of Neurobiology and Anatomy at the University of Rochester Medical Center, recently co-authored a study in PLoS Biology (http://bit.ly/2k...
Feb 01, 2017•19 min
Sobi is a drugmaker focused on hemophilia, inflammation, and genetic and metabolic diseases. It is now pursuing its drug Orfadin, used to treat the metabolic disorder tyrosemia type 1, as a potential treatment for the metabolic condition alkaptonuria. It is also pursuing Kineret, its drug for the rare inflammatory condition NOMID, as a potential therapy for Still’s disease. We spoke to Rami Levin, president of North America for Sobi, and Len Walt, vice president and head of medical affairs of No...
Jan 25, 2017•27 min
The large number of rare diseases and the small number of patients afflicted with any one of them can help fuel a sense of isolation these patients feel. Sandra Shpilberg, CEO of Seeker Health, has interviewed many rare disease patients over time as part of her work to help drugmakers find participants for clinical trials. In a recent article on her website she argues that rare disease patients, regardless of their particular ailment, share much in common. We spoke to Shpilberg about the disease...
Jan 18, 2017•19 min
The search for a diagnosis can be a long and difficult journey for patients with a rare disease, but CrowdMed is offering a different way for them to find the answers they seek. The web-based service allows patients to tap a multidisciplinary team of experts to help them solve their medical mysteries. We spoke to Jared Heyman, founder and CEO of CrowdMed about the service, how his the experience his sister faced in getting a diagnosis for a rare disease led to its creation, and why the company, ...
Jan 11, 2017•25 min
Collaborations have become a critical aspect of the search for new treatments for rare diseases as drug companies, universities, research institutes, and patient groups are forging alliances to leverage their strengths. Outside this year’s J.P. Morgan Healthcare Conference, Global Genes will convene Rare in the Square in San Francisco’s Union Square to provide rare-disease focused companies and organizations a place to network at the heart of the week’s activities. We spoke to Michael Pistone, d...
Jan 04, 2017•18 min
Obsessive compulsive disorder, tics, anxiety, attention deficit hyperactivity disorder, and behaviors associated with autism spectrum disorders can be caused by a treatable autoimmune condition that is triggered by common infections. These conditions, known as PANDAS and PANS can often be misdiagnosed and wrongly treated to the detriment of the children with the condition. We spoke to Craig Shimasaki, CEO of Moleculera Labs, which has developed a diagnostic to determine if an individual’s neurol...
Dec 28, 2016•19 min
For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect ...
Dec 21, 2016•19 min
When Matt Wilsey daughter Grace was diagnosed with the ultra rare disease NGLY1 deficiency, he travelled the world to get a diverse group of researchers to work on finding answers. His approach to driving research, he says, comes from his experience as a Silicon Valley entrepreneur. We spoke to Wilsey about the experience getting a diagnosis for his daughter, what he learned from others who had gone before him, and the importance of open collaboration across institutions.
Dec 14, 2016•28 min
The dating world can be difficult to navigate for most people, but for a woman with a variety of rare diseases, the dating world poses additional challenges. Chelsea Freund, author of The Sick and the Dating blog (thesickandthedating.com), chronicles her experiences looking for love while contending with both diagnosed and undiagnosed conditions. We spoke to Freund about her blog, the experiences she’s shared, and the advice she has for others in similar circumstances. This is an encore episode ...
Dec 07, 2016•22 min
The Internet giant Google has set its sights on revolutionizing how researchers store, analyze, and share genomic data. The company recently entered into an agreement with the Broad Institute that allows it to integrate Broad’s Genomic Analysis Toolkit into Google Genomics. We spoke to David Glazer, director of engineering for Google, about its Google Genomics platform, the opportunity it sees in genomics, and what it’s doing to help researchers turn vast amounts of data into actionable informat...
Nov 29, 2016•24 min
