RARECast

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 J...

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...

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...

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, a...

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-d...

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 c...

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...

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 Un...

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,...

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, r...

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 h...

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 or...

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 Shimas...

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...

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 go...

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...

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...

People often focus on the large amounts of money it takes to conduct biomedical research or develop potential therapeutics, but sometime small grants can have big impacts on the lives of people with rare diseases. Caroline Harding, CEO of Genetic Disorders UK, discusses her own journey through the rare diseases world following the birth of her son Columbus, and how she saw, through her own work, t...

David Pearce created the Coordination of Rare Diseases at Sanford or CoRDS registry as a national resource that could help accelerate research into rare diseases. We spoke to Pearce, president of Sanford Research, director of Sanford Children’s Health Research Center, and the Global Genes 2012 Champions of Hope honoree for Research & Science, about his own research into the neurodegenerative disor...

When a doctor delivered a devastating diagnosis to Pat Furlong for her two sons with Duchenne Muscular Dystrophy, she refused to sit by and just watch them slowly die. She marched off to Washington to corner her Senator and the director of the National Institutes of Health, borrowed money to fund her sudden role as a patient advocate, and brought together academic researchers to get them thinking...

Harnessing the power of computers to diagnose rare, genetic diseases is not new idea, but Dekel Gelbman is using Big Data to analyze a patient’s phenotype as a clue to his or her genotype. His company FDNA has developed Face2Gene, a platform for analyzing an image of a patient’s face to help arrive at a diagnosis. We spoke to Gelbman about the challenges of diagnosing a rare disease, how Face2Gene...

Drug discovery in the rare disease space is increasingly reliant on collaborations between patient groups, industry, and academia. Charles River Laboratories, the global contract research organization, recently held a symposium in New York City on the need for successful collaborations to advance rare disease drug discovery. Following the symposium we spoke to Patrick Sweeney, managing director of...

Gene therapy has the promise of radically changing the landscape for rare disease patients without therapeutic options today. Abeona Therapeutics, which is building a pipeline of gene therapies, is not timid in its targets, which includes the progressive neurodegenerative disorders Sanfilippo syndrome types A and B as well as Batten disease. We spoke to Tim Miller, CEO of Abeona, about gene therap...

Rare disease patients are exerting an increasing influence on every aspect of the healthcare continuum and this includes the area of academic research. The Stanford Medicine X conference, held last month, is billed as “an academic conference for everyone.” We spoke to Emma Rooney, patient advocate, storyteller, and 2016 Med X ePatient delegate, about her experience at Med X, her discussions with o...

Having a rare disease with visible manifestations can cause people to stare or give second looks. Peter Dankelson, a 16-year-old with Goldenhar Syndrome, knows what that’s like. Dankelson, talks to students around the country about his experience of living with a craniofacial condition and uses it to remind students that we are all different. His message is simple. He encourages students to treat...