RARECast

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...

The controversial approval of Sarepta Therapeutics eteplirsen to treat a certain form of Duchenne muscular dystrophy has been viewed as a major victory for patient advocates. Advocates aggressively lobbied the U.S. Food and Drug Administration to grant approval for the drug despite a weak data package presented by the company. Janet Woodcock, director of the FDA’s Center for Drug Evaluation and Re...

As databases containing the genetic information of individuals proliferate, an opportunity for physicians, researchers, and individual to find people with specific rare mutations exists. Matchmaker Exchange represents an effort to tie together a variety of databases and make them accessible through a single portal. We spoke to Anthony Philippakis, cardiologist at Brigham and Women’s Hospital and a...

Hereditary angioedema is a rare genetic disease that causes episodes of severe swelling. The swelling can occur in the limbs, face, intestinal tract and elsewhere. Sometimes, it can be life threatening if the swelling obstructs breathing. Though there are limited therapeutic options available, a class of drugs known as RNA interference is offering hope. We spoke to Marc Riedl, professor of medicin...

Peroxisomal disorders are a group of rare and heterogeneous metabolic diseases. Earlier this year, the National Organization for Rare Disorders selected the Global Foundation for Peroxisomal Disorders as one of 20 rare disease groups to undertake a natural history study with support from the U.S. Food and Drug Administration. We spoke to Melissa Bryce Gamble, president and co-founder of the Global...

The improved ability to generate and capture data is providing researchers with the potential for new insights into diseases, but the growing volume and complexity of the data has made it difficult to translate all of this into actionable information. We spoke to Spyros Mousses, founder and president of Systems Imagination, about the what the emerging world of Big Data means for rare disease patie...

The genomic revolution promises to unlock the underlying mechanism of many rare diseases and disorders, but progress in translating new discoveries into therapies that benefit patients can be frustratingly slow. We spoke to Robert Ring, former chief scientific officer of Autism Speaks, about innovative efforts he’s been involved with to overcome bottlenecks in translational medicine, advance resea...

The International Fibrodysplasia Ossificans Progressiva Association focuses on a rare genetic disorder, but it has had great success in stimulating research, engaging with industry, and helping advance needed therapies. We spoke to Betsy Bogard, global research development director for the IFOPA, about FOP, how her organization has helped drive work toward new treatments, and what it’s learned abo...

Two years ago, the ALS Association’s Ice Bucket Challenge became a viral sensation on the Internet and raised $115 million to fight the progressive neurodegenerative disease. Now those doused donors are seeing concrete results from the money they gave. A recent paper in Nature Genetics reported on the identification of a new gene that is a contributor to ALS, a finding that was funding in part fro...

A widely used drug to treat diabetes may hold promise as a therapeutic for patients with Maple Syrup Urine Disease, a rare, inherited metabolic disorder involving the dysfunction of an enzyme needed to break down three essential amino acids. The findings, which appear in a new study in Nature Scientific Reports come from researchers at the Buck Institute for Research on Aging. We spoke to Arvind R...

Expanded access—a means by which physicians and patients can obtain experimental drugs outside of a clinical trial—has been an area of growing interest among rare disease patients. Jess Rabourn, co-founder and managing director of WideTrial, in a new white paper addresses some common misconceptions about expanded access and argues for a new model that aligns charitable, scientific and medical inte...

Moving a rare disease therapy from the lab to the marketplace requires patients willing to participate in clinical trials that can demonstrate its safety and efficacy. But given the small number of people who may have a specific rare disease, finding these patients can slow the development of new therapies and create a barrier to getting treatments to patients who need them. We spoke to Sandra Shp...

Patients with a rare disease may face debilitating, degenerative, and even life-threatening conditions, often with little treatment options. Their willingness to accept risks in the use of a therapeutic that may provide them benefit may lead to a different calculus than what regulators might consider. A study published at the end of May in the Orphanet Journal of Rare Diseases sheds light on how r...

Gene therapy is offering rare disease patients the promise of delivering potential cures, but as it is generally approached today it has technical challenges to overcome, manufacturing complexities, and an expected high cost. Homology Medicines is taking a unique approach to gene therapy that makes use of a special set of viral vectors that gets around many of the obstacles other gene therapies fa...

Orchard Therapeutics, a London-based gene therapy company with facilities in the United States, unveiled itself in May with $30 million in funding. The company is developing gene therapies to treat rare diseases involving metabolic disorders and immune deficiencies. Orchard uses a patient's own Hematopoietic stem cells, which are modified with a functioning copy of the missing or faulty gene, befo...

Mitochondria, the powerhouses of the cell, play a critical role in a range of rare and common diseases. Retrotope, a development-stage company, thinks it’s found a way to repair the damage done by various disease processes to mitochondira. The company is just concluding an early-stage trial of its experimental therapy to treat the rare disease Freidreich’s ataxia. We spoke to Bob Molinari, CEO of...