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 she’s shared, and the advice she has for others in similar circumstances. This is an encore episode first aired in December 2015.

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 information. This interview originally aired August 2015.

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, the important role small grant making could play. We spoke to Harding about her experiences, her organization’s Jeans for Genes program, and how small grants can sometimes be the catalyst to transform the lives of people. This is an encore presentation of an interview with Harding that originally aired in November 2015.

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 disorder Batten Disease, how that led to the development of CoRDS, and the role patient registries can play in accelerating rare disease research and the development of new therapies. This is an encore presentation of an interview with Pearce that originally aired April 2015.

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 on how they could tackle the disease. We spoke to Furlong, founding president and CEO of Parent Project Muscular Dystrophy, about her experiences, what patient advocates can do to raise awareness for their causes, and how they should think about best leveraging their investments. This is an encore presentation of our April 2015 interview with Furlong.

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 works, and why it could accelerate the process of getting a diagnosis.

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 discovery sciences at Charles River, about the evolving nature of rare disease collaborations, how that’s changing the way researchers work, and why Charles River believes it can play a unique role in facilitating rare disease collaborations.

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 therapy, the company’s pipeline, and the challenges of delivering these therapies to where they are needed within the body.

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 other rare disease patients there, and the experience rare disease patients have going from children to adults with a rare disease.

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 others with kindness. We spoke to Dankelson about his works as a teen rare disease advocate, the message he carries to students, and what he’ll be doing October 10 for Choose Kind Day.

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 Research overrode staff to greenlight the drug. We spoke to Debra Miller, president, CEO, and co-founder of CureDuchenne, about the significance of the approval, her organization’s venture philanthropy model, and what other hope the Duchenne drug pipeline may hold for patients.

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 data scientist at the Broad Institute’s Program for Medical and Population Genetics, about the Matchmaker Exchange, which he helped create. Philippakis discussed how the exchange works, the benefits he hopes it will provide, and the technical and other challenges it faces.

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 medicine and clinical director of the US HAEA Angiodema Center at the University of California, San Diego, about hereditary angioedema, how RNA interference therapies work, and why this may be an area of promise for this and other rare diseases.

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 Foundation for Peroxisomal Disorders, about the natural history study, why such studies are critical for expanding the understanding of a rare disease, and how they help inform the development of therapies.

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 patients, how it requires new ways of approaching scientific problems, and why innovative collaborations are becoming more important than ever to develop new therapies.

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 research, and attract investment into drug development.

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 about how to best work with industry partners.

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 from Ice Bucket Challenge money and could lead to new therapies. We spoke to Lucie Bruijn, chief scientist of the ALS Association, about the findings, their significance, and lessons for other disease groups seeking to accelerate research.

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 Ramanathan, senior author of the study and a member of the Buck faculty, about the study, what it says about the ability to understand more common diseases through the study of rare diseases, and how repurposing existing therapies holds promise of brining new treatments to rare disease patients who are without them.

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 interests for wider patient engagement. We spoke to Rabourn about the evolution of the concept of expanded access, why commercial viability and not the FDA has been the biggest obstacle, and how public-private partnerships can greatly expand their use.