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 orga...
Nov 23, 2016•26 min
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 ca...
Nov 16, 2016•22 min
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 Proj...
Nov 09, 2016•28 min
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.
Nov 02, 2016•16 min
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 ...
Oct 27, 2016•20 min
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...
Oct 19, 2016•18 min
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 ...
Oct 12, 2016•28 min
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 mes...
Oct 06, 2016•16 min
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-found...
Sep 28, 2016•17 min
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 Matc...
Sep 21, 2016•17 min
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, ...
Sep 14, 2016•17 min
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 critica...
Sep 07, 2016•18 min
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 ...
Aug 31, 2016•24 min
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.
Aug 24, 2016•21 min
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.
Aug 17, 2016•18 min
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 scient...
Aug 10, 2016•17 min
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 say...
Aug 03, 2016•20 min
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 expand...
Jul 27, 2016•27 min
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 Shpilberg, CEO of Seeker Health, about the challenges drug companies face finding patients for rare dis...
Jul 20, 2016•21 min
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 rare disease patients might weigh the potential benefits and risks of a therapy. We spoke to Thomas M...
Jul 13, 2016•18 min
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 face. We spoke to Arthur Tzianabos, CEO of Homology Medicines, about the company’s gene therapy, how i...
Jul 06, 2016•17 min
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, before being transplanted back into the patient's body. We spoke to Andrea Spezzi, chief medical officer...
Jun 28, 2016•14 min
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 Retrotope, and Harry Saal, chairman of the company, about mitochondrial diseases, the approach the c...
Jun 22, 2016•27 min
Howard Jacob understands the value of whole genome sequencing as a diagnostic tool. Jacob and his team were the first to use the technology to diagnose a child with an ultra-rare disease, which allowed doctors to save the boy’s life. Jacob, now chief medical genomics officer of HudsonAlpha Institute for Biotechnology, is working to use whole genome sequencing to find answers for other undiagnosed patients and expand the technology’s use as a clinical tool. We spoke to Jacob about the use of whol...
Jun 15, 2016•24 min
Clinical trials for rare disease therapies can pose some unusual logistical challenges that can make it difficult to get patients to participate or remain enrolled in the trial until its completion. Clincierge provides a service that aim to reduce barriers to trial participation. It arranges travel and housing logistics, provides payment and reimbursement systems to address out-of-pocket expenses for patients, and supports family and caregivers to address a patient’s special needs. We spoke to S...
Jun 08, 2016•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...
Jun 01, 2016•18 min
Researchers seeking information about genes and genetic variants face the challenge of needing to search multiple databases, each with their own unique set of formatting issues. To unlock the information they are seeking, they often must spend hours wading through databases, restructuring data, and addressing nonstandard annotations. A groups of scientists at The Scripps Research Institute is addressing that problem through the development of two web services—MyGene.info and MyVariant.info—that ...
May 25, 2016•22 min
Researchers’ understanding of certain rare diseases is changing as new sequencing technology is providing new views of the genome. A group of diseases collectively known as repeat expansion disorders including Fragile X Syndrome, Freidrich’s Ataxia, and Huntington’s disease are being viewed in new ways thanks to the ability to read long fragments of DNA. We spoke Jonas Korlach, chief scientific officer of Pacific Biosciences, about the company’s sequencing technology, how its changing the unders...
May 18, 2016•23 min
While much of the attention of the Duchenne Muscular Dystrophy community has been focused on the recent FDA advisory committee review of Sarepta Therapeutics’ experimental drug Eteplirsen, Marathon Pharmaceuticals has been working to advance its own DMD drug candidate to the FDA. The company expects this month to file an application with the agency for approval to market Deflazacort, a corticoid steroid. We spoke to Tim Cunniff, head of research and development for Marathon Pharmaceuticals, abou...
May 11, 2016•18 min
When researchers explore the human genome, they usually look for genetic causes of disease, but a global study being led by scientists at the Icahn School of Medicine at Mount Sinai and Sage Bionetworks is looking for genes that might keep people healthy. Their study, the largest genome study to date, seeks to find people with genetic mutations that should have caused rare childhood diseases, but didn’t. Dubbed the Resilience Project, they are looking for clues in these genomes for why these peo...
May 04, 2016•25 min
