RARECast

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...

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...

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...

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...

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 addr...

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 of...

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 s...

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...

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...

For many families with a child with a rare disease, realizing that something is wrong can be the beginning of an often long diagnostic odyssey. Typically it can take years to get a diagnosis and during that time people can find themselves isolated and without resources or support as they seek to put a name to what is wrong with their child. We spoke Amy Clugston, president of SWAN USA, about life...