RARECast

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...

RaNA Therapeutics is pursuing treatments for rare diseases, such as spinal muscular atrophy and Friedreich’s Ataxia, with a new therapeutic approach that targets a previously unexplored druggable space. We spoke to Ron Renaud, CEO of RaNA, about his company’s effort to selectively upgregulate genes as a way to treat and prevent disease, the challenges in developing such drugs, and why the company...

Invitae is changing medical practice by brining genetic testing into the mainstream. The company says it seeks to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company recently announced new additions to the genes it tests for representing a major expansion of its panel...

Emmy award-winning filmmaker Rudy Poe, in 2012, turned his lens on Hugh and Chris Hempel to document their effort to find a treatment for their twin daughters suffering from a rare lysosomal storage disorder and reform medical research in the process. The film, “Here. Us. Now.,” introduced Poe to the world of rare diseases. Now he’s in the process of taking a deeper look at the people in the rare...

Large pharmaceutical companies have grown increasingly interested in rare diseases, but acquisitions of rare disease companies by large biopharmaceutical companies may lead to a cultural mismatch that hinders the development and performance of their products. We spoke to Alain Gilbert, co-chairman of the global strategic consulting firm Bionest Parnters and co-author of a February 2016 analysis in...

The 21st Century Cures Act, an ambitious piece of legislation of great concern to the rare disease community, passed the House last year only to stall the Senate. Now it’s back on the radar. The legislation is moving forward again, but this time in pieces. Separately in California, proposed legislation can greatly accelerate the process that tests are added to the list of newborn screening diagnos...

As pharmaceutical companies, spurred by the Orphan Drug Act, have delved deeper into the development of drugs to treat rare diseases, they have forged closer ties with patient advocates. While these relationships are driven by mutual interest, tensions sometimes arise because of divergent needs. We spoke to Heather Gartman, regional managing director of InVentiv Health, about the firms recent whit...

In “Orphan: The Quest to Save Children with Rare Genetic Disorders,” Philip Reilly, a clinical geneticist turned venture capitalist, recounts the history of developing therapies to treat rare diseases. We spoke to Reilly, a venture partner with Third Rock Ventures, about his own experiences in the clinic treating patients with rare diseases, how his perspective has changed as a venture investor, a...

Advances in sequencing the genome are unlocking mysteries about the underlying causes of both common and rare diseases. In an effort to build on existing research, The National Institutes of Health last month said it will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. As part of this effort the Ce...

Kelly Ranallo, a rare patient advocate in Kansas City, is using World Rare Disease Day as a way to bring together the rare disease community in the region at a town hall meeting and to use that meeting to drive new initiatives. We spoke to Ranallo about her new organization Rare KC, the upcoming town hall meeting, and her vision for turning Kansas City into the home of a national center of excelle...

Only 60 percent of treatments for rare disorders make it into Canada and most get approved up to six years later than in the United States and Europe, according to the Canadian Organization for Rare Disorders. In an effort to change the rare disease landscape in Canada, CORD has released a multi-pronged rare disease strategy for the country. We spoke to Durhane Wong-Rieger, president and CEO of th...

Rare disease patient advocates from around the world will be working to raise awareness about rare diseases on February 29, World Rare Disease Day. Last year a group of patient advocates in Utah joined forces to create a statewide effort with great success. We spoke to Gina Szajnuk, co-founder and executive director of Rare and Undiagnosed Network and Committee Chair for Utah Rare 2016, about the...

The high cost and long time it takes to develop drugs has people looking for alternative strategies for finding new treatments. One such approach is repurposing—finding new uses for already approved drugs. This is particularly compelling for rare diseases where small patient populations can serve as a disincentive to drug developers and the need for therapeutics is largely unmet. We spoke to Bruce...

One of the most promising areas for rare disease treatments is gene therapy, part of the emerging area of regenerative medicine. Though long considered a therapy of the future, a number of therapeutics with the potential to treat rare diseases are advancing through the clinic. We spoke to Karen Kozarsky, managing partner at Vector Partners, ahead of the the Alliance for Regenerative Medicine’s Jan...

Rare disease research may focus on individual diseases that affect small patient populations, but often the information gleaned from this work can provide insights into far more common diseases. We spoke to Paul Schindler, executive director and CEO of the Rare Genomics Institute, about the broader benefits of rare disease research, why it can elucidate our understanding of common diseases, and th...

The Orphan Drug Act has provided critical incentives that have helped fuel the development of scores of drugs to treat rare diseases. But health experts at Johns Hopkins Medicine are calling for reform of the act to stop potential abuses by drugmakers they say have gotten huge subsidies and tax breaks for drugs that have been used far more broadly than the law intended to reward. We spoke to Marti...

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...