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 of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect ...
Apr 27, 2016•17 min
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 without a diagnosis, the work of SWAN USA, and the upcoming Undiagnosed Children’s Awareness Day on ...
Apr 20, 2016•16 min
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 has decided to initially target rare diseases with the technology.
Apr 13, 2016•26 min
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 panels for neurology, pediatrics and rare diseases. We spoke to Bob Nussbaum, chief medical officer for I...
Apr 06, 2016•25 min
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 disease community in his new film “Always in Hope.” We spoke to Poe about his interest in the rare d...
Mar 30, 2016•17 min
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 In Vivo “Orphans Should Live Alone.” Gilbert discussed how small, rare disease-focused companies op...
Mar 23, 2016•15 min
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 diagnostics that are performed. We spoke to Max Bronstein, senior director of public and government relatio...
Mar 16, 2016•23 min
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 white paper “The New Partnership Paradigm.” Gartman discussed how patient advocates can more effectively...
Mar 09, 2016•16 min
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, and what the future holds in the battle against rare diseases.
Mar 02, 2016•22 min
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 Centers of Mendelian Genomics is expected to get $40 million in new funding, as well as additional mon...
Feb 24, 2016•22 min
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 excellence for rare diseases.
Feb 17, 2016•22 min
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 the Canadian Organization for Rare Disorders, about the need for a national strategy, the effort to pa...
Feb 10, 2016•24 min
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 experience in Utah, why it was successful, and what was learned last year that’s shaping this year’s...
Feb 03, 2016•17 min
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 Bloom, president and chief science officer of Cures within Reach, which launched the crowdsourcing ...
Jan 27, 2016•20 min
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 January 27 roundtable on rare diseases. Kozarsky discussed the promise gene therapy holds for rare dise...
Jan 20, 2016•20 min
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 the case for why this work should matter to everyone.
Jan 13, 2016•21 min
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 Martin Makary, professor of surgery at Johns Hopkins and a coauthor of a recent commentary in the America...
Jan 06, 2016•20 min
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.
Dec 30, 2015•21 min
The gene editing technology known as CRISPR has won recognition as a powerful research tool, but a new study from scientists at The Hospital for Sick Children in Toronto is hailing the technology for its potential therapeutic applications. The study, published in the December 10 online edition of the American Journal of Human Genetics, shows how researchers, for the first time, used CRISPR to remove a duplicated gene from a genome and restored the function in the gene that causes Duchenne muscul...
Dec 23, 2015•19 min
When Sam Kimura was diagnosed with the rare blood disorder aplastic anemia, she began seeking a bone marrow donor to treat her disease. Her sister Alex was more likely than someone not related to her to be a match, but testing showed she wasn’t. Not willing to passively wait for a match, the two embarked on a cross country trip to raise awareness for bone marrow transplants and encourage people to register for a database of potential donors. We spoke to Alex Kimura, executive director of Sharing...
Dec 16, 2015•15 min
After Mike Porath and his wife received a diagnosis of a rare disease for their daughter, he said they felt lost. What helped them most, though, was talking to other parents facing the same thing they were. A career journalist, the experience eventually led Porath to create The Mighty, an online publication to help people facing disability, disease, mental illness, and chronic health conditions with the belief that real stories from real people can be empowering. We spoke to Porath about his own...
Dec 09, 2015•23 min
Sharon King, a rare disease advocate in North Carolina, saw an opportunity to accelerate the development of new therapies for patients while forging a leadership role for the state in the area of rare diseases. King, president of Taylor’s Tale, helped craft legislation that created an advisory council on rare diseases to provide guidance on research, diagnosis, treatment and education. We spoke to King and Tara Britt, associate director of the newly created North Carolina Rare Disease Advisory C...
Dec 02, 2015•21 min
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 Genetics 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 org...
Nov 25, 2015•26 min
Teenagers and young adults with chronic and rare diseases are often acutely aware of how their conditions make them different. That point can be made painfully clear by classmates and others who may avoid or bully them. Filmmaker Lisa Hedley and behavioral therapist Michelle Kupfer, both mothers raising children of difference, created Difference Diaries after a chance meeting. Through short films made by young adults with chronic and rare conditions, they are working to, as their tagline says, i...
Nov 20, 2015•19 min
There are about 1,000 metabolic disorders, but these genetic rare diseases can go undiagnosed in part because most doctors have so little training in recognizing them. To address this problem, the Genetic Metabolic Center for Education provides both consulting and training in the hopes of improving the diagnosis and care of these patients. We spoke to Mark Korson, medical director of the Genetic Metabolic Center for Education, about the challenges metabolic disorders pose, why so many people go ...
Nov 13, 2015•28 min
At the age of 21, Matthew Zachary, a college senior, concert pianist, and composer was diagnosed with a brain tumor and not expected to live long. He survived his cancer and through the experience became aware of the gap in resources for young adult cancer patients and cancer survivors. To address that gap he launched what became Stupid Cancer, an organization that focuses on the needs of this often overlooked segment. We spoke to Zachary about his own experience with cancer, the evolution of hi...
Nov 05, 2015•28 min
When Karen Aiach’s daughter was diagnosed with Sanfilippo Syndrome A, a rare neurodegenerative disease, she and her husband established a nonprofit to fund research. Eventually, as the work progressed, they launched Lysogene, a biotechnology company focused on gene therapy. We spoke to Aiach, CEO of Lysogene, about Sanfilippo Syndrome A, why the focus on gene therapy, and the progress the company has made to date.
Oct 30, 2015•20 min
When David Fajgenbaum was in medical school he developed a rare autoimmune disease that nearly killed him. As he learned more about the state of research into the disease, he discovered researchers were all working in silos and driven by misaligned incentives. He soon abandoned his plans to become a clinical oncologist and co-founded the Castleman Disease Collaborative Network with the intent of turning the research model on its head. We spoke to Fajgenbaum, executive director of the Castleman D...
Oct 23, 2015•18 min
Genomics England, as part of its 100,000 Genomes Project, is turning to crowdsourcing to help develop gene panels to diagnose some 130 rare diseases. PanelApp, as the tool has been dubbed, creates evidence-based gene panels for rare diseases that can be downloaded and viewed by anyone. By calling on rare disease experts from around the world to review the panels, Genomics England hopes to validate and standardize the genes used to diagnose specific rare diseases. We spoke to Ellen McDonagh, lead...
Oct 16, 2015•20 min
Teenage girls, under normal circumstances, wrestle with issues of identity and body image. But for young women with a chronic, rare disease, those struggles can be more complicated. That makes the wisdom, self-awareness, and self-confidence that shine through The Sick Chick blog all the more remarkable. We spoke to Shira Strongin, founder of The Sick Chick and a Global Genes 2015 honoree for teen advocacy, about her battle with Ehler-Danlos Syndrom, how she’s come to appreciate what her disease ...
Oct 09, 2015•17 min
