Classic congenital adrenal hyperplasia, or CAH, is a potentially life-threatening rare genetic disorder characterized by an inability to produce the stress hormone cortisol while causing excess production of androgens, or male sex hormones. The condition has long-been treated with steroids, but about 70 percent of patients with the condition have poorly controlled disease. The problem is that it is difficult to give someone with CAH enough steroids to control the androgens without causing proble...
Jul 02, 2021•20 min
The imbalance between the supply and demand for gene therapy manufacturing capacity is creating opportunities for contract development and manufacturing organizations. Forge Biologics is seeking to leverage its expertise in AAV gene therapy as a CDMO while developing its own pipeline of experimental gene therapies. We spoke to Tim Miller, co-founder and CEO of Forge Biologics, about the company’s hybrid business model, how it hopes to differentiate itself through its shared experience with its c...
Jun 24, 2021•19 min
Precision, safety, and durability are challenges for gene replacement and gene editing therapies. LogicBio Therapeutics says its GeneRide platform technology addresses these challenges by harnessing a natural DNA repair process. We spoke to Daniel Gruskin, chief medical officer of LogicBio, about the company’s platform technology, the advantages it provides, and the company’s lead experimental therapy for the rare metabolic condition methylmalonic acidemia.
Jun 18, 2021•27 min
Health records can be a rich source of data that can help provide an understanding of a rare disease and drive the development of therapies to treat them. But the siloing of this data, the use of inconsistent terminology, and the unstructured nature of aspects of these records all stand as barriers to harnessing their potential. The consumer health technology company Ciitizen is working to give patients greater control over their own health data and enable its sharing with researchers and provid...
Jun 10, 2021•23 min
The translational challenges of moving an experimental therapy from the lab to the clinic can stall the development of life-saving therapies, but Passage Bio has provided a unique solution to that challenge. The company’s strategic collaboration and licensing agreement with the University of Pennsylvania’s Gene Therapy Program leaves the discovery and preclinical work in the hands of Penn researchers and provides it with enhanced access to a broad portfolio of gene therapy candidates and future ...
Jun 03, 2021•41 min
Earlier the month the U.S. Food and Drug Administration approved Apellis Pharmaceuticals Empaveli to treat paroxysmal nocturnal hemoglobinuria (PNH), a rare and life-threatening condition in which the body’s immune system destroys the oxygen carrying red blood cells. Like existing treatments Soliris and Ultomiris, Empaveli works to inhibit the complement system, but it is the first therapy to target the portion of this immune cascade known as C3. We spoke to Cedric Francois, co-founder and CEO o...
May 28, 2021•21 min
In some diseases, such as lysosomal storage disorders, proteins are unable to serve their normal functions because they become misfolded. While some approaches, such as enzyme replacement therapies, have been used to treat these conditions, they can have significant limitations. Gain Therapeutics has developed a platform for using small molecule therapies to return proteins to their proper shape and restore their function. We spoke to Eric Richman, CEO of Gain Therapeutics, about its platform te...
May 20, 2021•22 min
Mouse models can play an essential role in allowing researchers to understand rare diseases and develop drugs to treat them. Cat Lutz, senior director of mouse repository and in vivo pharmacology genetic resource science at The Jackson Laboratory, researches mice as a model for human neurodegenerative disease. The lab’s mouse repository and Rare and Orphan Disease Center today features more than 12,000 unique strains including more than 1,700 live colonies that are distributed to the scientific ...
May 13, 2021•34 min
The recruitment of patients for rare disease clinical trials can be challenging because of issues such as small patient populations and their geographic dispersity, but the failure to take a patient-centric approach in designing trial protocols can add to the difficulties sponsors face in conducting such studies. The Center for Rare Diseases at PRA Health Sciences recently issued a toolkit focused on patient-centric trial development for sponsors, participants, and advocates. We spoke to Scott S...
May 06, 2021•23 min
The advent of genome editing is creating the potential to correct the underpinnings of genetic diseases by rewriting the mutations that cause them. Before these emerging technologies can be put to use to treat and cure genetic diseases broadly, a number of challenges must be overcome. These include such things as validating new gene editing technologies, finding ways to deliver them precisely to the right cells and tissues in the body, and developing means to detect off-target effects. The Natio...
Apr 29, 2021•33 min
PTC Therapeutics, through its partnership with the SMA Foundation and Genentech, won approval last year for Evrysdi, the first oral therapy for the rare neurodegenerative condition spinal muscular atrophy. Now, the SMA Foundation is working with the company to discover and develop regenerative treatments that can reverse the damage done by the disease. At the same time, the company is advancing its effort on the gene therapy front following its 2018 acquisition of Agilis Biotherapeutics. We spok...
Apr 22, 2021•22 min
Chandler Crews was born with the rare, genetic condition achondroplasia, the most common form of dwarfism. In 2010, she decided to undergo a series of limb lengthening surgeries, which over a four-year period increased her height to 4’ 11” from 3’ 10.” We spoke to Crews, founder and president of the nonprofit patient organization The Chandler Project, about her experiences living with the condition, her decision to undergo the surgery, and how she views new therapies working their way through cl...
Apr 15, 2021•49 min
Children’s Mercy Research Institute has been expanding its efforts to understand the genetics underlying rare diseases. Earlier this year, it opened a new home in downtown Kansas City and at the end of last year launched Genomic Answers for Kids, a first of its kind pediatric data repository and the institutes flagship research initiative. We spoke to Tom Curran, senior vice president, chief scientific officer, and executive director of the Children’s Mercy Research Institute, about the program,...
Apr 08, 2021•28 min
Gene therapy is promising to provide treatments and potential cures for a long list of rare, genetic diseases. A key element of these therapies are the viral vectors that are used to deliver and insert the genetic material used to treat a patient. Guangping Gao, co-director of the Li Weibo Institute for Rare Diseases Research, director of the Horae Gene Therapy Center and Viral Vector Core, and professor at the University of Massachusetts Medical School; and Phillip Tai, assistant professor at t...
Apr 01, 2021•30 min
Sanath Kumar Ramesh’s son Raghav was born with an ultra-rare and progressive disorder known as SSMD. The condition is caused by mutations in the GPX4 gene. There are only a handful of known patients with GPX4 mutations. In the past, most known cases resulted in death about a month after birth. Ramesh has moved with remarkable speed to find patients, raise money, and drive research. But he also realized that many other parents of children and small, rare disease organizations must go through the ...
Mar 25, 2021•30 min
In his new book, Emmy-winning news and documentary television producer Miguel Sancho recounts the efforts he and his wife Felicia Morton went through to get their son Sebastian diagnosed and treated for chronic granulomatous disease, a rare and deadly immunodeficiency. The book “More than You Can Handle: A Rare Disease, a Family in Crisis, and the Cutting-Edge Medicine that Cured the Incurable” follows some familiar territory for books in the genre but diverges in its willingness to explore the ...
Mar 19, 2021•42 min
The Innovative Genomics Institute; a partnership between the University of California, Berkeley and the University of California, San Francisco led by Nobel laureate Jennifer Doudna; is working to harness CRISPR-based genome editing to correct underlying mutations in monogenic diseases. The institute is initially focusing its efforts on sickle cell disease and a rare familial autoimmune disorder. We spoke to Fyodor Urnov, director of technology and translation at the Innovative Genomics Institut...
Mar 12, 2021•51 min
The economic burden of rare disease in the United States reached nearly $1 trillion in 2019, according to a new study from the Everylife Foundation for Rare Diseases. About 43 percent of that total is for direct medical costs. The balance includes such things as forced retirement, absenteeism, and presenteeism—the lost productivity of people who show up to work but are not fully functioning. We spoke to Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation, about the study, its...
Mar 04, 2021•31 min
The ability to target the underlying cause of a disease and make a lasting correction makes gene therapy an attractive approach to treating neurodegenerative conditions. The advent of Zolgensma, a gene therapy for the treatment of the rare neurodegenerative condition spinal muscular atrophy, serves as a model for this approach. A recent review article in Nature Neuroscience looks at the advances in development of gene therapies for neurodegenerative disease and considers the challenges and promi...
Feb 25, 2021•28 min
Poseida Therapeutics is perhaps best known for its immune-oncology cell therapy products, but the company’s platform technologies are also being used to develop a growing pipeline of gene therapy candidates. While the most advanced ones in its pipeline use viral vectors, newer candidates make use of a non-viral nanoparticle vector. This technology can increase the payload of the gene therapy, avoid issues of immunogenicity, allow for redosing, and deliver manufacturing advantages. We spoke to Er...
Feb 19, 2021•29 min
Jazz Pharmaceuticals has been successful at building and commercializing a growing pipeline of therapies to treat rare neurologic conditions and hematologic cancers. Central to its strategy has been the use of acquisitions to build its pipeline. In fact, we should note that since recording this podcast, the company continued that approach with news that it would acquire GW Pharmaceuticals for $7.2 billion to expand its neuroscience portfolio. We spoke to Robert Iannone, executive vice president ...
Feb 12, 2021•22 min
CRISPR is a powerful editing tool, but it works best as a way to knock out genes rather than correct them. New approaches to gene editing, though, are providing the promise of more effective tools for addressing the underlying drivers of monogenic diseases. A recent study in Nature of an approach known as base editing in a mouse model of the ultra-rare genetic condition progeria, a disease that causes premature aging, demonstrated the powerful potential of the approach. While CRISPR has been lik...
Feb 05, 2021•28 min
Arya Singh grew up with a child’s-eye-view of hospitals, operating rooms, and clinical trial sites. As someone with the rare and progressive neuromuscular disorder spinal muscular atrophy type 2, Singh knew what it meant to be isolated and frightened by both as a patient and a clinical trial participant. Now a student at Yale University with plans to pursue her interests in law and public policy in health, she has written Courageous Calla and the Clinical Trial. We spoke to Singh about the surge...
Jan 29, 2021•21 min
Glioblastoma is an aggressive and rare brain cancer. Though it is typically treated with surgery, radiation, and chemotherapy, the prognosis for patients is grim with only 10 percent of surviving at least five years. Plus Therapeutics is developing a pipeline of radiotherapies that are encapsulated in nanoliposomes. Through novel deliver and formulation of these therapies, the company believes it can produce safer and more efficacious treatments. We spoke to Marc Hedrick, CEO of Plus Therapeutic...
Jan 21, 2021•25 min
Patients’ data is critical to rare disease innovation, but it does little to help advance progress if it is not widely accessible to researcher. RARE-X is a nonprofit working to bust data silos through a federated data-sharing platform and empower rare disease patient communities to more easily gather, structure and securely share critical data through a common platform. We spoke to Nicole Boice, co-founder and executive director of RARE-X, about the problem RARE-X is seeking to address, the tec...
Jan 14, 2021•42 min
The genetic basis of sickle cell disease has been long understood, but it has only been recent that new treatments and a growing pipeline of therapies have emerged. The inherited blood disorder causes red blood cells to become crescent shaped, which restricts the flow in blood vessels and limits oxygen delivery to the body’s tissues leading to severe pain and organ damage. At the end of 2019, Global Blood Therapeutics won accelerated approval for Oxbryta, the first FDA-approved therapy that dire...
Jan 08, 2021•21 min
At the end of November, the U.S. Food and Drug Administration approved Rhythm Pharmaceuticals Imcivree, the first therapy for chronic weight management in patients with certain genetic forms of obesity. The approval validates Rhythm’s approach to target a specific biological pathway common to a number of these conditions. We spoke David Meeker, CEO of Rhythm, about genetic obesities, the company’s drug Imcivree, and his plans to expand its use beyond the initial approved indications.
Dec 30, 2020•25 min
Orchard Therapeutics founder and former chief scientific officer Bobby Gaspar took the helm of the gene therapy company in March to replace CEO Mark Rothera when he stepped down. Since taking over, Gaspar has led a restructuring of the company and narrowed the focus to prioritize what it saw as high-value programs including its gene therapy for metachromatic leukodystrophy, a rare and life-threatening inherited disease of the body’s metabolic system. We spoke to Gaspar about the company’s sharpe...
Dec 23, 2020•25 min
Tessera Therapeutics is seeking to move beyond gene editing and gene therapy to what it calls “gene writing.” The company said its technology can be used to change base pairs, make small insertions or deletions, and integrate entire genes into the genome. We spoke to Geoffrey von Maltzahn, co-founder and CEO of Tessera, about the company’s gene writing technology, how it works, and the potential for it to accelerate the pace of genetic medicine.
Dec 17, 2020•27 min
In November, the U.S Food and Drug Administration approved Eiger Biopharmaceutical’s Zokinvy, the first therapy to treat the ultra-rare disorder progeria, a genetic disease that causes premature aging. The approval of Zokinvy, which began life as a potential cancer therapy known as lonafarnib, shows the essential role patient organization can play in driving research and bringing together collaborators to advance the understanding of a condition and develop treatments. We spoke to Leslie Gordon,...
Dec 10, 2020•26 min
