When Emily Rapp Black’s son Ronan was diagnosed with the rare and fatal condition Tay-Sachs disease, she turned to writing to make sense of her grief, what his short life would be, and what it meant to be his mother. Her memoir “The Still Point of the Turning World,” was written during Ronan’s life. Eight year’s later she wrote a companion memoir “Sanctuary” in which she explores learning to live after Ronan’s death, coming to terms with her loss, and learning that loss in not something that is ...
Sep 01, 2022•25 min
Alok Tayi thinks the biggest obstacle to treating patients with rare diseases isn’t finding potential treatments but funding them. Vibe Bio, a decentralized autonomous organization, is building a community of patient advocates and investors where holders of a crypto currency token Vibe sells each get to vote on how to invest its pool of money in rare disease drug development efforts. Once a decision is made to invest in the development of a therapy, Vibe creates a traditional corporation and use...
Aug 25, 2022•26 min
X-linked adrenoleukodystrophy is a rare, inherited, neurodegenerative disease. It is a debilitating and chronic condition that is characterized by progressive weakness, stiffness, and muscle spasms, as well as sensory dysfunction, and incontinence. There is currently no approved treatment. Minoryx raised $51.4 million in May to support the application for marketing approval of its X-ALD therapy in Europe and to support launch preparations. We spoke Marc Martinell, co-founder and CEO of Minoryx, ...
Aug 18, 2022•21 min
Oligonucleotide therapies can target the root cause of many diseases through the modulation of RNA expression and processing. Despite the promise of these medicines, their development has been limited by delivery challenges because they are not able to adequately reach heart and skeletal muscle, the critical affected tissues in neuromuscular diseases. PepGen is advancing next-generation oligonucleotide therapeutics that leverage its delivery platform technology to produce cell-penetrating peptid...
Aug 11, 2022•23 min
While biologics and gene therapies have altered what it means to have a rare disease for many people, one problem with these treatments is that they can trigger an immune response that can make a patient ineligible for gene therapies or render a medicine ineffective. Selecta Biosciences is developing a platform technology called ImmTOR that trains the immune system with precision not to react to specific antigens and can restore balance to the immune system. We spoke to Carsten Brunn, president ...
Aug 04, 2022•25 min
Jenn McNary is a mother of children with rare conditions, as well as an outspoken advocate who has sought to elevate the patient voice in rare disease drug development. She was responsible for the organization of the largest FDA advisory committee hearing in history, with more than 1,000 Duchenne Muscular Dystrophy advocates, families, clinicians, and researchers in attendance. Now, as executive director and head of patient advocacy and engagement for Fulcrum Therapeutics, she’s working to infor...
Jul 28, 2022•23 min
Clinical trials can get derailed for a variety of reasons that may have nothing to do with whether a drug works or not. Lokavant has developed an artificial intelligence platform that tracks disparate sources of clinical trials data in real time and through its predicative abilities alert companies to potential problems as they begin to emerge. The company said the system not only saves clinical trial sponsors time and money, but also improves the quality of outcomes. We spoke to Rohit Nambisan,...
Jul 21, 2022•31 min
Last year, the Retinal Degeneration Fund, a venture philanthropy established by the patient advocacy organization Foundation for Fighting Blindness, spun out Opus Genetics to develop gene therapies to treat rare, inherited, retinal diseases. The patient organization’s then CEO Ben Yerxa, who also headed the RD Fund, recently became the full-time CEO of Opus. We spoke to Yerxa about the genesis of Opus, its gene therapy pipeline, and what other patient organizations looking to take a more hands-o...
Jul 14, 2022•22 min
African Americans are four times more likely than Whites to suffer from end-stage kidney disease. In part, that’s because of genetic causes underlying kidney-disease being more common in people of African descent. A recent study suggests that genetic testing and genetic counseling to patients of African ancestry changed behaviors and lowered their risk of developing kidney disease. We spoke to Maggie Westemeyer, a genetic counselor with the clinical genetic testing company Natera, about the gene...
Jul 07, 2022•23 min
The U.S. Food and Drug Administration’s Accelerated Approval pathway allows for the use of surrogate endpoints to make therapies more quickly available for unmet medical needs. About 82 percent of the drugs approved under the designation have been for orphan indications. But controversy around its use to win approval for Biogen’s Alzheimer’s disease drug Aduhelm last year set lawmakers off on an effort to reform how the pathway is used and to place new requirements on drugmakers. The healthcare ...
Jun 30, 2022•36 min
In February, ProJenX launched to develop novel, brain-penetrant therapies that target defined pathways for the treatment of the rare neurodegenerative condition amyotrophic lateral sclerosis and other brain diseases. ProJenX lead candidate is prosetin, an experimental therapy developed through a collaboration between Project ALS and researchers at Columbia University. We spoke to Stan Abel, CEO of ProJenX, about ALS, the company’s lead therapeutic candidate prosetin, and the company’s ongoing re...
Jun 16, 2022•26 min
Dravet Syndrome is a severe genetic epilepsy characterized by lifelong seizures and neurodevelopmental impairment that starts in infancy. Camp4 is developing an RNA therapy that it believes can reduce the frequency and severity of seizures, or eliminate them, by upregulating a gene that underlies the condition. We spoke to Ann Barbier, chief medical officer of Camp4 Therapeutics, about Dravet syndrome, the company’s platform technology to develop therapies that can upregulate gene expression, an...
Jun 09, 2022•21 min
Plasmacytoid dendritic cells or pDCs are immune cells that help the body fight infections but in certain chronic autoimmune condition these cells can become continuously activated and cause the body to attack itself. Horizon Therapeutics is developing an experimental monoclonal antibody known as daxdilimab that can get certain immune cells to deplete the pDC and shut down chronic inflammation in these conditions. We spoke to Jodi Karnell, senior director of Research at Horizon Therapeutics, abou...
Jun 02, 2022•17 min
As a scientist seeking funding to do rare disease research, Olivier Menzel confronted the lack of interest from funding sources. He eventually created the Blackswan Foundation to support research on any type of rare disease. Since then, the foundation has held scientific conferences, raised awareness about rare disease, and been involved in a large number of projects and collaborations around the world. The foundation also created the RE(ACT) Community, a crowdfunding and knowledge-sharing digit...
May 26, 2022•25 min
Stoke Therapeutics platform technology allows it to target genetic diseases where people have one functional copy of a gene and one mutated copy. As a result, they can only produce half as much protein as they need to maintain health. Stoke seeks to restore missing proteins by increasing the protein output from healthy genes to compensate for the non-functioning copy of the gene. The company’s lead experimental therapy is an antisense oligonucleotide to treat the rare and progressive genetic epi...
May 19, 2022•29 min
After Alon Ben-Noon had a chance meeting with patient advocate Shay Rishoni, who suffered from the neurodegenerative condition ALS, he was so inspired by the experience that it led to his founding of NeuroSense Therapeutics to find a treatment for the condition. The company is pursuing synergistic combinations of existing therapies to go after biologic targets underlying the core pathologies of the disease. We spoke to Ben-Noon, CEO of NeuroSense, about the company’s approach to developing thera...
May 13, 2022•21 min
The Russian invasion of Ukraine that began at the end of February has caused more than 5 million people to flee the country as the brutal assault has not spared civilian populations, schools, or hospitals. For people with rare diseases, the war has sent families in search of needed medications and care as they have crossed the border in search of help. Healthcare Education Institute, a Poland-base rare disease advocacy group, has been working to help Ukrainians with rare diseases get across the ...
May 05, 2022•34 min
Genomics England is working to embed genomics into healthcare, enable research, and improve the diagnosis and treatment of patients. In 2018, it completed enrollment of its first initiative—the 100,000 Genomes Project—and is working on a new initiatives to explore the benefits and challenges of sequencing and analyzing the genomes of newborns. We spoke to Ellen Thomas, clinical director and director of quality for Genomics England, about the outcomes from the 100,000 Genomes Project, its Newborn...
Apr 28, 2022•39 min
Many people living with a rare and undiagnosed disease face a prolonged diagnostic odyssey that can be financially and emotionally taxing as they seek to put a name to what ails them. Co-founder and executive director of the Rare and Undiagnosed Network Gina Szajnuk and Co-founder and acting executive director of the Undiagnosed Diseases Network Foundation Cristina Might, both know what the search for a diagnosis is like and are working to help people find answers faster. Ahead of Undiagnosed Ra...
Apr 21, 2022•41 min
One of the challenges of delivering enzyme replacement and other therapies to treat rare diseases is the questions of how to best deliver them. EryDel is developing therapies that can be encapsultated in a patient’s red blood cells through its proprietary, point-of-care device. We spoke to Luca Benatti, CEO of EryDel, about the company’s technology for encapsulating medicines in red blood cells, its pipeline of rare disease therapies, and the advantages delivering treatments this way.
Apr 14, 2022•25 min
Mary Mecham, a mother of two children with rare genetic disorders to whom she reads every day, grew frustrated by the lack of books that had characters who resembled her children. She began to search for stories that featured people with disabilities and met authors with disabilities who wrote about their own struggles. To share these works, she created Disability Book Week, which runs from April 23 to 29. We spoke to Brianna TenBrink, autism advocate and Disability Book Week panelist, about the...
Apr 07, 2022•20 min
When Julia Vitarello learned that her daughter Mila had the CLN7 form of the deadly, neurodegenerative condition Batten disease, it set her off on a search for a treatment that resulted in the development of a customized antisense oligonucleotide. In the wake of Mila’s case, a movement has emerged to develop so-called N-of-1 therapies for people with ultra-rare conditions. Vitarello, along with Boston Children's Hospital researcher Timothy Yu, who developed the ASO to treat Mila, has co-founded ...
Mar 31, 2022•56 min
Recessive dystrophic epidermolysis bullosa is a rare, genetic, progressive condition caused by the deficiency of collagen type VII. People with severe cases of the condition suffer from blistering, vision loss, disfigurement, and other serious medical problems. Castle Creek Biosciences is developing a therapy that involves genetically modifying a patient’s own fibroblasts—the cells in the connective tissue—to get them to produce collagen VII. The modified cells are injected where needed and can ...
Mar 24, 2022•25 min
Aristea Therapeutics was spun out of AstraZeneca to develop medicines for rare, immunologic disorders. Its lead program in development is an experimental therapy for a rare skin condition that causes repeated outbreaks of painful pustules on the hands and feet and is being looked at for other neutrophil-mediated diseases. We spoke to James Mackay, president and CEO of Aristea, about the decision to form the company, its lead therapy in development, and its collaboration and development deal with...
Mar 18, 2022•26 min
RNA interference offers the potential disrupt the translation of instructions from genes with mutations into proteins that drive diseases. Silence Therapeutics is developing a pipeline of therapies based on its mRNAi Gold platform that allows it to target short interfering RNAs to liver cells. We spoke to Mark Rothera, who at the time served as CEO of Silence Therapeutics and Giles Campion, Silence’s chief medical officer and head of R&D, about the company’s platform technology, why it can b...
Mar 10, 2022•27 min
While advances have been made in the treatment of the rare blood cancer multiple myeloma, fundamental questions about how to optimize therapies for individual patients remain. The Multiple Myeloma Research Foundation launched CureCloud, an initiative to gather detailed genomic and health data from thousands of patients to both bring a precision medicine approach to the treatment of multiple myeloma and fuel the development of new breakthroughs. We spoke to Michael Andreini, president and CEO of ...
Mar 03, 2022•22 min
Carli Hamilton was diagnosed at age 2 with the degenerative neuromuscular disease spinal muscular atrophy. Though she wanted to be a mother once she got married, she feared passing the disease onto a child. She and her husband had genetic counseling to see if he was a carrier, but when her best friend became pregnant and told her that it was the hardest thing she had ever done and didn’t think Hamilton would be able to do it, she and her husband figured they would adopt. Nevertheless, Hamilton s...
Feb 24, 2022•32 min
The authors of four separate studies on the economic burden of rare diseases recently collaborated on piece in Health Affairs calling for concrete steps to address gaps in data that make it difficult to track rare diseases in the healthcare system. Though the authors came to similar conclusions in their reports, they were also stymied by existing data constraints, such as a lack of codes for rare diseases, differing data structures of electronic health records, and missed opportunities to gather...
Feb 17, 2022•44 min
Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to learn about federal legislative issues, meet other advocates, and share their stories with legislators. Because of ongoing concerns about the pandemic, this year’s event will be conducted virtually. We spoke to Britta Dornan, senior director of communications and marketing for the EveryLife Foundation and Sarah Tompkins, advocacy chair of Rare Disease Week on Capitol Hill 2022, about this ...
Feb 10, 2022•28 min
One of the challenges various healthcare stakeholders face is making decisions based on limited and lagging data about the changing landscape. Komodo Health has collected a broad range of real-world data that allows it to capture a comprehensive view of patients moving through the healthcare system along with next-generation analytics to derive meaningful insights and drive decisions that improve patient outcomes. The company recently announced that it had entered into an agreement with the Chan...
Feb 04, 2022•37 min
