Tepezza became an instant blockbuster when it hit the market as the first targeted therapy for thyroid eye disease, a rare autoimmune condition that causes eyes to bulge, vision problems, and can lead to long-term damage to the eyes. The success of Tepezza drove Amgen’s $27.8 billion acquisition of Horizon Therapeutics, announced at the end of 2022…

When Ben Davies was born, he had difficulty breathing. He also suffered from recurrent infections. It took five years of being in and out of hospitals, and the persistence of his mother Traci Davies, who brought him to different doctors, before a physician diagnosed him with primary immunodeficiency. The rare condition leaves people with weakened i…

When Melanie Kandzierski took on the role of being mother to her granddaughter Rosie, she didn’t know how it would change her world. Rosie began experiencing seizures and she would eventually be diagnosed with a Dravet syndrome, a rare form of epilepsy that not only causes seizures, but developmental delays, motor issues, and behavioral challenges.…

One of the challenges of delivering gene therapies to the eye is that once a subretinal injection is made, the therapy’s distribution is confined to the margins of the pocket of fluid that is created, known as a bleb. Atsena, which is developing gene therapies for X-linked retinoschisis and Leber congenital amaurosis 1, uses its AAV.SPR technology …

In a medical first, a team at Children’s Hospital of Philadelphia and Penn Medicine has successfully treated an infant diagnosed with a rare genetic disorder by using a customized CRISPR gene editing therapy. The work, led by Penn Medicine’s Kiran Musunuru and CHOP’s Rebecca Ahrens-Nicklas, points to the potential to use bespoke gene editing therap…

The Children’s Tumor Foundation has been effective in working with drug developers to advance new therapies for neurofibromatosis, a group of rare, genetic conditions that cause tumors to grow on nerves throughout the body. Part of its success has been its ability to get biopharmaceutical companies to reposition assets once in development for other…

Epicrispr Biotechnologies is using CRISPR to modulate the expression of disease-causing genes without making cuts to DNA. Its lead program is in development to treat FSHD, a genetic disorder that causes progressive weakness in the muscles of the face, shoulders, and upper arms. We spoke to Amber Salzman, CEO of Epicrispr, about how its one-and-done…

One of the hallmarks of the rare genetic disorder Prader-Willi syndrome is hyperphagia, an insatiable desire to eat. Households with someone with Prader-Willi syndrome often have to take measures to restrict access to food, such as locking refrigerators, pantries, and trash cans. They must also deal with the complex behavioral challenges associated…

CTX is a rare metabolic disease that can cause seizures, developmental delays, and intellectual disability. Now, a diagnostic test that can detect the condition early is available, and a treatment that can prevent the disease's serious effects has won regulatory approval. We spoke to Bart Duell, professor of medicine at Oregon Health Sciences Unive…

Biliary tract cancers are a group of rare cancers with limited treatment options and generally poor outcomes because most patients are diagnosed at an advanced stage. There are efforts to address that through the development of early detection tools. And the use of biomarker testing can today match as many as half of these patients to a targeted th…

Drug development activities focused on the rare, neuromuscular condition Duchenne muscular dystrophy have translated into functional improvements and an extension of life expectancy. Regenxbio is among several companies pursuing a gene therapy to treat Duchenne. Regenxbio believes both its microdystrophin—a truncated form of the dystrophin gene­ sm…

GRIN-related disorders are a group of rare neurodevelopmental conditions that can cause intellectual disability, behavioral challenges, and seizures. GRIN Therapeutics is developing a once-failed development candidate for chronic neuropathic pain, known as radiprodil, as a potential treatment for GRIN-related disorders driven by gain-of-function mu…

Osteosarcoma is a rare and aggressive bone cancer that usually affects children and teenagers. Over the past 40 years, there’s been little progress to improve survival rates, with the five-year survival rate stagnant at about 60 to 70 percent for localized disease and 15 to 30 percent for metastatic osteosarcoma. OS Therapies is developing an exper…

When Paul Biderman was born, he had trouble gaining weight. He grew sicker and, at about six months, he was diagnosed with the ultra-rare genetic disease abetalipoproteinemia, a condition that impairs a person’s ability to absorb fats and fat-soluble vitamins. The condition requires adherence to a strict diet and a regimen of daily vitamin suppleme…

Spinocerebellar ataxia includes a group of rare, genetic, neurodegenerative disorders. People with the condition suffer from the loss of balance, coordination, and muscle control. As the condition progresses, people can lose the ability to walk and speak. There is no approved treatment for SCA, but Biohaven has applied to the U.S. Food and Drug Adm…

Netherton syndrome is a rare and chronic skin condition. One in ten infants with the disease will die as a result of infections and related complications. Azitra has developed a platform for engineering bacteria that naturally colonize the skin to produce proteins with therapeutic benefits to treat Netherton syndrome and other conditions. We spoke …

Emerging cell and gene therapies represent areas of great promise for people with rare, genetic diseases, but the translation gap for these medicines can leave them stalled at the lab. Mass General Brigham in 2022 launched the Gene and Cell Therapy Institute, a research hub dedicated to advancing gene and cell therapies for various diseases to brid…

Raziel Green lost both her mother and aunt to the rare neurodegenerative disease amyotrophic lateral sclerosis or ALS. But when Green, a runner, began experiencing muscle weakness and falls, doctors failed to recognize that she had a genetic form of the condition. Two years after she first sought care, she was diagnosed with the SOD1 form of the di…

While traveling in Australia, Russ Walter was taken to the hospital and treated for heart palpitations. When he returned home, he soon lost the ability to walk. He was diagnosed with the rare autoimmune condition Guillian-Barre syndrome and spent three months in intensive care and rehabilitation. It would take nearly a year of physical therapy befo…

Organoids, three-dimensional cell models that can replicate an individual’s organs, are valuable tools for testing medicines that might treat their illness. It can, however, take up to $10,000 and a year to grow organoids using conventional methods from patient-derived induced pluripotent stem cells. Researchers at Children’s Mercy Kansas City’s Ge…

IgA nephropathy is a rare autoimmune kidney disease that can lead to the loss of kidney function. Though a number of treatment options exist today, none address the root cause of the disease and instead seek to manage symptoms, slow progression, or prevent complications. Vera Therapeutics’ experimental fusion protein atacicept, in a phase 2B study,…

When Katrina Rice’s son was diagnosed with the rare, hematological disorder sickle cell disease, she got to spend a lot of time understanding how a rare disease affects the daily life of people with a condition and their caregivers. Her son, now 28, has become a participant in clinical trials, and that’s further broadened Rice’s perspective as chie…

In 2023, Acadia Pharmaceuticals won approval for Daybue, the first and only treatment for the rare, neurodevelopmental disorder Rett syndrome. Daybue is not a cure and Acadia continues to pursue additional therapies for the condition including an antisense oligonucleotide therapy to upregulate a protein people with Rett syndrome lack. We spoke to E…

When Patty Keating had her thyroid removed, she experienced what she described as a “buzzing in her face,” had trouble sleeping, and felt anxious. Her symptoms grew worse and she had trouble climbing stairs. Then, six months later, her heart started racing, and her husband rushed her to the hospital, where tests showed she was having a heart attack…

Earlier this year iECURE reported that an infant with the rare and deadly liver disease OTC deficiency had a complete response to its experimental gene editing therapy. It is believed to be the time that an infant was treated with an in vivo, liver-directed gene editor. The treatment restored ammonia levels in the child’s blood to normal and the ch…

Healx, which developed an AI platform to repurpose drugs for rare diseases, is among the first generation of companies built on an AI drug discovery engine. The company’s lead experimental therapy, which the U.S. Food and Drug Administration granted Fast Track designation to in October 2024, is in mid-stage development for neurofibromatosis type 1,…

Primary immunodeficiency disorders include more than 400 conditions, and a growing number of people are being recognized as having them as a result of improved diagnostic tools and greater awareness among physicians. Most treatments for these conditions are plasma-derived therapies sourced from donors. We spoke to Joerg Schuettrumpf, chief scientif…

In November, Citizen Health unveiled itself with $14.5 million in funding and a partnership with the Chan Zuckerberg Initiative. A reinvention of what began life as Ciitizen, Citizen Health takes a sharp focus on rare disease, a departure from its precursor, which was initially envisioned as a tool for cancer patients to gather all of their health …

Michelle Teng, a techbio entrepreneur, co-founded the H-ABC Foundation after her daughter was diagnosed with the ultra-rare and fatal leukodystrophy. The foundation funded research that identified the causal mutation of the condition and pointed the way to a potential therapy. Teng later joined with Dan Williams to co-found SynaptixBio to advance t…

Gene therapies that use viral vectors generally are not redosable because once patients are exposed to the virus used to insert the gene, their immune system will become activated against them. Immusoft is using a patient’s own B cell and engineering them to produce needed proteins by transforming them into biofactories without the use of a viral v…

BridgeBio has been an innovator in applying portfolio theory to its business model as a way to broaden access to capital. The company recently had a big win with its approval for Attruby, its treatment for the rare condition transthyretin amyloidosis cardiomyopathy. The approval is a boost for the company, which, like many biotechs, had to scale ba…

The Genomic Answers for Kids program at Children's Mercy Kansas City has increased access to cutting-edge genomic sequencing for children suspected of having rare genetic diseases and improved the diagnostic yield of these tests. The program has collected samples from 8,000 rare disease patients and their family members and diagnosed about 2,000 pe…

Anthony Monaco takes part in weightlifting and crossfit competitions, but that came only after he was diagnosed at the age of 19 with the rare, neuromuscular condition Friedreich’s ataxia. As the condition progressed, he had to give up on his plans of becoming at tattoo artist. Once he became reliant on a wheelchair, he began to withdraw from the w…

Genethon, the non-profit gene therapy developer created by the patient association AFM-Telethon, began working with Sarepta Therapeutics in 2017 to develop a gene therapy for the rare neuromuscular condition Duchenne muscular dystrophy. Now that Sarepta has won approval for a separate gene therapy to treat the condition, Genethon is advancing devel…

In “More than We Expected: Five Years with a Remarkable Child,” James Robinson recounts the life and death of his son Nadav, who was born with a congenital heart condition. The book follows the family’s efforts to address and manage Nadav’s rare condition. As tragic as losing a child is, Robinson says his book is not a sad story. In fact, the book …

Noam Baumatz entered the world of gene therapy as a father in pursuit of a life-savings treatment for his daughter Noga, who was born with an ultra-rare immunodeficiency. Though she died before a treatment could be developed, Baumatz launched Noga Therapeutics to try to help others in the rare disease community. The company’s platform technology us…

The work of Boston Children’s Hospital’s Timothy Yu to develop a customized antisense oligonucleotide to treat Mila, a child with an ultra-rare neurodegenerative disease, created much excitement for the potential of N-of-1 therapies. Julia Vitarello, Mila’s mother, has talked about going from Mila to millions and co-founded EveryONE Medicines to en…

For some genetic diseases, there is not only the need to replace the function of a gene that is lost, but to also address toxicities that a mutated gene may cause. There is currently no available treatment targeting diseases that result from both loss and gain of function mutations. NGGT uses dual-functional vectors to simultaneously remove harmful…

Allison Freedman was an avid hiker, mother of young twins, and had just completed an MBA when she began suffering from severe back and rib pain and overwhelming fatigue. Repeated visits to the doctor and medical testing left her without a diagnosis. As her pain worsened, imaging revealed she had multiple broken ribs and vertebrae. At 42, a bone mar…

Despite advancements in genetic testing, people with rare diseases often face a prolonged diagnostic odyssey involving multiple physician visits and misdiagnoses. Genetic testing company GeneDX is working to shorten the path to a diagnosis by expanding access to sequencing, collaborating with researchers, and accumulating data to better understand …

Standard exome sequencing, which maps the protein coding regions of the genome, will deliver a diagnosis of someone with a rare disease in about 35 percent of cases. Ambry Genetics' ExomeReveal seeks to improve the diagnostic yield of these tests by adding RNA analysis to exome testing. That can help resolve variants of uncertain significance in ab…

Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing development of therapies to treat the rare, neurological disease. She co-founded and served as director of research for the Rett Syndrome Research Foundation. She later founded and today serves as CEO of the Rett Syndrome Research Trust. Her work…

Earlier this year, the company gained attention when it reported that developed a customized antisense oligonucleotide to treat a boy with an ultra-rare neurodevelopmental disorder in a year’s time. The company is leveraging AI to develop oligonucleotide medicines on demand. We spoke to Chris Hart, co-founder, president and CEO of Creyon Bio; about…

When Yiwei She’s son Leo was diagnosed with a severe neurodevelopmental condition, he was one of only two people known to have the ultra-rare disease. In a year, though, working with Creyon Bio, the family was able to move from the start of research for an ASO to treating Leo with the experimental therapy. We spoke to She, founder of the TNPO2 Foun…

Rare disease patient organizations are increasingly driving the discovery and development of therapies to treat the conditions on which they are focused. Organizations are seeking ways to accelerate these programs and advance them to the point where a biopharmaceutical partner might be willing to take them over. DevineBio was created to partner wit…

Gene therapies have emerged as an important and growing area of medicine, but various players in the healthcare continuum are trying to understand the unique development, regulatory, and other issues surrounding this emerging modality. Avery McIntosh and Alex Sverdlov, both biostatisticians, have edited the new book “Development of Gene Therapies: …

Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a test in the United Kingdom at no-cost to see if they carry mutations to one of more than 40 genes that would make it likely for them to develop the condition. Sano Genetics developed the test under a grant from Innovate UK. The…

Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The B…

Despite the growing demand for genomic data and the falling price of genome sequencing, costs continue to restrain its use. Single Technologies, which is developing a three-dimensional approach to sequencing, believes it can cut the cost to just $10 per genome for consumables. That’s a drop from estimates of about $600 today. We spoke to Johan Strö…