Complete Coverage
NATIONAL HARBOR, Maryland — Gene editing is one of the more recent novel approaches in the world of rare disease therapies. At the 2021 World Orphan Drug Congress, LogicBio Therapeutics presented its innovative nuclease-free approach to gene editing called GeneRideTM, which involves a synthesized viral vector to deliver the corrective transgene to a precise and…
NATIONAL HARBOR, Maryland — The top official for rare disease therapies at the European Medicines Agency (EMA) said her office is seeing a steadily increasing number of applications for new therapies despite the disruptions caused by the COVID-19 pandemic. Violeta Stoyanova-Beninska, MD, PhD, chairs the Committee for Orphan Medicinal Products (COMP) at EMA, the European counterpart to the…
NATIONAL HARBOR, Maryland — One of the biggest drawbacks of gene therapy for rare diseases, besides the price factor, is that it’s generally considered a “one-and-done” that offers no opportunity for redosing as the patient grows. But Generation Bio, a preclinical biotech company based in Cambridge, Massachusetts, thinks it may have found a way around that.…
NATIONAL HARBOR, Maryland — Genetic counseling is today one of the most rapidly expanding professions in health care, according to an industry expert focusing on rare diseases. “We see astronomical growth in the things we can test for, and in the number of labs,” said Gillian W. Hooker, PhD, vice president of clinical development at Concert…
Georgianne Arnold, MD, an expert on newborn screening, says the practice clearly saves lives, yet raises ethical concerns.
NATIONAL HARBOR, Maryland — Access to therapies for rare disease patients varies greatly from one region of the world to another, with ultra-rare diseases generally requiring ultra-expensive drugs to treat them — if a therapy is available at all. On August 27, 2021, the final day of the World Orphan Drug Congress USA 2021, a trio…
NATIONAL HARBOR, Maryland — Simon Frost knows all too well what it’s like to have a child with a rare disease, and how incredibly expensive it is to come up with a cure. His daughter, Annabel, has alternating hemiplegia of childhood (AHC), a genetic disorder that affects only 900 children around the world. Simon and…
NATIONAL HARBOR, Maryland — A crucial part of getting new therapies approved by the US Food and Drug Administration (FDA) is having regulatory-caliber natural history studies of the disease a given therapy is designed to treat. That was the message delivered by Lucas Kempf, MD, when he spoke at an August 26, 2021, roundtable during…
NATIONAL HARBOR, Maryland — The “highest quality science is inclusive,” Nadia Bodkin, PharmD, founder of the Rare Advocacy Movement (RAM), told participants of a roundtable discussion at the 2021 World Orphan Drug Congress. RAM sponsors and encourages patient activism and collaboration at a grassroots level. One such collaborative effort was the Our Lives Matter (OLM)…
The success of adeno-associated virus (AAV) vectors in delivering gene therapy is well-documented, but the use of lentiviral vectors in gene therapy may be particularly suited to a number of rare lysosomal disorders. Geoff Mackay, president and CEO of Avrobio, spoke about the emerging technology on August 26, 2021, the second day of the 3-day World…
NATIONAL HARBOR, Maryland — “Technology is running ahead of regulatory understanding, but science fueled by genomics will drive it and address close to 80% of rare diseases,” Mo Heidaran, PhD, vice president of technical and regulatory consulting at Parexel International Biotech, said in a session at the 2021 World Orphan Drug Congress. The majority of…
NATIONAL HARBOR, Maryland — The momentum in favor of cell and gene therapies has the potential to successfully treat an estimated 80% of rare diseases caused by genetic mutations, Mo Heidaran, PhD, vice president of technical and regulatory consulting at Parexel International Biotech, said at a discussion at the 2021 World Orphan Drug Congress. The…
NATIONAL HARBOR, Maryland — Despite the ravages of COVID-19, the future has never looked brighter for the world’s estimated 300 million people with rare diseases, a top executive at Sanofi Genzyme suggested. Shannon Resetich, the company’s global franchise head for rare diseases, spoke on August 26, 2021, at the opening of the World Orphan Drug…
NATIONAL HARBOR, Maryland — Clinical development in the world of rare diseases is “on the verge of tremendous progress, with increased understanding of inherited and acquired genetic diseases,” Janet Woodcock, MD, acting commissioner of the US Food and Drug Administration (FDA) said at the 2021 World Orphan Drug Congress, as she answered questions posed by…
NATIONAL HARBOR, Maryland — One of the commonly used phrases in the rare disease community describes a patient’s “diagnostic odyssey” – a term that denotes the length of time, number of providers, frequent misdiagnoses, and emotional turmoil that accompanies the journey to obtaining an accurate diagnosis of a rare disease. Multiple organizations, researchers, scientists, curators,…
