News and Trends 10 Feb 2023 Janssen reports positive topline phase 2 HDFN results The Janssen Pharmaceutical Companies of Johnson & Johnson has announced positive topline results from the proof-of-concept phase 2 open-label UNITY clinical trial for the treatment of pregnant adults at high risk for severe hemolytic disease of the fetus and newborn (HDFN). HDFN is a serious and rare condition that can cause life-threatening anemia in the […] February 10, 2023 - 3 minutesmins - By Jim Cornall Share WhatsApp Twitter Linkedin Email
News and Trends 19 Jan 2023 Hundreds of genetic discoveries from FinnGen study New results from the FinnGen research consortium include previously unknown genetic risk factors for many debilitating diseases. These findings have potential to facilitate the development of new therapies. Since initiation in 2017, the FinnGen study has developed into one of the world’s leading biobank-based genomic research projects. Currently, FinnGen is completing the construction of a […] January 19, 2023 - 4 minutesmins - By Jim Cornall Share WhatsApp Twitter Linkedin Email
In Depth 11 Jan 2023 Drug repurposing emerges as viable option for rare disease treatment With few options available for the treatment of rare diseases, the practice of drug repurposing has gained traction as an effective strategy. With genome sequencing revealing new rare diseases, it is now known that at least 5% of the world population lives with a rare disease. Drug development must pick up the pace to keep […] January 11, 2023 - 7 minutesmins - By Sachin Rawat Share WhatsApp Twitter Linkedin Email
Opinion 12 Dec 2022 Artificial intelligence: a new era in rare genetic disease diagnosis Despite the onset of the genomics era, rare disease diagnosis remains a challenge. Nostos Genomics’ co-founder, Rocío Acuña Hidalgo, and chief operating officer, Ansgar Lange, shed light on how artificial intelligence (AI) could fill in the gaps. It is estimated that 300 million people worldwide are affected by rare diseases and around 80% of these […] December 12, 2022 - 6 minutesmins - By External Contributor Share WhatsApp Twitter Linkedin Email
News and Trends 7 Dec 2022 PacBio and Boston Children’s Hospital to study genome to benefit patients PacBio, a developer of sequencing solutions, says its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital in the U.S. Boston Children’s Hospital researchers will use HiFi whole-genome sequencing (HiFi WGS) for the purpose of investigating genetic and epigenetic variants associated with […] December 7, 2022 - 3 minutesmins - By Jim Cornall Share WhatsApp Twitter Linkedin Email
News and Trends 2 Dec 2022 Khondrion’s sonlicromanol produces encouraging results for next stage of study Biopharma company, Khondrion, has marked announced improvements from patients with MELAS spectrum disorders taking its lead asset, sonlicromanol. Updates were provided by the company from a 28-day double-blind, randomized placebo-controlled, three-way cross-over phase 2b study called KHNERGYZE in which 27 took part. It also reported updates on the ongoing, open-label extension KHEREREXT phase 2b study […] December 2, 2022 - 2 minutesmins - By Liza Laws Share WhatsApp Twitter Linkedin Email
News and Trends 24 Nov 2022 Gene therapy approval “game changer” in hemophilia B treatment The approval of CSL’s gene therapy Hemgenix has ushered in a new era for hemophilia B treatment. With the addition of other approvals like Rocktavian and Upstaza, 2022 could be a turning point for the broader gene therapy field. Earlier this week, etranacogene dezaparvovec (Hemgenix) made history as the first gene therapy approved by the […] November 24, 2022 - 7 minutesmins - By Jonathan Smith Share WhatsApp Twitter Linkedin Email
News and Trends 23 Nov 2022 Khondrion’s mitochondrial diseases treatment producing positive results Clinical-stage pharmaceutical company, Khondrion, discovering and developing therapies targeting primary mitochondrial diseases announced yesterday (November 22) its wholly-owned lead asset sonlicromanol for MELAS spectrum disorder has demonstrated positive treatment results. MELAS spectrum disorder is a rare progressive mitochondrial disease and sonlicromanol will move into a phase 3 registrational study supported by favorable benefit-risk profile. The […] November 23, 2022 - 5 minutesmins - By Liza Laws Share WhatsApp Twitter Linkedin Email
News and Trends 15 Nov 2022 Avanzanite Bioscience looks to commercialize innovative medicines for rare diseases in Europe Avanzanite Bioscience B.V. has officially launched its commercial-stage enterprise, to expand patient access to medicines for rare diseases in Europe while unlocking revenue and growth potential for emerging research-based biopharmaceutical originators. Avanzanite, a fully authorized distributor of medicinal products, partners with biopharmaceutical collaborators through flexible, bespoke licensing and distribution partnerships across Europe. The company’s business […] November 15, 2022 - 3 minutesmins - By Jim Cornall Share WhatsApp Twitter Linkedin Email
News and Trends 14 Nov 2022 A new treatment for tackling epidermolysis bullosa By Jordi Casals, president, EMEA, Amryt Pharma Epidermolysis bullosa (EB), sometimes described as “the worst disease you’ve never heard of,” is a group of rare and distressing inherited skin disorders primarily diagnosed in young children. The genetic mutations that cause EB can result in the skin being extremely fragile. Any physical contact with the skin […] November 14, 2022 - 3 minutesmins - By External Contributor Share WhatsApp Twitter Linkedin Email
News and Trends 14 Nov 2022 InfanDx tackles early detection of hypoxic ischemic encephalopathy InfanDx AG, a privately held diagnostics company focusing on the development and commercialization of novel diagnostic solutions for newborns, has completed the validation of metabolic biomarker panels for the early detection of hypoxic ischemic encephalopathy (HIE) in newborns. The validated biomarkers of such panels will be the target of the company’s HypoxE blood test for […] November 14, 2022 - 8 minutesmins - By Jim Cornall Share WhatsApp Twitter Linkedin Email
News and Trends 14 Nov 2022 A biotech boom manifesting real results in rare pediatric diseases By Bob Coughlin, managing director, life sciences, JLL For the last two years, the pandemic has resulted in the explosive growth in life sciences. The world watched in awe and anticipation as biotech successfully raced to develop vaccines, therapeutics and diagnostics for Covid-19. It has been a good moment for an industry that deserves such […] November 14, 2022 - 5 minutesmins - By External Contributor Share WhatsApp Twitter Linkedin Email