Metatropic Dwarfism

A new biotechnology startup is getting help from an unusual partner in its attempt to develop rare disease drugs that could also treat more common conditions.Actio Biosciences, which launched Tuesday with $55 million in venture funding, is working with The Jackson Laboratory to engineer mouse models that better recapitulate diseases, potentially allowing Actio scientists to more accurately vet would-be drugs.The Bar Harbor, Maine-based Jackson, or Jax a top supplier of lab mice helped develop an animal model Actio is using to study a target called TRPV4. The San Diego startup believes TRPV4, an ion channel protein, could be important for treating a degenerative nerve disease called Charcot-Marie-Tooth.We want to be able to really derisk the biology for the target before we ever get into the clinic, said David Goldstein, Actios co-founder and CEO, in an interview. And that means that we need to be able to really understand how mutations cause disease, which is often very complicated.Goldsteins vision is to pick rare disease drug targets that are also relevant to conditions affecting larger groups of people. Jaxs models could give Actio the tools to make that jump, which many drugmakers aspire to, more reliably.The theme of starting with a more homogeneous disease setting and then moving out into a broader population is certainly something that's been around for decades, said Goldstein. But our particular approach to doing that is to develop a framework that really can effectively start with 4,000 different Mendelian disease genes, and pull out the ones that really represent the best opportunities.According to Goldstein, the pace of research into Mendelian diseases single gene disorders like cystic fibrosis and sickle cell has moderated after a period of rapid discoveries enabled by genetic sequencing. His view was shared by Lon Cardon, who moved from BioMarin Pharmaceutical to become Jaxs CEO at the same time Goldstein left Columbia University to found Actio. A phone call between them helped start Jax and Actios partnership, Goldstein said.For us at Jax, we believe this collaboration with Actio will help to serve the rare disease community in transformative ways, to build a bridge of preclinical work to therapies that are desperately needed, said Cat Lutz, head of Jaxs rare disease translational center, in an emailed statement.Charcot-Marie-Tooth, Actios first target, was already familiar to Jax. The center created a mouse model of another form of the disease called Type 4J that was recently selected for a gene therapy research partnership led by The Foundation for the National Institutes of Health.Actio is aiming at another form, Type 2C, that causes severe muscle weakness and respiratory complications. The company believes its choice of target, a gene called TRPV4, could also play a rose in serious bone diseases like metatropic dysplasia.The Series A funding Actio announced Tuesday is meant to get the TRPV4 program into the first stages of clinical testing, and make meaningful progress on at least one other program, Goldstein said. The round was led by Canaan and Droia Ventures, and also involved existing investors Deerfield Management and EcoR1.The company is being advised by a board that includes Droias George Golumbeski, who led business development at Celgene for many years, as well as John McHutchinson, formerly the CEO of Assembly Bio and, before that, Gileads top scientist. '

Deploying a suite of proprietary tools and deep genetics expertise to develop therapeutics against targets shared between rare and more prevalent diseases Lead small molecule program targeting TRPV4 mutations advancing toward clinic for treatment of Charcot-Marie-Tooth disease type 2C and other serious bone diseases Innovative partnership with The Jackson Laboratory to develop and implement new transgenic models of rare disease pathways Investor syndicate comprised of leading healthcare investors, including Canaan, Deerfield Management, DROIA Ventures, EcoR1 and Euclidean Capital SAN DIEGO--(BUSINESS WIRE)-- Actio Biosciences, a biotechnology company leveraging a novel platform approach to genetics and precision medicine to develop new therapeutics that target shared underlying biology in both rare and common diseases, today announced the completion of a $55 million Series A financing. The financing was led by Canaan and DROIA Ventures, with participation from existing investors Deerfield Management and EcoR1, as well as new investor Euclidean Capital. “Defining a high-impact drug target for a common disease with a heterogenous population has a very low probability of success and has long been a major challenge for drug discovery,” said David Goldstein, Ph.D., co-founder and CEO of Actio. “By starting with a focus on rare diseases, we gain invaluable insights that not only define new therapeutic benefits in high-need indications but also de-risk and guide therapeutic expansion to more common conditions, benefiting even more patients. We are thrilled to have the backing of this esteemed group of investors, along with our world-class team, whose collective support will enable the advancement of our programs to bring life-changing medicines to those that need them most.” Nina Kjellson, board member and general partner at Canaan, commented, “In today’s financing environment, investors can be quite selective where to place our bets. At Canaan, we had a thesis in precision genetics, and Actio stood out for scientific excellence, a seasoned team and very impressive pipeline progress in the short time since inception. We are passionate about investing in teams that have deep, relevant expertise, yet aren’t afraid to tackle the hard problems from new angles and with multidisciplinary approaches.” A Precision Approach to Medicine – From One to Many While it is well known that a single gene can lead to rare disease, the function of mutations in those single genes and how they might be modulated for therapeutic intervention is often not well understood. To overcome this and better utilize the breadth of genetic information now available for drug discovery and development, Actio is leveraging its human genetics platform to identify relevant disease targets, understand their function in disease and create medicines that modulate them. The company’s platform comprises a vast proprietary target database, called the Rare Disease Target Atlas, and unparalleled expertise in bioinformatics, biology and chemistry. Actio will initially focus on identifying targets and advancing programs for rare disease indications and plans to leverage insights throughout the development process to inform potential relevance of those targets in more common diseases. The company has established a partnership with the Rare Disease Translational Center at The Jackson Laboratory (JAX), a leading nonprofit biomedical research institution, dedicated to understanding the molecular underpinning of rare diseases and their treatments. Actio is partnering with JAX to evaluate targets and phenotypes of interest in high-quality genetically engineered mouse models at scale, enabling a high level of confidence in the outcomes observed. Actio is also collaborating with prominent academic centers to provide further validation of the role of certain genes in disease, as well as insights into disease pathology to better inform the design of preclinical studies, rare patient natural history studies and future clinical trials. Lead Program Targeting TRPV4 Advancing Toward the Clinic Actio’s pipeline is led by a program targeting TRPV4, an ion channel target identified as high-value through the company’s platform. Actio plans to initially evaluate it for the treatment of rare diseases caused by TRPV4 mutations, including Charcot-Marie-Tooth disease type 2C (CMT2C), characterized by severe muscle weakness, vocal cord paresis and respiratory complications, as well as serious bone diseases, such as metatropic dysplasia. Evaluation of this program in novel construct-valid preclinical TRPV4 rare disease models has demonstrated marked improvements in motor function, mobility and bone morphology, as well as increased lifespan compared to untreated controls. “Since our founding, we’ve built a proprietary platform designed to de-risk targets of interest and establish biological connections between rare and common disease states that is unlike anything else in the industry today,” said John McHutchison, AO, M.D., co-founder and board member of Actio. “That work has led to the prioritization of several high-value targets, including our lead TRPV4, program for the treatment of CMT2C and other bone diseases with high unmet need. Beyond this program, we are working expeditiously to expand our pipeline and have identified two additional programs that we plan to evaluate for genetic epilepsies and genetic skin conditions.” Distinguished Founders and Leadership Actio was founded by human genetics expert David Goldstein, Ph.D., who serves as the company’s CEO and a board member, and pioneering drug developer John McHutchison, AO, M.D., who also serves as a board member. The full Actio leadership team and board include the following: Leadership Team David Goldstein, Ph.D., co-founder and CEO David Breckenridge, Ph.D., chief scientific officer John Link, Ph.D., senior advisor, drug discovery Sunil Sahdeo, Ph.D., vice president, biology Nick Stock, Ph.D., senior vice president, chemistry Ali Torkamani, Ph.D., vice president, bioinformatics and genetics Anne Sandan, CPA, vice president, human resources and finance operations Board of Directors George Golumbeski, Ph.D., board chairman and partner, DROIA Ventures Jason Fuller, Ph.D., board member and partner, Deerfield Management David Goldstein, Ph.D., board member and CEO, Actio Nina Kjellson, board member and general partner, Canaan John McHutchison, AO, M.D., board member and co-founder, Actio Alex Tkachenko, Ph.D., board member and executive in residence, EcoR1 “The Actio team is comprised of proven geneticists and drug hunters that have both the expertise and drive to advance a company rooted in the science of precision medicine, with a big-picture vision of translating that science into medicines that could ultimately address the most common diseases,” said Dr. Golumbeski, board chairman and partner at DROIA Ventures. “DROIA is honored to partner with this team to advance a platform and pipeline that could change the trajectory of how we leverage the complexities of biology and human genetics to create promising new therapies.” About Actio Biosciences Actio Biosciences is leveraging advances in precision medicine to develop new therapeutics that target shared genetics in rare and common diseases—bringing meaningful medicines from one to many. Applying its expertise in genetics, drug discovery and data sciences, Actio seeks to identify programs where both biological and technical risk can be minimized to streamline the drug development process and bring forward exceptionally potent and precisely targeted therapeutics. Founded in October 2021, the San Diego-based company is led by leaders in genetics and drug development and backed by top healthcare investors. For more information, please visit ActioBiosciences.com. View source version on businesswire.com: Contacts Katie Engleman, 1AB katie@1abmedia.com Source: Actio Biosciences View this news release online at: