Mahzi Therapeutics, Inc.

Two years ago, GeneDx was teetering. The genetic testing company had laid off 33% of its staff, shares were down 90% from a year prior, and some investors were skeptical of a turnaround plan. Since then, GeneDx has quietly managed a comeback. Its core business of pinpointing tough-to-diagnose diseases is thriving, the stock has bounced back, and it’s trying to broaden its business by using its genetic and clinical data to help drugmakers hunt for new medicines. “We’re a small part of the rare disease journey in that we diagnose disease,” GeneDx CEO Katherine Stueland told Endpoints News in an interview. “And we’re really turning our attention to how we can work more effectively in the ecosystem and put our data to work in other ways.” Those “other ways” include discovering drugs, which might be the most intriguing idea — and the hardest. Companies have long used genetic findings as the springboard for new medicines, but GeneDx is betting its data will provide a surer path. The strategy has echoes of 23andMe, a genetic testing company that has struggled to pivot to medicine. Like 23andMe, GeneDx is helping drugmakers find new targets and refine their approaches. Unlike 23andMe, GeneDx hasn’t sought to develop its own drugs. The plan to help discover drugs began with GeneDx’s core business of finding mystery ailments afflicting children. Unlike other companies that test broad populations to hunt for known diseases using a small menu of genetic markers, GeneDx sequences a patient’s whole genome or exome, the part responsible for many genetic diseases. Results are run through the company’s database, which includes genetic and clinical data from hundreds of thousands of rare disease patients. Once a diagnosis is found, patients often contend with a harsh statistic: An estimated 95% of rare diseases lack a treatment, according to the advocacy group Global Genes. GeneDx connects patients to clinical trials or resources to jump-start medicines. But the company realized it could go further by letting drugmakers tap its rich database for leads. Last month, the company launched a new offering, called GeneDx Discover. It’s a searchable version of its database that can zero in on variants that drive rare conditions, and maybe even common ones. GeneDx has placed a molecular bullseye on so many mutations that its data could tease out the drivers of a wide set of diseases. For GeneDx, drug discovery is more of an opportunity right now than a major source of business. But if successful, the company could go from a comeback story to a much bigger force in the rare disease field. 23andMe is the highest-profile example of a genetics company that developed a huge dataset and then tried to pivot into becoming a therapeutics company. The idea was perhaps most appealing when drug developers were just starting to unlock genetic information to create precise new drugs. 23andMe’s tests, which are primarily marketed to consumers, look at just a small part of the genetic picture. The company analyzes DNA misspellings called single nucleotide polymorphisms, or known as SNPs. Harvard geneticist George Church, who advised 23andMe from 2008 to 2015, recommended that the company seek more in-depth genetic data. But during this time frame, the cost was prohibitive, and 23andMe found itself locked into its business model of detecting ancestral origins and some health conditions. “They just kept doubling down on the SNPs because they were inexpensive, and they did have first-mover advantage,” Church said in an interview. After stalled growth and growing expenses, 23andMe announced in November that it was closing its therapeutics division . But the company is still helping companies find new drug targets, and seeking partners for its two drugs in clinical trials. 23andMe’s power could prove to be in aggregating data from millions of people. High-resolution genetic data aren’t always as critical when targeting more common diseases that stem from a variety of interacting mechanisms. “We are a big supporter of GeneDx, and believe their comprehensive database focused on rare diseases is complementary to 23andMe’s large-scale genetic dataset,” 23andMe said in a statement. Mahzi Therapeutics, a company focused on neurodevelopmental disorders, used GeneDx to develop three of its rare disease therapies that are at the preclinical stage. The company knew the conditions it wanted to target, but GeneDx’s database provided a closer look at the genetic underpinnings. “We need to understand the targets on the gene. By getting exome or genome data, we have much more information,” Mahzi CEO Yael Weiss said. But detailed genetic information is far from a panacea. Even when a genetic variant is linked to a disease, it can still be difficult for drug hunters to hit a designated target. GeneDx’s database also allows drugmakers to find links between genotypes and phenotypes, the physical manifestation of genes. An understanding of the relationship helps drugmakers understand which variants to correct and helps in testing compounds. “GeneDx offers a different approach because there’s a lot more information than just the genetic sequence. There’s a lot of clinical information,” Weiss said. The company’s data are aggregated and de-identified. Patients must give the OK for drugmakers to access deeper levels of information, like their genomes. With an explosion in genetic data and accompanying privacy concerns, GeneDx’s website says the company uses “a range of physical, technical and administrative safeguards to secure personally identifiable information.” GeneDx isn’t alone in trying to spark new drugs from large datasets paired with high-resolution data. Regeneron sequenced exomes and genomes from more than 1.5 million people and notably found genes that appear to protect against obesity. The company seized on the discoveries to develop potential weight loss medicines . “We really think you need to look at millions of people, even for the common diseases, to find these unique things that could really dramatically change your outcomes,” Regeneron’s chief genomics and data science officer Gonçalo Abecasis said. Companies are also layering in data from other sources like the proteome , the body’s collection of proteins, to find new medicines and diagnostics. GeneDx was founded in 2000, around six years before 23andMe, by two National Institutes of Health scientists aiming to diagnose rare conditions. As it grew, it expanded into testing for everything from Covid-19 to reproductive health issues to breast cancer. In 2022, the artificial intelligence company Sema4 acquired GeneDx and the new owners urged focus. The company was unprofitable and part of a diagnostics trend of “trying to be all things to all people,” Stueland said. After much introspection, GeneDx laid off 700 workers and zeroed in on its original mission of diagnosing rare conditions. Investors didn’t initially love the moves. GeneDx’s stock plummeted to the point where the company last year was almost kicked off the Nasdaq market. “It was a daunting experience to decide where to focus,” Stueland said. “But it became super-clear to us as a management team, to us as a board, that we were going to deploy capital towards the area where we had the distinct strength.” Since then, the company has tapped into growing demand at hospitals for pediatric DNA sequencing. The increasing evidence for comprehensive testing has differentiated GeneDx from 23andMe in another way: getting paid. Increasingly, insurers and government health programs cover GeneDx’s tests. With more ordering of the company’s genome and exome tests, GeneDx recently reported $77 million in quarterly revenue, and reached profitability for the first time. It now has 900 employees, is the leading player in the niche market, and its stock trades north of $75 a share. Newborns typically have their heel pricked for blood to find up to 50 genetic diseases. But the testing misses thousands of other conditions, often rare or ultra-rare ones that aren’t known to many doctors and don’t make it into those tests. On average, it takes rare disease patients six years to get diagnosed, what’s known as the diagnostic odyssey. GeneDx finds answers through not only comprehensive genetic testing for patients, but also by testing their parents and collecting doctor notes for more genetic clues. Results are checked against its database with 700,000 samples. Once a disease is pinpointed, those data help find the next diagnosis. “We’re doing the really hard job of going into each and every gene to search and identify a mutation that is causing the underlying disease,” Stueland said. Stock analysts expect more growth because the company has just started to crack the newborn testing market. It’s a chance to move from sequencing the relatively narrow number of young patients with signs of illness, to a far larger group of healthy newborns. The company is part of research that found 3.7% of the first 4,000 newborns who underwent whole-genome sequencing had a positive test for a genetic disease, but most of those diseases weren’t included in a list of diseases that are currently screened for. That study, called Guardian, was published in October in JAMA . GeneDx has found that some common diseases are a constellation of genetic diagnoses. That could be useful for drug discovery purposes, along with another aim. The company wants to diagnose Parkinson’s and other conditions earlier, though it hasn’t detailed plans in this area. “We’re really placing a bet on our ability to be really great at taking a genome’s worth of information and putting it to work for as many people as possible,” Stueland said.

STAMFORD, Conn., May 23, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced that it will participate in multiple presentations at the World Orphan Drug Congress in Washington, D.C., May 23-25, 2023. The keynote session will highlight how GeneDx’s deeply curated, 20 plus year genomic dataset combined with strong research and development experience of a biopharma partner accelerates drug development programs. Amanda Singleton, Head of Biopharma and Strategic Partnerships and Vinnie Ustach, Applied Computational Biology Lead, both from GeneDx, will be joined by Jennifer Panagoulias, Chief Regulatory and Compliance Officer of Mahzi Therapeutics for the keynote lunch, “Leveraging Clinical and Genomic Data to Advance Drug Development Programs,” on Thursday, May 25, 1:30-1:50 p.m. ET. The panel will discuss how the company’s partnership with Mahzi Therapeutics has helped advance IND-enabling activities and clinical development for the company’s WWOX and CHD2-related drug candidates. “We are continuing to accelerate broad adoption of exome and genome sequencing to shorten the diagnostic odyssey for patients and empower them with a genomic-based diagnosis so they can spend less time searching for answers and more time focused on a potential treatment plan,” said Katherine Stueland, President, and Chief Executive Officer at GeneDx. “Our work with Mahzi Therapeutics is a prime example of how we are going a step further with the broader ecosystem of biopharma, using our rich genomic dataset to uncover new patient insights that are helping to advance development pipelines and bring new therapies to market for rare genetic neurodevelopmental disease candidates with no approved treatments.” “Using the GeneDx dataset, we have been able to access genomic and phenotypic data of patients otherwise not available, which has accelerated our drug development work and supported regulatory submissions and clinical program development for our WWOX and CHD2 drug candidates,” said Yael Weiss, M.D., Ph.D., Chief Executive Officer, and Founder of Mahzi Therapeutics. “We look forward to our continued partnership with GeneDx to help us deliver on our mission and bring new therapies to market for patients with rare genetic neurodevelopmental disorders.” Kareem Saad, Chief Transformation Officer at GeneDx will also participate in a panel discussion at the World Orphan Drug Congress, “Current Best Practices for Diversity in Clinical Trials: Taking a Holistic Look at Inclusivity, Outreach and Engagement” on Thursday, May 25, 12:10 p.m. - 12:50 p.m. ET. To learn more about partnering with GeneDx for biopharmaceutical, academic research, and patient advocacy collaborations, please visit . About GeneDx GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation, fueled by one of the world’s largest, rare disease data sets. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, Twitter, and Instagram. About Mahzi Therapeutics Mahzi is a private, venture-backed biotechnology company that focuses on genetic therapies for rare genetic neurodevelopmental disorders. Based on the Greek word for ‘Together’, Mahzi unites patient and family groups, academic researchers, diagnostic companies, other industry members, and its internal team of experts to develop therapies for patients with these serious diseases. Investor Relations Contact: Tricia Truehart Investors@GeneDx.com Media Contact: Maurissa Messier Press@GeneDx.com

ORLANDO, Fla., May 3, 2023 /PRNewswire/ -- Coalition to Cure CHD2 (CCC) is pleased to announce its first-ever international research symposium and family conference to be held on June 2nd – 4th at Disney's Coronado Springs Resort in Lake Buena Vista, Florida. CCC is a nonprofit organization dedicated to supporting and advancing research in CHD2-related disorders, a rare genetic condition that can severely affect the quality of life of those living with it. Certain changes in the CHD2 gene often result in refractory epilepsy, intellectual and developmental delays, and autism. To date, no treatments exist for CHD2-related disorders, but CCC is leading the charge to change that as soon as possible. CCC's upcoming conference will bring together families, researchers, clinicians, and industry partners from all over the world to collaborate on advancing research in CHD2-related disorders. The event will host CHD2 researchers from more than six countries across three continents. The family conference portion of the event will bring together more than 100 family members and researchers from around the world to discuss and learn about the latest research in CHD2. Families in attendance will also be able to share their triumphs and struggles with each other and learn from the experts how to manage this disease. For the scientists in attendance, they will have the opportunity to meet in-person with CHD2 patients and their families to learn firsthand what it is truly like to live with this debilitating condition. CCC's international research symposium and family conference would not be possible without the endless planning hours of CCC's purely volunteer-led board of directors, and for the financial support of CCC's corporate sponsors: Mahzi Therapeutics, CURE Epilepsy, Epilepsy Alliance Florida, GeneDx, Invitae/Ciitizen, and Thisbe & Noah. Attendance at the family conference can be either in person or virtual. To view the agenda and register to attend the conference, please visit . For more information about CCC and CHD2-related disorders, please visit . SOURCE Coalition to Cure CHD2