Researchers from the Rare Disease Translational Center joined family members and advocates for a panel focused on rare disease mouse modeling.
A medical diagnosis often comes with a dizzying amount of information: statistics, treatments and next steps. While overwhelming, this knowledge can help patients and their care team formulate a plan.
Imagine, though, receiving a diagnosis without any of this information - without a known treatment plan, or even a prognosis. Imagine a medical provider telling you that your child is one of only a few known cases in the world, and saying, “I’m sorry, there’s nothing else we can do right now.”
When it comes to rare diseases, that is the jarring reality that many families experience when their child is first diagnosed. At the annual Rare New England Conference, held last week at The Jackson Laboratory (JAX) in Farmington, Conn., families, researchers, clinicians, industry professionals and advocacy groups came together to strategize on how to improve that reality, and – together – find real-world solutions for those affected by rare disease.
It is estimated that there are more than 7,000 known rare diseases and over 90 percent of those don’t have an FDA-approved therapy. Between 50 and 75 percent of rare diseases impact children – about 30 percent of those affected die before their fifth birthday.
Rare New England (RNE), a non-profit organization that unites New England’s rare disease patients, families and providers through a range of impactful programming, organizes the annual conference as a platform to foster these meaningful discussions, strengthen connections, and forge new ones in the rare disease world.
This year’s conference featured a robust roster of speakers and panelists including researchers from JAX and Yale, industry leaders from rare disease-focused biotechs, including Rallybio and Sanius Health and families who have been through personal healthcare odysseys and are willing to share their stories to help make the system better.
“The diagnosis didn’t feel like an answer, it felt like a monster,” said Jocelyn Duff, executive director and co-founder of CureCMT4J during a JAX panel on rare disease mouse modeling, moderated by Rebecca Smith, clinical research project manager in the Laboratory’s
Rare Disease Translational Center. After a six-year misdiagnosis, Duff’s daughter, Talia, was diagnosed with the rare disease, a tiny subset of Charcot-Marie-Tooth (CMT) disease – at that time there were only 22 known cases worldwide. The progressive neuromuscular disease can cause muscle weakness, joint deformities and respiratory compromise, making common illnesses like the cold or a flu devastating.
The Duff family worked with Cat Lutz, Ph.D., MBA, vice president of JAX’s Rare Disease Translational Center, and her team to develop a mouse model to study the disease, and has been working with JAX ever since.
“Cat was a pivotal player,” said Duff. “I can’t say enough about JAX – JAX has been with us every step of the way. I ask and they show up – and it’s just an amazing partnership.”
Maximiliano Presa, Ph.D., senior study director at JAX, sat on the panel with Duff, and shared some of the ways that JAX helps individual rare disease patients by working with mouse models that mimic their conditions – in some cases that means creating a new mouse line, engineered to match a particular patient’s exact DNA.
“I wanted to do something that was close to patients,” Presa said, when asked by an audience member about why he chose this line of research. “I think that kind of work is the most important. Everything we do is with the goal of bringing something beneficial to the lives of these patients. It really inspires me – it’s a mission.”
As a premier research partner, the JAX Rare Disease Translational Center serves those with rare disease by accelerating the pre-clinical phase. The goal of the center is to provide patients with an efficient path from diagnosis to therapy, allowing them to live longer, healthier lives. JAX is a proud convener in the rare disease space, and earlier in 2024 hosted the Connecticut Rare Disease Forum, which brought together leaders from biotech and pharmaceutical companies, as well as patient advocates and the public, to explore advancements and challenges in the field with a focus on diagnostics, treatments and collaboration.
Andrew Miner, of the YWHAG Foundation also shared his story on the JAX panel. His son, James, was diagnosed with a single genetic mutation – YWHAG – that caused him to have devastating episodes of epilepsy as a young child. Like the Duff family, the Miner family started the foundation to find answers for their son’s ultra-rare condition. There were only about 40 other cases worldwide when James was diagnosed at the age of three.
Miner and Duff spoke about the challenges of being a rare disease family, including the never-ending pursuit of funding, which can be hard to come by for such unknown diseases. They shared stories about the scrappy, dogged dedication it takes as a parent of a child with a rare disease; the successes and challenges associated with launching bake sales, gaining social media followers and making cold calls to researchers to discover some – any – way forward in an unexplored medical landscape.
“I have no science background whatsoever,” Miner told the crowd. “I spent late hours reading research papers and emailing scientists. But hope is what keeps moving you forward – hope to give my son what he needs to lead something like a normal life. Rare diseases are hard, but if you have hope that you can change the outcome of your kids’ future, it can be done.”
About The Jackson Laboratory’s Rare Disease Translational Center
The Jackson Laboratory is an independent, nonprofit biomedical research institution with nearly 3,000 employees in locations across the United States, Japan and China. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. The Rare Disease Translational Center serves that mission by empowering rare disease solutions through partnership, innovation, and scaled pre-clinical pipelines to deliver targeted therapies from lab to clinic swiftly and effectively. The center aims to provide patients with an efficient path from diagnosis to therapy, allowing them to live longer, healthier lives.