Rare Disease Day 2024 pays tribute to the 300 million people worldwide navigating life with rare diseases. It’s a day to honor their incredible strength and resilience and spotlight the myriad challenges they encounter. It’s also an opportunity to raise awareness of the pressing need for advances in rare disease research, diagnosis, and treatment.
Understanding the Rare Disease Landscape
Although a staggering 72% of rare diseases are genetically based, diagnosing them remains difficult, often taking years, due to the complexities of identifying disease-causing genes and their variants. Sadly, delayed, missed, and incorrect diagnoses causing life-threatening consequences are common occurrences for rare disease patients, underscoring the critical need for improved detection methods. Furthermore, even after diagnosis, more than 95% of rare diseases lack a cure or FDA-approved treatment, leaving patients vulnerable to severe complications if not properly managed.
However, amidst these challenges, there is hope. Groundbreaking research projects are underway here at PNRI and around the world, leveraging the latest discoveries in genetics and innovative DNA sequencing technology to accelerate the diagnosis and treatment of rare diseases. These projects are spearheaded by dedicated teams in the Carvalho Lab and the Dudley Lab at PNRI, who are at the forefront of innovation in rare disease research.
“We recognize that if you or someone you love has a rare disease, it’s not rare for you. That’s why we’re proud that two of our labs are at the forefront of genetic rare disease research. Our Carvalho and Dudley Labs work closely with patient advocates, clinicians, and researchers across the globe to speed up diagnosis and help families access lifesaving treatment,” says Dr. Jack Faris, PNRI CEO.
“We recognize that if you or someone you love has a rare disease, it’s not rare for you. That’s why we’re proud that two of our labs are at the forefront of genetic rare disease research. Our Carvalho and Dudley Labs work closely with patient advocates, clinicians, and researchers across the globe to speed up diagnosis and help families access lifesaving treatment.”
Jack Faris, PhD
PNRI CEO
Pioneering Genetic Research Initiatives
PNRI’s Carvalho Lab is dedicated to uncovering the molecular roots of rare genetic diseases and their impacts on human health. Using advanced DNA sequencing technology and analytical tools, they focus on unraveling the mysteries of structural variants and other genetic variations that cause disease, including those behind conditions like Robinow syndrome, MECP2 duplication syndrome and Rett syndrome. Additionally, they explore genetic abnormalities that lead to pregnancy losses, birth defects, and neonatal death.
As Dr. Cláudia Carvalho states, “Improving the diagnosis of rare diseases is not just about identifying genetic anomalies; it’s about ending the protracted diagnostic odyssey for families and, ultimately, saving lives through timely intervention.”
“Improving the diagnosis of rare diseases is not just about identifying genetic anomalies; it’s about ending the protracted diagnostic odyssey for families and, ultimately, saving lives through timely intervention.”
Cláudia Carvalho, PhD
PNRI Assistant Investigator
Revolutionary Tools for Rare Disease Diagnosis
PNRI’s Dudley Lab pioneered a new genetic screening tool to identify the genetic variants that cause disease. Using yeast genetics and cutting-edge synthetic biology methods, they can rapidly map which gene variants are likely to cause disease and how severe the disease is likely to be. This tool helps clinicians interpret genetic testing results quickly and accurately and is dramatically improving the diagnosis of urea cycle disorders, a set of inherited metabolic disorders that can be deadly if not diagnosed in time.
“Collaboration is key to developing new diagnostic tools. Only by joining forces with other scientists, clinicians, and rare disease families can we unlock the full potential of genetic research. Together, we are accelerating rare disease diagnosis and treatment.”
Aimée Dudley, PhD
PNRI Senior Investigator and Interim Chief Scientific Officer
Beyond its immediate benefit to an important set of metabolic disorders, this diagnostic approach can be applied to hundreds of other rare diseases, thereby revolutionizing rare disease diagnosis and treatment.
“Collaboration is key to developing new diagnostic tools. Only by joining forces with other scientists, clinicians, and rare disease families can we unlock the full potential of genetic research. Together, we are accelerating rare disease diagnosis and treatment,” says Dr. Aimée Dudley.
Rare Disease Day Event at PNRI
PNRI is honored to host events that bring together collaborators at the frontier of genetic research for rare diseases. Please join us virtually for a special Science Matters seminar on Wednesday, February 28th, featuring two powerful speakers who will share their work on rare disease advocacy and research.
Our first speaker, Jill Hawkins, is a parent of children with a rare disease who founded the FAM177A1 Research Fund. Following Jill will be Dr. Jennifer Posey from Baylor College of Medicine, a top genetic researcher focused on rare diseases, who will discuss recent discoveries in this fast-evolving field.
To be part of this inspirational event honoring Rare Disease Day 2024, register here. Click here to learn more about supporting rare disease research at PNRI.