PNRI Discoveries Showcased at Global Rare Disease Conferences

PNRI scientists are at the forefront of groundbreaking rare disease research. This spring, they are taking their breakthroughs global, sharing their labs’ latest findings with experts and advocates worldwide.

Wellcome Connecting Science – Genomics of Rare Disease Conference (March 25-27)

From March 25 to 27, Drs. Cláudia Carvalho and Aimée Dudley are representing PNRI at the prestigious Wellcome Connecting Science – Genomics of Rare Disease Conference in the UK. The conference brings together the world’s preeminent scientists, clinicians, and bioinformaticians dedicated to rare disease research.

Claudia Carvalho, PNRI, rare disease
Cláudia Carvalho, PhD, PNRI Assistant Investigator

Dr. Cláudia Carvalho was selected to present her lab’s recent discoveries about MECP2 duplication syndrome, a condition which manifests in a range of neurological and developmental issues. The Carvalho Lab studied individuals with this syndrome to understand how different genetic alterations affect their symptoms. They unraveled how the size and type of genetic changes directly influence the severity of symptoms. Their findings represent a critical step forward in our understanding of genetic disease, shedding light on the complex role of genomic rearrangements in neurodevelopmental disorders and beyond.

Aimee Dudley, rare disease
Aimée Dudley, PhD, PNRI Interim Chief Scientific Officer and Senior Investigator

During the conference’s poster sessions, Dr. Aimée Dudley will share her lab’s recent findings about Argininosuccinate lyase deficiency (ASL deficiency). This rare genetic disorder, affecting approximately 1 in 70,000 newborns, leads to dangerous ammonia buildup in the blood, resulting in severe symptoms such as seizures, coma, and even death. Using yeast cells, the Dudley Lab investigated how different genetic variations impact ASL function. They found that certain combinations of variations unexpectedly restored enzyme function, a phenomenon known as intragenic complementation. Understanding these interactions can help clinicians diagnose ASL deficiency and predict the severity of the disease.

2024 National Urea Cycle Disorder Foundation’s Family Conference (April 5-7)

At the 2024 National Urea Cycle Disorder Foundation’s Family Conference, Dr. Dudley will share details about another of her lab’s recent breakthroughs: a new genetic screening tool that identifies the genetic variants that cause OTC deficiency– the most common urea cycle disorder– that can be deadly if not diagnosed in time. Using yeast genetics and cutting-edge synthetic biology methods, the Dudley Lab 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 dramatically improves the diagnosis of urea cycle disorders

American Cytogenomics Conference (June 2-5)

In June, Dr. Carvalho will present her lab’s other recent advances in uncovering the molecular causes of rare diseases at the American Cytogenomics Conference in Norfolk, Virginia. Using innovative DNA sequencing methods in individuals with neurodevelopmental disorders, Dr. Carvalho and her team discovered previously undetected chromosomal inversions, one of which influences a gene tied to Kleefstra syndrome. Their research highlights the vital role of reference genomes as guides through the complex genetic landscape of rare diseases. Without them, certain genetic alterations may go unnoticed, posing challenges in understanding and addressing these conditions effectively.

Advancing Rare Disease Understanding Through Global Collaboration

Participating in these conferences not only underscores the significance of the scientific breakthroughs from PNRI’s Dudley and Carvalho Labs but also serves as a vital platform to share these findings with fellow scientists, clinicians, and patient families. PNRI’s pioneering research is instrumental in paving the way for improved diagnosis, treatment, and ultimately, better outcomes for individuals affected by rare diseases.