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A groundbreaking discovery by an international research team has revealed a new genetic disorder characterized by the presence of extra fingers and toes, as well as various neurological issues. This disorder, caused by mutations in the MAX gene, offers a potential avenue for treatment using a molecule currently under trial for another condition.
Discovery of a New Genetic Disorder
The research, co-led by the University of Leeds, has identified a rare disorder that leads to babies being born with extra digits, a condition known as polydactyly, and other birth defects. This newly discovered disorder, yet to be named, is attributed to a genetic mutation in the MAX gene. In addition to polydactyly, the disorder manifests in symptoms related to ongoing brain growth, such as autism.
Potential Treatments on the Horizon
This research marks the first time the genetic link to this disorder has been identified. The team has also discovered a molecule that could potentially treat some of the neurological symptoms and prevent the condition from worsening. However, further research is required to validate the effectiveness of this molecule before it can be used as a treatment.
Published in the American Journal of Human Genetics, the study focuses on three individuals exhibiting a rare combination of physical traits, including polydactyly and macrocephaly (larger than average head circumference). These individuals also shared characteristics like delayed eye development, leading to early vision problems.
By comparing the DNA of these individuals, researchers found a shared genetic mutation responsible for their birth defects.
Research Collaboration and Future Directions
The research was co-led by Dr. James Poulter from the University of Leeds, Dr. Pierre Lavigne from Université de Sherbrooke in Québec, and Professor Helen Firth from Cambridge University.
Dr. Poulter, UKRI Future Leaders Fellow and University Academic Fellow in Molecular Neuroscience, emphasized the importance of this research: “Currently, there are no treatments for these patients. This research not only helps us understand rare conditions better but also identifies potential ways to treat them. We found a drug already in clinical trials for another disorder, which could be fast-tracked for these patients if our research proves it reverses some effects of the mutation. Moreover, other patients with similar features can now be tested for the same variant identified in our study.”
The interdisciplinary research into rare diseases is crucial for providing understanding and hope to families facing long periods of uncertainty about their child’s condition and prognosis. Dr. Poulter added: “These conditions have a significant impact on patients and their families, often leading to a complex diagnostic journey that can take over ten years from the first doctor’s visit to diagnosis. Identifying the cause of their condition and accessing a therapy based on their genetic diagnosis could be life-changing.”
Dr. Lavigne highlighted the importance of understanding the mutation’s impact on MAX function as a first step towards developing a treatment for affected children. The researchers plan to find additional patients with MAX mutations to better understand the disorder and investigate whether the potential treatment improves symptoms.
The study was conducted in collaboration with Leeds Teaching Hospitals Trust, NHS Wales’ All Wales Medical Genomics Service, and Radboud University Medical Center in the Netherlands, using data from the Deciphering Developmental Disorders study led by the Wellcome Sanger Institute.
Professor Firth remarked on the ongoing discoveries from the DDD study, stating: “It’s exciting that in 2024, we’re still making new discoveries. This new finding offers a diagnosis for our DDD patients and enables other children worldwide to be diagnosed with this novel disorder.”
