While some neurological patients fit a typical disease profile, others are harder to define. Dr. Roberta La Piana is building a database of patients with genetic leukoencephalopathies, a group of rare diseases that share similarities with more common conditions like multiple sclerosis (MS).
Genetic leukoencephalopathies are diseases in which there are abnormalities or degeneration in the white matter鈥攄eep brain tissue made up of bundles of nerve fibres that carry messages to different parts of the nervous system. The cause of genetic leukoencephalopathies are often mutations passed from generation to generation.
Dr. La Piana began studying these diseases as a pediatric neurologist in Italy and brought her expertise to Montreal when she started her PhD in Dr. Bernard Brais鈥檚 lab at 捆绑SM社区 in 2012. During her studies, she found that adult patients with genetic leukoencephalopathies share some similarities with atypical MS patients.
Now as a scientist at The Neuro, Dr. La Piana studies whether MS patients who do not fit all the traits of the disease may actually have genetic disorders similar to genetic leukoencephalopathies. She works with Dr. Jack Antel, an MS specialist at The Neuro, to identify patients who may fit this mould, then examines their magnetic resonance imaging data to evaluate their white matter abnormalities.
鈥淚t鈥檚 fascinating to be able to make diagnoses of a genetic white matter disorder by recognizing patterns created by the white matter abnormalities,鈥� she says. 鈥淚n these disorders, every single white matter disease presents in a different way. When you recognize a pattern, you can pinpoint what genetic disorder the patient has.鈥�
Patients who show abnormalities suggestive of a hereditary disease are offered genetic evaluation thanks to a partnership with Dr. Brais, co-director of The Neuro鈥檚 Rare Neurological Diseases Group and collaborator in this study. The purpose of this research is to help patients and learn more about the diseases.
These patients often go undiagnosed or misdiagnosed because they do not perfectly fit any disease category. Through genetic counseling, doctors can diagnose not only the patient but also the patient鈥檚 family members who may carry the same disorder. Some genetic conditions can be treated with stem cell therapy, and pre-natal testing can then be proposed to future parents.
Since 2013, Dr. La Piana says she and her colleagues have identified more than 70 patients, and now she is expanding the search to centres across Quebec, Canada and other countries. The more patients they find, the more they can learn about these diseases, including the identification of more genes that contribute to them. The data and samples they collect will become part of the C-BIG Repository, an Open Science platform where scientists around the world studying these diseases can access them.
Dr. La Piana expects that her research will lead to the identification of new genetic disorders. She hopes that adult patients with an unknown white matter disease will finally receive a diagnosis. Since genetic inheritance is involved, the impact of this research will extend to entire families as well.
For more information you can contact Dr. La Piana (roberta.lapiana [at] mcgill.ca) or, for clinical questions, Catherine Boyer (brais.clinical [at] mcgill.ca).
