Developing Personalized Treatment in Neurodegenerative Disorders: Role of Genomics and Novel Technologies in Identifying Actionable Targets and Developing Interventions in Rare-Diseases

Neurodegenerative diseases represent one of the leading causes of disability and death in the developed world and include both common (such as Alzheimer's and Parkinson's disease) and rare diseases. Additionally, many rare diseases of other organ systems have important and often debilitating neurological manifestations. Traditionally, the development of novel therapies involved a decade-long and prohibitively costly process, especially challenging because it attempted to simultaneously target genetically heterogeneous diseases. The rapid and successful preparation of vaccines against Sars-CoV-2 during the pandemic has removed many of the administrative barriers to rapid therapy development using novel therapeutic technologies, such as mRNA, virus-based vectors, or anti-sense oligonucleotides. Simultaneously, advances in genomics (whole genome sequencing, optical genome mapping) have enabled us to personalized assess disease mechanisms. This re-examination of what is actionable in neurological and rare diseases should be our collective first step towards developing personalized treatment.

We would like to assess the types of disease mechanisms that are currently actionable by different novel therapeutic technologies in the context of neurological and rare diseases. This involves evaluating how existing new genomic technologies can aid us in determining the cause of the disease (eg. loss-of-function through aberrant splicing, validation of causality, etc.) on one hand as well as finding the most appropriate novel treatment for each type of disease mechanism (mRNA replacement of defective gene, anti-sense oligonucleotides, deep-brain stimulation, etc.) on the other.

The Topic Editors will welcome any types of manuscripts supported by the Journal – comprised of research article, brief research article, review, and mini-review – about, but not limited to the following themes:
• Utilization of novel genomic technologies for personalized treatment
• Novel genomic approaches to identify causes of neurological and rare disease
• Protocols or strategies for identifying patients who are candidates for treatment
• Novel administration and or application techniques

Vatovec Sabina, Ph.D., MSc is a Senior Expert Science and Technology at Novartis (Global Drug Development), Lek, Sandoz. All other Topic Editors declare no competing interests with regards to the Research Topic subject.