Our precision medicine services are designed to help physicians and patients better understand rare CNS conditions.
Deciding how best to move forward after a rare disease diagnosis can be a daunting task. Obtaining a thorough understanding of an individual’s disease is critical, as it can enable physicians to tailor care to target the underlying cause. The journey toward a better understanding of the condition often begins with genetic sequencing to identify genetic variants that may contribute to the disease. Next, scientific research is often warranted to determine how those mutations impact cellular biology and to learn about therapies that can modify the effects of those mutations in cellular models. Q-State’s suite of precision medicine services are designed to provide individuals and their physicians with this knowledge.
Genetic Sequencing Services
Q-State provides genetic sequencing services through its subsidiary, QNA Dx. QNA Dx is a CLIA-certified clinical sequencing laboratory that offers both whole exome sequencing and panel screens focusing on pediatric neurological disease. Unlike conventional sequencing methods, QNA Dx uses two distinct technology platforms to sequence genetic material. This orthogonal approach provides greater sensitivity for detecting variants of interest and allows us to identify changes in genes that other sequencing approaches may miss. In addition to its differentiated sequencing platform, QNA Dx provides rigorous interpretation services to generate reports based on genetic findings that are not only highly accurate, but also indicate actionable next steps to continue an individual’s journey after diagnosis.
Drug Screening Research Services
Q-State offers new research opportunities for patients with rare genetic epilepsies through its recently-integrated Pairnomix business. Pairnomix research services include functional mutation characterization and drug screening to provide new scientific insights about a specific genetic mutation. This research involves creating a laboratory model of an individual’s genetic mutation and performing experiments to understand the impact of that genetic mutation on cellular function. A library of 1,500+ drugs approved for a variety of conditions is then screened using the model to identify drugs that can reverse the mutation’s functional consequence. Findings from this work are provided to the individual’s physician so they can consider these insights.
Antisense Oligonucleotide Research Services
Antisense oligonucleotides (ASOs) are short, single-stranded pieces of modified genetic material derived from RNA or DNA building blocks. ASOs are designed to recognize a specific genetic sequence and directly target the genetic basis of an individual’s core disease-causing mutation and compensate for the mutation’s negative effects. Scientists can design ASOs to either prevent the production of a toxic protein or rescue expression of a helpful protein to yield a beneficial effect. Q-State provides ASO research services for select genetic mutations implicated in CNS disorders and tests ASO candidates in disease-relevant cellular assays. Findings from this work are communicated directly to the individual’s physician. Q-State plans to engage the Food and Drug Administration to help navigate the regulatory processes required to provide a clinical ASO option for patients who may be good candidates for this approach.