Science Snapshots

Author: Monica Strain, CSNK2A1 Foundation Intern Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation Reviewed by: Elisabeth Mellinger, Parent Advisory Board Member, CSNK2A1 Foundation In this Science Snapshot, we look at drug repurposing – a promising strategy that may help bring treatments to rare disease communities faster, including those affected by OCNDS. We’ll explore what drug repurposing is, how it works, and why it holds unique potential for rare disease research and patient outcomes.

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer & Alison Kujawski, MPH, Director of Outreach, American Society of Gene + Cell Therapy (ASGCT) For many disorders the common treatments like medications or surgeries focus on managing symptoms or improving the effects of the condition on a person’s life. Gene therapy, however, is an approach that aims to tackle the root cause of genetic disorders by targeting a gene variant with the goal of slowing or stopping disease progression. The field of gene therapies has seen a growing number of FDA approved treatments in recent years, with hundreds of clinical trials underway. The research is moving quickly, offering hope for treating many disorders that were once considered untreatable.

Why You Should Sign Up for a Clinical Research ID (CRID)?

Author: Ingrid Vallee, PharmD, PhD Student, Scripps Research, CSNK2A1 Foundation Volunteer Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation Note: We suggest reading our Pharmacogenomics overview blog first.

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer Identifying new biomarkers for disease has become a bit of a buzzword in research and drug development in the last decade, but what exactly is a biomarker? A biomarker , which is a shortened form of ‘biological marker,’ is any biological molecule that is an objective measure of a biological process happening in a cell or organism at a given moment. Biomarkers help us improve our ability to monitor, diagnose, and predict disease risk. In this Science Snapshot we will explore different categories of biomarkers and how they can be beneficial in drug development and rare disease research.

Author: Tierney Baum, PhD, Strategic R&D Consultant Editor: Gabrielle Rushing, PhD, Chief Scientific Officer  The last decade has seen a surge in the use of cannabis-derived products for the treatment of everything from aches and pains to anxiety and even heart issues. One such use is taking cannabidiol (CBD) to help improve seizure severity in individuals with epilepsy and other seizure disorders. A growing cultural and political acceptance in the United States has made these products easier to acquire and has increased their widespread use. However, there still lacks sufficient clear, quantitative data to help potential users understand how cannabis products might be used for different disorders. In this Science Snapshot we will dive into what CBD is and current clinical evidence for its use in children with neurodevelopmental disorders.

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer A clinical trial is a lengthy process of testing out new treatments or devices to see how safe and effective they are in humans. They follow strict protocols and are conducted in phases, starting with small groups assessing safety and expanding to larger populations to determine how well the treatment works. All drugs and medical treatments that we use have been through the rigor of clinical trials so they could eventually become approved by the Food and Drug Administration (FDA) to be used on patients for specific purposes (e.g., to treat a specific symptom or disorder). Before treatments become approved, there is a long path starting in non-human or ‘preclinical’ models; if these studies are successful, then they can move on to the multiple stages of clinical trials. In this Science Snapshot we will be breaking down these steps so you can understand how a treatment goes from an idea to reality.

Author: Ingrid Vallee, PhD student, Scripps Research

Author: Tierney Baum, PhD, Strategic R&D Consultant Editor: Gabrielle Rushing, PhD, Chief Scientific Officer DNA is often referred to as the building block of life, but what does that really mean? Think of it as a set of instructions, like a blueprint or recipe, that shapes who we are. It is what makes humans different from other animals and what makes each person unique, from the color of our eyes to the way our bodies work. In this Science Snapshot we will explore how DNA is capable of making us, us!