Science Snapshots

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!

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer Some OCNDS patients are smaller at birth and about ~1/3 of OCNDS kids have short stature or decreased weight gain. Understandably, families often ask about the use of growth hormones in the treatment of OCNDS. Here is more information about what is currently known about growth hormone and OCNDS:

Author: Tierney Baum, CSNK2A1 Foundation Consultant Establishing an ICD-10 code for rare disorders like OCNDS is important for increasing visibility by standardizing the language used to diagnose disorders Having an accurate code for OCNDS means that when new patients are evaluated by a medical provider, they will begin to have the unique code associated with their records; this makes tracking patients and their outcomes much easier for the OCNDS community. It will also be easier for newly diagnosed patients to connect with OCNDS community resources. These codes can also aid researchers in identifying patients eligible for research studies. ICD-10 codes are pivotal for tracking OCNDS patient health outcomes, especially if a new therapy becomes available. Insurance companies may vary in their willingness to cover treatments based on how many patients are linked to a specific ICD-10 code in their records. Without an appropriate code that accurately describes a patient’s diagnosis, healthcare providers must choose from alternative and likely less accurate codes. This could affect coverage and reimbursement for OCNDS patients, making access to care more challenging. Common codes used for OCNDS patients include general codes for intellectual disability/developmental delay, seizures, autism, and/or ADHD. When used correctly, ICD-10 codes can be a powerful tool for the OCNDS community. Fortunately, the patient advocate community can play a direct role in working toward establishing a specific code for OCNDS. At the time of writing this Science Snapshot (October 2024), the foundation has submitted a proposal and hopes it will be discussed at the March 2025 meeting.