I’m a neuroscience postdoctoral researcher in the lab of Loren Frank at UCSF. I’m fascinated by Scn2a because I want to understand the mechanism of Scn2a loss of function disorder and develop new treatments. During my MD/PHD training, I studied genetic causes of autism spectrum disorders and other developmental disorders with Chris Walsh at Boston Children’s Hospital. Now, in my postdoc research, I am focusing on learning and memory because learning and memory are often severely impaired in brain development disorders. I am particularly interested in Scn2a loss of function disorder because of my background studying autism and because Scn2a loss is one of the most common genetic causes of autism. Recently, the Simon’s Foundation developed a rat model of Scn2a loss, and my colleagues and I are studying Scn2a loss by measuring differences in learning of memory tasks in Scn2a loss of function rats compared to rats that are genetically normal. We are studying both male and female rats. To better understand the effects of Scn2a loss of function, we will surgically implant electrodes in these rats and measure electrical activity in the brain while the rats learn memory tasks. I am very excited to focus my research on Scn2a because there are no effective treatments for Scn2a loss of function disorder and this is an important area of unmet medical need. My hope is that patients who suffer from this disorder can be offered effective treatments that will allow them to have a better quality of life.
Frequently Asked Questions
Drugs typically have to clear multiple clinical trial hurdles in order to support approval. The typical trial phases are 1, 2, and 3 with lower number being earlier trials and larger numbers being more advanced trials.
Phase 1 trials are typically in healthy volunteers and are evaluating initial safety, and dosing in humans. These trials help ensure that the drug is safe enough to be evaluated in patients and also are used to identify an appropriate dosing range for subsequent trials.
Phase 2 trials are typically used to provide proof of concept (that the drug has an efficacy signal, is providing a benefit to patients) and also tests safety in the patient population. These trials often are used to help design and power registrational phase 3 trials.
Phase 3 trials are often the trials used to support the approval of the agent and may be the final clinical hurdle a drug needs to pass in order to be approved by the FDA.
This is a designation granted by the FDA when a drug is being developed to treat a pediatric condition that is serious and life-threatening and occurs in under 200k people in the US.
This is a program used by the US government to incentivize drug development for pediatric rare diseases. If a drug is approved that has been granted the rare pediatric disease designation, then the developing company receives a voucher that grants priority review of a future drug (which can accelerate the developmental time of a drug by ~4 months; for example: if drug#1 is approved and had been granted the rare pediatric disease designation then said company would receive a priority review voucher that they could use on drug#2 ).
This is a designation granted by the FDA when a drug is being developed to treat a rare disease (occurs in under 200k people in the US).
This is a program used by the US government to incentivize drug development for rare diseases. Drugs awarded this designation received a number of incentives by the FDA including: 1. Market exclusivity for 7 years post approval, 2. A waiver of application of user-fees, and 3. A 50% tax credit for clinical testing expenses