CURF #1 – Assessing Disease-Causing Mutations in the Potassium Chloride Co-Transporter 2 (KCC2)

Hi, my name is Ishika Singh! I am a current junior pursuing a bachelor’s degree in Biological Sciences with a minor in Chemistry and a certificate in Conceptual Foundations of Medicine.

This semester, I will be focusing on assessing the various disease-causing mutations of the Potassium Chloride Cotransporter 2 (KCC2) protein. KCC2 is a neuron-specific membrane protein expressed throughout the central nervous system including the hippocampus, hypothalamus, brainstem, and motoneurons of the ventral spinal cord. My experiments will be conducted in Dr. Jeffrey Brodsky’s lab with my research mentor, Morgan Kok. I will use diverse molecular, cellular, and biochemical techniques to determine the functional impact of the 12 different disease-associated mutations in human embryonic kidney (HEK) cells. The diseases that I will be focusing on are schizophrenia, autism spectrum disorder, and epilepsy. Schizophrenia is a chronic brain disorder that affects approximately one percent of the population in the United States and is characterized by thoughts or experiences that are inconsistent with reality. The disease is known for its devastating impact on quality of life. Autism spectrum disorder is a disability that makes it more difficult for an individual to interact with society due to poorly developed social skills, difficulty with expressive and receptive communication, and the presence of restrictive and repetitive behaviors. Epilepsy is the fourth most common neurological disorder in the United States and occurs when nerve cell activity in the brain is disturbed, causing seizures. Currently, there are no cures for any of these disorders, therefore it is important to study how mutations in KCC2 affect protein stability and localization so we can understand how to treat people with these specific mutations. This would help millions of people that suffer from these diseases and provide insight into the complex cellular processes that are causing them to occur.

My current professional goal is to attend medical school. I believe that the CURF fellowship will help me pursue my goal more successfully. This fellowship will allow me to further understand the intricacies in science and enhance my passion for discovery. Moreover, this experience will provide me with valuable communication skills. It will give me the opportunity to effectively demonstrate my findings and to express myself in a concise way to more than just the scientific community. I am also eager to get the chance to learn about my classmate’s research projects as well. Overall, I am thankful that the CURF fellowship has granted me the opportunity to be able to challenge myself, find answers to things that are unknown, and grow as a scientist. I am looking forward to the experience!

Something unique about myself is that I really enjoy dancing. I’ve been a dancer since the age of 3 and have participated in a variety of different dance forms such as ballet, tap, jazz, and bollywood.

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