About Us – CSNK2B

Our Mission

It is the mission of the CSNK2B Foundation to bring awareness and education to CSNK2B Neurodevelopmental Syndrome and to enrich the lives of those affected by accelerating research, treatments and by chasing a cure for CSNK2B.

Board of Directors

Denise Scott

Denise is a founding member and President of the CSNK2B Foundation. She is a mother to Reese, who was diagnosed with CSNK2B Neurodevelopmental Syndrome in 2018. After years of trying to determine the cause of her daughter’s seizures and delays, her family finally had a name for the condition. At the time, she and her husband were told their daughter was the 3rd case in the WORLD. The problem was there was only one case study on two patients and no other information or research reported. The hope for answers did not come with the diagnosis.

After finding several other parents through a Facebook support group, there was hope they could work together to get some answers for all CSNK2B families. There is power in numbers, and although the numbers are few, the love of a child is mighty. She was new to the world of rare disease but there were many already paving the way for other families and parents to have hope they could one day find a treatment and a cure for their child.

Denise resides in Lawrence, Kansas with her husband Brandon, daughter Reese, and two dogs Ruby and Bailey. She enjoys attending Kansas Baseball games, karaoke and dance parties with her daughter and spending time with family and friends.

Didi Sun

Didi lives in Los Angeles with her wonderful daughters, Luna, Esme and her husband.

She loves to travel and explore different cultures. During her younger years she completed an around-the-world trip by herself, and has lived in several major cities such as New York, Beijing, and Sydney.

However, her world changed forever when her daughter had her first seizure at 4 months old which started the diagnostic odyssey. Luna was eventually diagnosed with CSNK2B syndrome when she was just shy of 2 years old and their world turned upside down.

These days she doesn’t have much time to travel. Her job, the foundation, and Luna’s daily therapies and doctor appointments keep her busy. She also spends a lot of time fighting with insurance companies, social services, and school districts to get the coverage and support for Luna. The therapies are great for Luna however, they are not cures and they don’t compensate for the protein that is missing in Luna’s body. She knows her daughter deserves more. This is when we launched the CSNK2B foundation to raise awareness and fund research with the ultimate goal of finding a cure for all of the kids that are affected by CSNK2B.

Despite the daily challenges, Didi makes sure to prioritize spending time with Luna. They love going to the beach and riding roller coasters together, as Luna enjoys sensory experiences. Seeing her happy and experiencing new things is what makes life worth living.

Overall, Didi is passionate about making a positive impact in the world and creating a better future for her daughter and all disabled individuals.

Tristan T. Sands, MD, PhD

Tristan T. Sands, MD, PhD is Assistant Professor in the Columbia University Vagelos College of Physicians & Surgeons (Columbia VP&S) Departments of Neurology and Pediatrics. He is a pediatric neurologist who treats children and babies suffering from epilepsy and a physician scientist with expertise in genetic causes of epilepsy and neurodevelopmental disease.

Dr. Sands completed his MD-PhD at Columbia VP&S through a Medical Scientist Training Program with thesis work in lab of Dr. Arnold Kriegstein. During child neurology residency at UCSF, Dr. Sands trained in electroclinical phenotyping of the epilepsies under Dr. M. Roberta Cilio. After finishing his clinical training at Columbia VP&S in epilepsy and clinical neurophysiology with Dr. Jim Riviello, Dr. Sands joined Columbia VP&S as faculty in 2017, first training in neurogenetics at the Institute for Genomic Medicine, and then returning to the bench to study genetic epilepsy using mouse models under the mentorship of Dr. Wayne Frankel.

Dr. Sands has worked closely with families to treat hundreds of children with epilepsy. He is the author of chapters on pediatric epilepsy and genetic epilepsy in major textbooks in the field of neurology, including Merritt’s Neurology and Swaiman’s Pediatric Neurology. Dr. Sands has served as an expert on ClinGen’s epilepsy gene curation panel since 2017. In 2023, Dr. Sands was named Fellow of the American Epilepsy Society in recognition of professional accomplishment and dedication in the field of epilepsy.

Dr. Sands is a 2024 Louis V. Gerstner Scholar. His research contributions include demonstration of the exquisite efficacy of carbamazepine for neonatal epilepsy caused by inherited loss-of-function variants in KCNQ2 and KCNQ3, work that led to changes to the International League against Epilepsy guidelines and recommendations on the treatment of seizures in newborn babies. Dr. Sands reported the electroclinical characterization of a new gain-of-function phenotype caused by de novo variants in KCNQ3. Dr. Sands reported variants in NBEA as a cause epilepsy and neurodevelopment, and he characterized the largest cohort of patients with epilepsy and neurodevelopmental disability caused by pathogenic variants in CSNK2B.

The Sands “END (Epilepsy & Neurodevelopmental Disease) Laboratory,” established in 2022 in the Center for Translational Research in Neurodevelopmental Disease (CTRND), uses mouse and human cellular models to identify convergent disease mechanisms and novel therapeutic strategies for epilepsy and encephalopathy caused by rare genetic mutations. These research efforts are supported by federal grants from both NIH and private agencies.

Marina Dutra-Clarke, MS, CGC

Marina Dutra-Clarke is a genetic counselor board certified by the American Board of Genetic Counseling and licensed in California. Her clinical interests include hearing loss, hereditary kidney conditions, chromosome 22q11.2 deletion syndrome, neurodevelopmental disorders, hereditary cancer predisposition, and rare and ultra-rare disorders. Before joining Providence, she spent six years at UCLA providing genetic counseling services to both pediatric and adult populations with rare disease. She also served as a lecturer and clinical supervisor of the UCLA Master of Science in Genetic Counseling Program. She has a professional interest in genetic test interpretation and serves as a biocurator on the ClinGen Hearing Loss Variant Curation Expert Panel. Additionally, she is the co-chair of the National Society of Genetic Counselors Ophthalmology and Hearing Loss Special Interest Group. Marina is also passionate about improving patient access to clinical genetics services, exploring alternative genetic counseling service delivery models, and engaging in community outreach and education to non-genetics healthcare professionals. Marina earned her master’s degree in genetic counseling from the University of California, Irvine and her bachelor’s degree in biological sciences with a minor in psychology from Rutgers, the State University of New Jersey.