Founders and team

Our team is made up of our parents. We are the most devoted to achieve our mission. All team members have the responsibility  to oversee the organization’s development, participate collectively in decision making, and contribute to achieving our mission.

Daniele Ciampa

Daniele and his family live in Pisa, Italy. Daniele graduated from University of Pisa, with a degree in pharmaceutical science and administration, under Pharmacy. He currently works as a pharmacist in Pisa Italy. Since his daughter was born and diagnosed, it became his life purpose to help all kids with this rare disease and advocate for research. He is beyond dedicated to bring awareness and push research forward with the goal to find effective treatments and cure. Daniele is passionate about sports and loves soccer! In his free time he loves to spend time with his family, play with his daughter and see her smile.

Scarlett Aber

Scarlett and her family live in Hillsboro, Ohio. She graduated from Hondros College of Nursing and is currently working as her daughter’s home health nurse. Since her daughter’s diagnosis, she has been advocating and raising awareness for rare diseases. Driven by the most profound love for her daughter, she is committed to helping find an effective treatment/cure for her daughter and all those affected by SMC1A. In her free time, Scarlett enjoys spending time with her family.

Piret Saagpakk

Piret has been a San Francisco, California native the past 25 years. She has a BA in Industrial Arts from SFSU. Her background is in graphic/web design and internet marketing but currently, she’s mostly her daughter’s full time caregiver. Advocating for kids with special needs gives Piret the biggest purpose and self-fulfillment in life. In her free time, she catches a Bikram class or enjoys a long run outdoors, her favorite trails are along the ocean. Piret has completed 1 half and 1 full marathon.

Board Members

Board members provide strategic guidance, support fundraising efforts, and advocate for the mission of the foundation to advance research, awareness, and care for individuals with SMC1A-related disorders. Responsibilities include attending board meetings, reviewing key initiatives, assisting in outreach, and contributing expertise or connections to further our impact.

Katrina Kershner

Katrina and her family live outside of Seattle, WA. Since her daughter’s diagnosis in 2016, Katrina has advocated for more research and worked with her fellow parents to build a community for families affected by SMC1A mutations. She has a background in information technology and support. In her free time, she reads fiction books and relaxes with her family.

Jackie Neumann

Jackie and her family live in Norwich, NY. Her daughter was diagnosed in 2020, after 13 years of ongoing testing that produced no answers. Having almost 20 years of experience in Warehousing and Logistics, Jackie doesn’t have a medical background so she has had to learn as much as she could to fight for the care her daughter needs. She is now in the process of researching ICD-10 medical coding with the goal of applying for a specific ICD-10 code for SMC1A Epilepsy. She has recently taken up making beaded bracelets in her spare time and loves to watch movies and read fantasy novels.

Danielle Szynkarski

Danielle and her family live near Paris, France. She works in marketing and communications in the technology sector, with over a decade of experience in digital marketing, content creation, and social media. Since her daughter’s diagnosis, Danielle has been motivated to help raise awareness of this ultra-rare disease and promote greater understanding and inclusion. She manages the Foundation’s communications and awareness initiatives across its social media channels. In her free time, she enjoys spending time with her family, exploring new places, and long walks outdoors.

Mary Lawrence

A senior technology leader and SMC1A parent, Mary serves as the Data Manager for the SMC1A Foundation. She leverages her background in enterprise systems architecture to transform complex research data into accessible, ‘decision-grade’ assets. Mary is a passionate advocate for the belief that empowered parents are a researcher’s greatest asset; her work focuses on providing families with the clarity and information necessary to move from a place of overwhelm to a position of informed authority. By streamlining the flow of data between our community and global pharmaceutical partners, she ensures that parents remain the driving force behind scientific discovery and the search for a cure.

Medical Advisors

Our Medical Advisors role is to help us ensure valuable and appropriate data collection from our patient population, identify gaps in science that need filling in order to progress towards our goals, and advise us on funding research proposals to ensure these are aligned with our vision and target our communities most critical needs, so that we can progress towards our Mission.

Joseph Shieh, MD, PhD. Medical Geneticist at UCSF

Dr. Shieh is board certified in Medical Genetics. He specializes in evaluating individuals with complex medical problems and management of rare genetic conditions. Dr. Shieh’s research laboratory aims to understand how X-chromosome genes are regulated and how to alter gene expression. He is the geneticist for children with rare conditions. He is an expert in genome biology and informatics. He serves as geneticist for a Center of Excellence at UCSF. He co-directs the UCSF Personalized Genomics Clinic. Recent work has focused on early detection of genetic conditions via newborn and family sequencing.

Matthew Deardorff, MD, PhD | Keck School of Medicine of USC

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease.  His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.

Partners and Members