CHOC & UCI Rare Disease Symposium & Family Conference

Executive Director, Clinical Development, n-Lorem Foundation

Dr. Laurence Mignon is the Executive Director of Clinical Development at n-Lorem Foundation. Laurence has more than 20 years of experience as a seasoned academic researcher and clinical developer with a passion for rare diseases. Most recently, Laurence worked at Ionis Pharmaceuticals both in the Translational Medicine group and the Neurology Franchise Clinical Development group. In those roles, she implemented a novel genomic study to better understand genotype-phenotype associations and disease pathways, initiated the first clinical study in myotonic dystrophy type 1 and was a key member of the clinical team that brought SPINRAZA® (nusinersen), a disease-modifying therapy for patients with spinal muscular atrophy, to the market. Prior to Ionis, Laurence worked at Orexigen Therapeutics on the development of an obesity medication and at the Neuroscience Education Institute developing Continuing Medical Education material aimed at deconstructing the mechanism of action of psychiatric medications for psychiatrists, primary care physicians, and registered nurses. Laurence’s broad and diverse experience allows her to be strategically creative in her approach to deal with uncharted challenges. Laurence received her PhD in Pharmacology and Experimental Therapeutics from Loyola University Chicago and was a researcher for 6 years in the Department of Neurology at UCLA in the laboratory of Marie-Françoise Chesselet, studying properties of muscle-derived stem cells and the role of the serotonin pathway in Parkinson’s disease.

Director, California Institute of Regenerative Medicine Alpha Stem Cell Clinic, CHOC
Director, Foundation of Caring Lysosomal Storage Disorder Program, CHOC
CHOC Specialists, Metabolic Disorders

Dr. Raymond Wang, M.D., is a distinguished clinical geneticist and biochemical genetics specialist based at CHOC Children’s Hospital in Orange, CA. As the Director of the Foundation of Caring Lysosomal Storage Disorder Program, Dr. Wang oversees a multidisciplinary team dedicated to the comprehensive care and advancement of treatments for patients with rare lysosomal storage disorders. Dr. Wang is aware of the challenges faced by patients and families with rare diseases such as lysosomal storage disorders.

His expertise in genetic disorders and commitment to translational research have significantly contributed to the development of innovative therapies, including investigational treatments for conditions without current effective options. Dr. Wang’s dedication extends beyond treatment to include spearheading research initiatives aimed at discovering “next-generation” cures and improving the quality of life for his patients.

Assistant Professor, Physiology & Biophysics, School of Medicine UCI

Asuka Eguchi received her Ph.D. in Cellular and Molecular Biology at the University of Wisconsin-Madison. As a graduate student, she developed molecular tools that control cell identity and became interested in disease modeling using human induced pluripotent stem cells (iPSCs). She completed her postdoctoral fellowship in the laboratory of Dr. Helen Blau at Stanford, where she focused on heart failure in Duchenne muscular dystrophy. Dr. Eguchi is now developing gene therapies for Duchenne and is also studying the mechanism of heart complications in Kennedy's disease. She is a recipient of the American Heart Association Career Development Award, the NIH K01 Award, and the Muscular Dystrophy Association Development Grant.

Jessica Foglio is the Co-Founder and President of the Salla Treatment and Research Foundation (STAR). The STAR is a 501 (c) 3 tax-exempt charitable organization dedicated to supporting and advancing Salla disease treatments, research, education, awareness, and family networks. The Foundation was established in 2018 by Jessica and her husband Mike Foglio, to accelerate the prospects for effective medical treatments for those affected with free sialic acid storage disorders including Salla disease.

Jessica journey’s to be the lead of a patient advocacy foundation has been unique. She has both a Bachelor and Masters’s degree in Music from DePaul University and the Manhattan School of Music. Jessica then graduated from the prestigious Julliard School in New York as a classically trained opera singer and performed around the world in operas including Madame Butterfly and Don Giovanni.

The Foglios son Ben began to exhibit developmental delays, which led Jessica and Mike on a multi-year search for a diagnosis. They learned Ben had Salla disease and started working with a clinical team at the Albert Einstein College of Medicine in New York. It was there that they met Dr. Steven Walkley, Co-Director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center. Dr Walkley and his IDDRC team encouraged Jessica and Mike to start a foundation to support families like theirs. Jessica’s background in public speaking and performance and her natural ability to bring people together helped to build a coalition of families, researchers, and donors.

Since 2018, the STAR Foundation has raised nearly $1 million and has awarded scientific grants to National Institutes of Health and research labs around the world, including CHOC. Their patient community includes 80 families from 17 countries. STAR scientific partners are the independent Free Sialic Acid Storage Disorders (FSASD) research consortium. The Consortium includes over 20 research groups from across the USA and Europe (including CHOC). Each group brings different skills and experience, to study different aspects of FSASD in a collaborative effort to speed up learning more about disease mechanisms and treatment possibilities.

In October 2024, under Jessica’s leadership, STAR was selected as a Rare As One grant recipient from Chan Zuckerberg Initiative (CZI). CZI’s Rare As One Project supports patient-led organizations across the globe by strengthening communities, building capacity, and promoting collaboration to find treatments and cures for rare diseases. With this grant award, STAR joins Rare As One’s global network of over ninety patient advocacy organizations and will receive funding, support, and mentorship over a five-year period.

In addition to her work with the STAR Foundation, Jessica owns the All-Abilities Music Studio, where she teaches music lessons to children of all abilities with a primary focus on Autism Spectrum Disorder. Jessica and Mike live in Katonah, New York with their three children, Michael, Ben, and Lily.