Rare Perspectives Roundtable: The End of VUS? Impact on Diagnosis and Treatment of Rare Diseases

Dr. Heather McLaughlin is a genomic medicine visionary with unparalleled experience in molecular diagnostics, medical and scientific affairs, and the commercialization of therapies for rare genetic disorders. Heather is a board-certified clinical molecular geneticist by the American Board of Medical Genetics and Genomics (ABMGG) and currently serves as the Senior Director of Molecular Diagnostics at Pharming Healthcare. Dr. McLaughlin received a B.S. in Diagnostic Molecular Science from Michigan State University, a M.S. and Ph.D. in Human Genetics from The University of Michigan, and completed a Clinical Molecular Genetics fellowship at Harvard Medical School. Heather’s professional interests include expanding access to genetic testing for individuals with rare genetic conditions, multi-modal resolution of variants of uncertain significance (VUSs), and elucidating the genetic, clinical, and mechanistic landscapes of rare disease to inform therapeutic commercialization. In her free time, Dr. McLaughlin enjoys spending time with her daughters, gardening and enjoying the outdoors, and traveling to destinations near and far with her family.

Nicole is the Vice President of Molecular Diagnostics at Ultragenyx. She focuses on biochemical and genetic testing in support of reducing the diagnostic odyssey for rare disease patients. She has partnered to develop and launch ten gene locus specific databases and published several variant reviews for rare genetic disorders.  Prior to the last 5 years at Ultragenyx, Nicole developed and led a similar function at BioMarin for 9 years, focusing on rare disease patient diagnosis. Since 2010, Nicole has worked closely with the newborn screening research community in support of improving newborn screening for rare disease.  Prior to working in the rare disease field, she led a molecular pharmacology research team at Exelixis and led a biomarker program there for about a decade supporting research through clinical development. Nicole has a bachelor’s degree in genetics from U.C. Davis and a PhD in oncology from U.W. Madison. Her postdoc was in biochemistry at UCSF with Erin O’Shea where she studied nuclear import and export as a means of transcriptional regulation. She sits on the board of the Professional Science Master’s program at the University of San Francisco.

‍

Mark has extensive experience in genome sequencing and clinical data analysis underlying the vision and technology driving the Genomenon suite of software tools.