Location History:
- Durham, NC (US) (2010 - 2012)
- Chapel Hill, NC (US) (2010 - 2016)
- Coral Gables, FL (US) (2010 - 2022)
Company Filing History:
11 out of 2,010 
2 out of 1,160 
Years Active: 2010-2022
Title: Inventor Spotlight: Margaret A Pericak-Vance
Introduction
Margaret A Pericak-Vance is a renowned inventor based in Chapel Hill, NC, whose contributions to the field of genetics and medicine are truly noteworthy. With a remarkable portfolio of 11 patents, she has significantly advanced our understanding of genetic disorders.
Latest Patents
Among her latest innovations, Margaret's work on detecting Charcot-Marie-Tooth disease type 2A stands out. This patent describes methods for screening individuals for risk or diagnosing Charcot-Marie-Tooth disease by identifying mutations in the mitofusin gene from biological samples. Additionally, she has developed techniques to detect genetic polymorphisms associated with Charcot-Marie-Tooth disease type 2A through the amplification of mitofusin gene sequences.
Another significant patent focuses on the involvement of the TRPC6 gene in glomerulonephritis, particularly in the context of focal segmental glomerulosclerosis (FSGS). This kidney disorder is complex and affects many, particularly those on dialysis. Her research identifies a missense mutation in the TRPC6 gene that enhances calcium signaling, suggesting a novel mechanism for glomerular disease pathogenesis.
Career Highlights
Margaret has made substantial contributions to the research community through her affiliations with prominent institutions such as Duke University and Vanderbilt University. Her work has garnered attention for providing insights into previously unexplained kidney disorders and genetic diseases.
Collaborations
Throughout her career, Margaret A Pericak-Vance has collaborated with notable colleagues, including Jeffery M Vance and Stephan Zuchner. These collaborations have enhanced her research output and furthered the understanding of the genetic underpinnings of various diseases.
Conclusion
Margaret A Pericak-Vance's inventive spirit and dedication to advancing medical knowledge through her patents continue to inspire future generations of scientists and inventors. Her contributions not only enrich the field of genetics but also offer new hope for diagnosing and treating genetic disorders.