Location History:
- Malvern East, AU (2010 - 2011)
- Hawthorn East, AU (2012)
- Victoria, AU (2018)
- Melbourne, AU (2017 - 2022)
Company Filing History:
5 out of 323 
5 out of 11 
4 out of 64 
Years Active: 2010-2025
Title: Ingrid Eileen Scheffer: Pioneering Innovations in Genetic Disorders
Introduction
Ingrid Eileen Scheffer is a prominent inventor based in Melbourne, Australia. She has made significant contributions to the field of genetics, particularly in understanding seizure and movement disorders. With a total of nine patents to her name, her work has had a profound impact on medical diagnostics and therapeutic methods.
Latest Patents
One of her latest patents focuses on the proline-rich transmembrane protein 2 (PRRT2) gene. This invention identifies mutations and variations in the PRRT2 gene that are associated with seizure and movement disorders. The patent provides methods for diagnosing or prognosing these disorders by detecting alterations in the PRRT2 gene. Additionally, it includes an isolated nucleic acid molecule that produces a seizure and/or movement disorder phenotype. Another significant patent addresses diagnostic and therapeutic methods for epilepsy and mental retardation limited to females (EFMR). This invention offers methods and kits for diagnosing illnesses related to protocadherin 19 (PCDH19) protein deficiency and provides therapeutic options for affected individuals.
Career Highlights
Ingrid has worked with esteemed institutions such as the University of Melbourne and Central Adelaide Local Health Network Inc. Her research has been instrumental in advancing the understanding of genetic disorders and their implications for affected individuals and families.
Collaborations
Ingrid has collaborated with notable colleagues, including Samuel Frank Berkovic and Leanne Michelle Dibbens. These partnerships have further enriched her research and contributed to the development of innovative solutions in the field of genetics.
Conclusion
Ingrid Eileen Scheffer's work exemplifies the intersection of innovation and medical science. Her contributions to understanding genetic disorders have paved the way for improved diagnostic and therapeutic methods, ultimately benefiting countless individuals and families.