Company Filing History:
Years Active: 2005
Title: Jaakko Perheentupa: Innovator in Genetic Research
Introduction
Jaakko Perheentupa is a prominent inventor based in Helsinki, Finland. He has made significant contributions to the field of genetic research, particularly in understanding autoimmune diseases. His work has implications for genetic diagnosis and the molecular pathogenesis of specific conditions.
Latest Patents
Jaakko Perheentupa holds a patent for a nucleic acid molecule encoding a (poly)peptide co-segregating in mutated form with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). This patent is crucial as APECED is the only known systemic autoimmune disease with a monogenic background. The research led to the isolation of a novel polynucleotide located on chromosome 21q22.3, identifying five different mutations in APECED patients from various populations. The polypeptide encoded by this polynucleotide is named APGD1, which consists of 545 amino acid residues and features two Cys(4)-His-Cys(3) double-paired finger motifs similar to PHD finger domains. This discovery facilitates direct genetic diagnosis of APECED and provides essential tools for understanding the disease's molecular pathogenesis.
Career Highlights
Jaakko Perheentupa is affiliated with the National Public Health Institute, where he has dedicated his career to advancing research in autoimmune diseases. His innovative work has garnered attention in the scientific community, contributing to a deeper understanding of genetic factors in health and disease.
Collaborations
Jaakko has collaborated with notable colleagues, including Leena Peltonen and Johanna Aaltonen. Their joint efforts have furthered research in the field and enhanced the impact of their findings.
Conclusion
Jaakko Perheentupa's contributions to genetic research, particularly in relation to APECED, highlight his role as an influential inventor in the scientific community. His work not only aids in genetic diagnosis but also enhances our understanding of autoimmune diseases.