Petra Björses

Title: Petra Björses: Innovator in Genetic Research

Introduction

Petra Björses is a prominent inventor based in Helsinki, Finland. She has made significant contributions to the field of genetic research, particularly in understanding autoimmune diseases. Her work has led to advancements in genetic diagnosis and the molecular understanding of specific conditions.

Latest Patents

Petra 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 described 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 identification facilitates direct genetic diagnosis of APECED and provides tools for dissecting the molecular pathogenesis of the disease.

Career Highlights

Petra is affiliated with the National Public Health Institute, where she continues her research and innovation in genetics. Her work has been instrumental in advancing the understanding of autoimmune diseases and their genetic underpinnings.

Collaborations

Petra has collaborated with notable colleagues, including Leena Peltonen and Johanna Aaltonen, who have contributed to her research endeavors.

Conclusion

Petra Björses is a key figure in genetic research, with her innovative work paving the way for better understanding and diagnosis of autoimmune diseases. Her contributions are vital to the ongoing advancements in this important field.