SHANDONG UNIVERSITY (20240263236). PATHOGENIC GENES ASSOCIATED WITH PREMATURE OVARIAN INSUFFICIENCY AND THEIR APPLICATION simplified abstract

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PATHOGENIC GENES ASSOCIATED WITH PREMATURE OVARIAN INSUFFICIENCY AND THEIR APPLICATION

Organization Name

SHANDONG UNIVERSITY

Inventor(s)

Zijiang Chen of Jinan (CN)

Yingying Qin of Jinan (CN)

Ting Guo of Jinan (CN)

Shidou Zhao of Jinan (CN)

Yajuan Yang of Jinan (CN)

Xue Jiao of Jinan (CN)

Caiyi Chen of Jinan (CN)

PATHOGENIC GENES ASSOCIATED WITH PREMATURE OVARIAN INSUFFICIENCY AND THEIR APPLICATION - A simplified explanation of the abstract

This abstract first appeared for US patent application 20240263236 titled 'PATHOGENIC GENES ASSOCIATED WITH PREMATURE OVARIAN INSUFFICIENCY AND THEIR APPLICATION

The present invention focuses on disease detection and molecular biology technologies, specifically addressing pathogenic genes associated with premature ovarian insufficiency.

  • Identified new POI-associated genes through whole-exome sequencing analysis of a large international sample size.
  • Demonstrated the pathogenicity of these genes through functional experiments.
  • Screened mutations of existing known POI-associated genes.
  • Lays a foundation for prediction, diagnosis, treatment, genetic etiological analysis, and establishment of related genetic models for POI.
      1. Potential Applications:

This technology can be applied in the prediction, diagnosis, and treatment of premature ovarian insufficiency. It can also be used for genetic etiological analysis and the establishment of related genetic models.

      1. Problems Solved:

This technology addresses the need for better understanding and detection of pathogenic genes associated with premature ovarian insufficiency.

      1. Benefits:

The technology offers improved prediction, diagnosis, and treatment options for individuals with premature ovarian insufficiency. It also enhances genetic etiological analysis and the establishment of related genetic models.

      1. Commercial Applications:

This technology has potential commercial applications in the healthcare industry, particularly in the fields of reproductive health and genetic testing.

      1. Questions about premature ovarian insufficiency:
        1. 1. What are the main challenges in diagnosing premature ovarian insufficiency?

Diagnosing premature ovarian insufficiency can be challenging due to its varied symptoms and the need for genetic analysis to identify underlying causes.

        1. 2. How can this technology improve the treatment of premature ovarian insufficiency?

This technology can lead to more personalized and effective treatment options by targeting specific pathogenic genes associated with premature ovarian insufficiency.


Original Abstract Submitted

the present invention pertains to the realm of disease detection and molecular biology technologies, specifically addressing the pathogenic genes associated with premature ovarian insufficiency and their application. the present invention identified new poi-associated genes through whole-exome sequencing analysis of the poi cohort with the largest international sample size. their pathogenicity was demonstrated by functional experiments, and mutations of existing known poi-associated genes were further screened. this lays a foundation for the prediction, diagnosis, treatment, genetic etiological analysis and establishment of related genetic models for poi, thus manifesting commendable practical implementation merit.

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