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The overall goal of this project is to assess the potential and limitations of the application of genomic sequencing to testing hypotheses of human identity and relationship. The model system for this project will be direct sequencing of the highly polymorphic control region of the maternally inherited, haploid mitochondrial DNA (mtDNA) after amplification of target sequences by the polymerase chain reaction.

This project will develop a nine-week module to be used in the biology curriculum for high school students, as part of the NIH/ADAMHA Science Education Partnership awards. The module, 'Molecular Genetics and Human Affairs' will teach the structure of DNA and include activities focused on the organization, replication, and utilization of the information of DNA, using humans as a model system. Students will learn how to clone a gene and how to analyze a gene at the molecular level.

Using historical methods, this project explores the relevance of eugenics to genomics for the specific case of cancer theory and policy. The project will first examine the history of eugenics to see how genetic information was used in the 1920's-1940's to stigmatize or discriminate against specific individuals or members of groups. A second part examines the history of recent cancer theory to determine the extent to which evidence has been found that cancer is genetic, in the various senses of that term.

This project proposes to create a new research training program in genetics for students, researchers, and professionals from the developing country, People's Republic of China. This collaborative program will be developed between The Johns Hopkins University and two major institutions in Beijing, Peking Union Medical College and Peking University. This program will train researchers in the principles of genetic research on complex disorders such as birth defects and chronic diseases.

The National Black Leadership Conference on Genetics will bring together thought, civic, and elected leaders from the black community to learn about human genetics, new developments in genetic technology, future research directions, the application of genetics to health and medicine, and the use of genetic information and technology outside of the medical context. Participants will consider issues for the black community arising from advances in genetics, explore areas of optimism and concern, and identify high priority issues for further collaborative exploration.

Rapid advancements in genetic technology, the popularity and coverage of genetics by the press, and the increased understanding of the role genetics plays in our health necessitates a basic understanding of the science for everyone. In spite of this increased exposure to genetics, a study by Bowling (2008) indicated that the public's genetics literacy remains relatively low. Studies looking specifically at the genetics knowledge of students in grades K-12 also show low levels of understanding.

Targeted gene sequencing using large panels has become an increasingly important strategy for evaluating disease risk for many inherited diseases. Expanded gene panels are more sensitive than single gene testing and often more cost effective than sequential testing, leading to additional diagnostic and prevention opportunities. However, these panels also identify rare variants of uncertain clinical significance (VUS) in many patients.

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