Genetics, Genomics, and Precision Medicine - Past, Present and Future - April 28, 2020

Scientific Concepts, Discoveries, and Nature Phenomena Presented

• Genetics and Genomics
  • Genetics: The study of genes and heredity.
  • Mendelian Genetics: Gregor Mendel's work on inheritance patterns in pea plants, establishing foundational principles of Genetics.
  • Emory Fisztics: Contributions to genetic laws of nature through sheep breeding.
  • Evolution: Charles Darwin's theory of natural selection and descent from common ancestors.
• Definition of Genes
  • Gene: A unit of heredity made up of DNA that determines characteristics.
  • Genotype vs. Phenotype
    • Genotype: The genetic makeup of an organism.
    • Phenotype: The observable characteristics of an organism.
• Human Genome Project: A global initiative to sequence the entire human genome, providing essential data for understanding Genetics and disease.
• Gene Expression
  • Transcription and Translation: The processes by which genes are expressed to produce proteins.
  • Central Dogma of Molecular Biology: The flow of information from DNA to RNA to proteins.
• Sequencing Technologies
  • Sanger Sequencing: Early method for sequencing DNA.
  • Next-Generation Sequencing (NGS): Allows for rapid sequencing of millions of DNA fragments simultaneously.
  • Third-Generation Sequencing: Directly sequences single DNA molecules, producing longer reads.
• Transcriptomics: The study of RNA transcripts to understand gene expression and cellular processes.
  • Techniques include microarrays and RNA sequencing.
• Proteomics: The large-scale study of proteins, their functions, and interactions within biological systems.
• Bioinformatics and Data Sharing
  • Importance of data management and open access databases in genomics research.
  • The role of bioinformatics in analyzing large datasets.
• Future of Medicine
  • The integration of AI and machine learning in healthcare.
  • Blockchain technology for decentralized data management.
  • Potential of DNA as a medium for computing.

Methodology Shared

• Gene Expression Analysis
  • Transcription (DNA to RNA).
  • Translation (RNA to protein).
• Sequencing Techniques
  • Sanger Sequencing: Uses templates and terminator bases for DNA replication.
  • Capillary Sequencing: Uses capillaries for high-throughput DNA sequencing.
  • Next-Generation Sequencing: Massively parallel sequencing of DNA.
• Transcriptomics Techniques
  • Microarrays: Measure transcript abundance via hybridization.
  • RNA-seq: High-throughput sequencing to analyze all transcripts.
• Proteomics Techniques
  • Mass Spectrometry: Analyzing protein structures and interactions.
  • Differential Gel Electrophoresis: Separating proteins for analysis.

Researchers and Sources Featured

• April Wright: NLM All of Us Community Engagement Coordinator.
• Jean-Paul Cornea: Genomic Data Scientist at the University of Maryland, Baltimore.
• Gregor Mendel: Father of Genetics.
• Emory Fisztics: Hungarian sheep breeder who contributed to genetic laws.
• Charles Darwin: Proposed the theory of natural selection.
• Fred Sanger: Developed Sanger Sequencing and won two Nobel Prizes.
• Various bioinformatics centers: Including EMBL EBI, NCBI, and NIG.