Module 1: Introduction to Genomic Medicine and Culinary Genomics · 2017. 6. 20. · Genetic...

Module 1: Introduction to Genomic Medicine and Culinary Genomics

© 2017 Genoma International All rights reserved.

Module 1: Introduction to Genomic Medicine and Culinary Genomics

J. R. Veltmann PhD FAAIM DCCN Roberta L. Kline MD FACOG

Amanda Archibald RD


Part 1: The Genomic Revolution in Medicine


Part 1 Learning ObjectivesSection 1:• Landmarks in the history of

genetics and genomics.• Review:

– The Human Genome Project (2003).

– 1000 Genomes Project Consortium (2015).

Section 2:– Significance of These Projects

on Human Health and Disease.• The Omics Revolution.


The Birth of a New Science: Genetics1801 Lamarck’s “Theory of Inheritance

of Acquired Characteristics”.1859 Darwin’s “The Origin of Species”.1865 Mendel publishes work on

inheritance.1882 Fleming discovers chromosomes.

Significance: We uncover the laws of heredity.


Genetic Discoveries in the 20th Century1908 Garrod: inborn errors of

metabolism.1927 Mutations created by x‐

irradiation.1944 Genetic information in the

DNA molecule.1953 Watson and Crick:

Construct DNA Molecule.


Genetic Projects in the 21st Century

• 2003: Human Genome Project.• 2015: 1000 Genomes Project Consortium.

• 2016: 1000 Genomes Project Allele Frequency.

• 2016: 1000 Genomes Project Structural Variation.

• 2016: Precision Medicine Initiative.

• Sequence human DNA to understand a disease process.

• Determine how alterations in genes lead to diseases in humans.

• Identify personalized strategies to prevent or treat inherited and non‐inherited disease in humans—personalized medicine.

• Utilize “OMICS” to advance science and medicine.


Human Genome Project (2003)• 99.9 % human DNA identical.• 3.5 billion chemical base pairs (nucleotides) make up human DNA.

• 20,000 to 30,000 genes in human DNA.

• About 10 million SNPs (single nucleotide polymorphisms) in human genome.

• Over 2,000 genes related to human disease.

Source: Genome.gov


Synthesizing the Human Genome: HGP‐Write

Source: http://science.sciencemag.org/content/sci/early/2016/06/03/science.aaf6850.full.pdf.


1000 Genomes Project Consortium (2015)

• Catalogue gene variants of 2,500+ people.

• Africa, East and South Asia, Europe and Americas.

• Working Hypothesis: Studying genetic variants between ethnicities can explain chronic diseases in humans.


Important NEW Facts:1000 Genomes Project Consortium

• 88 million sites in human genome that vary among people.– 84.7 million (96%) sites associated with a difference in a single DNA building block or SNP (single nucleotide polymorphism).

• 4.1 to 5 million sites associated with how each person is different from another.

• About 10 million SNPs in human genome; (confirms estimate from Human Genome Project).


“Omics” and its Role in Science and Medicine

• Basic Sciences.• Molecular Biology.• Clinical Medicine.

– Cancer.– Disease Prevention.

• Nutrition Science.• Microbiome.• Epigenome.• Psycho‐Social Health. Image Source :http://www.clinicalomics.com/


“Omics” in the Basic Sciences • Genomics: studies DNA sequence or structures of the genome.

• Functional Genomics: focuses on identifying the functions of as many genes (transcription, translation, regulation of gene expression and protein‐protein interactions) as possible of a given organism using many different –omics techniques.


“Omics” in the Basic Sciences • Comparative Genomics: examines relationship of genome structure and function across different biological species or strains.–Which genes are conserved through evolution?– Is gene function in one species homologous to another?

• Computational Genomics: uses computational and statistical analysis to understand the function of genes from DNA and RNA sequences, and to discover how DNA of a species controls its biology at the molecular level.


“Omics” in Molecular Biology• Transcriptomics: studies structure and function of all RNA molecules (mRNA, rRNA, tRNA, and other non‐coding RNA) in one cell or populations of cells.

• Proteomics: large‐scale studies of proteins, particularly their structures and functions.– Immunoproteomics: study of large sets of proteins involved in the immune response.

• Metabolomics: studies chemical processes involving metabolites‐‐unique chemical fingerprints that specific cellular processes leave behind.


From Genome to Metabolome: The Fabric Of Life

Sugars

Amino AcidsLipids

Nucelotides

Transcription

Translation

Nucleus

Cytoplasm


Adapted from : http://www.eatrightpro.org/resource/practice/position‐and‐practice‐papers/position‐papers/nutritional‐genomics

Take‐Aways from Part 1, Section 1• Genomics has it roots in Genetics

– Genetics: study of heredity, role and function of a single gene and its impact on inherited phenotypic traits

– Genomics: studies structure and function of all the genes in the human genome and the interactions between genes and environmental factors

• Human Genome Project and 1000 Genomes Project: contribute to understanding similarities and differences in a person’s susceptibility to chronic diseases

• The “Omics” Revolution in Basic Sciences


Module 1: Introduction to Genomic Medicine and Culinary Genomics · 2017. 6. 20. · Genetic...

Documents

Transcript of Module 1: Introduction to Genomic Medicine and Culinary Genomics · 2017. 6. 20. · Genetic...