1. Timeline
1.1. 1984-86: Meeting to discuss the startup of a Human Genome Project
1.1.1. 1988: NIH gathers scientists, admins, and science policy experts to plan the project
1.1.2. 1988: National Research Council Commission on Life Sciences, and the U.S Congress Office of Technology and Assessment recomend concerted genome project
1.1.2.1. 1989: HHS makes National Center for Human Genome Research with James D. Watson as director
1.1.2.1.1. 1989-1990: The NIH and Department of Energy to establish an Ethical, Legal, and Social Implications Research Program
1.1.3. 1988: NIH and DOE sign a memorandum of understanding to coordinate research and tech activity
2. "One Humanity, Many Genomes" meaning
2.1. I believe this quote means that although we all share the commonality of being human, there are many different genomes.
2.1.1. Genetic Mutation
2.1.2. 0.1 percent different in humans
3. How advances in understanding our genomes impact our lives, such as current and future research into medical treatments.
3.1. Helps us understand why some genomes function abnormally
3.2. Made us advance our DNA sequencing and analysis, leading to advancements in computer analysis of data
3.3. Some rare diseases are genetic mutations in only one gene, essentially a needle in a haystack
3.3.1. Genetic discoveries are allowing us to create different treatments and diagnosis for diseases
3.4. Can help us deal with diseases like cancer, hypertension, alzheimers, diabetes.
3.4.1. Can add to specified healthcare, individual specific
3.5. A Turning Point in Cancer Research: Sequencing the Human Genome
3.5.1. Using the sequence to understand the genetic basis of breast cancer
3.6. Identification of mutations linked to different forms of cancer
3.7. The design of medication and more accurate prediction of their effects
3.8. Started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, hemostasis disorders, cystic fibrosis, liver diseases and many others
3.9. Study of evolution
3.10. "A variety of strategies have been used to identify human genes, especially those genes that are responsible for disease. Once a disease gene has been identified, this information can be used to develop new diagnostic and therapeutic procedures."
3.11. Moonshot initiative
3.12. Some rare diseases are caused by a change in just one genome
4. What is a genome
4.1. Complete set of genetic instructions
4.2. Each cell in the body contains this set of instructions
4.3. Code is determined by four nucleotide bases: Adenine, Cytosine, Guanine, and Thymine
4.4. Genome is made up of DNA
4.5. Single strands of DNA are coiled into things called chromosomes
4.6. Chromosomes are in the nucleus of a cell
4.7. Within the chromosomes, sections of DNA are "read" to form genes
4.8. Genes control things like eye color and height
4.9. All living things have a unique genome
4.10. Human genome is made up of 3.2 billion bases of DNA
4.11. Mitochondria have their own DNA, called mtDNA
4.11.1. This mtDNA are passed from mother to child over generations,
4.11.2. A natural mutation of this mtDNA will characterize her descendants
4.11.3. Occasional mutation and the inheritance of mtDNA
4.12. A genome sequence provides a natural framework to organize biological data
4.12.1. The range of biological data for humans is larger than other organisms, ranging from clinical genetics to molecular biology
4.12.2. The draft human genome allows these massive amounts of data to be brought together systematically
4.12.3. Data includes all records of diseases in our species to the sequences of related organisms
5. What is the human genome project
5.1. Produced a genome sequence that accounted for over 90% of the human genome
5.2. Goal was to sequence the entire human genome, as well as a couple other non-human genomes
5.3. The non-human organisms were: E. coli, bakers yeast, fruit fly, nematode and mouse
5.4. DNA sequencing is the process of determining the exact number of bases (A,C,G,and T) that make up parts of DNA
5.5. Improved DNA sequencing to achieve their goal, used the method called Sanger DNA sequencing
5.6. Multiple people had their DNA sequenced during this project
5.7. In 2000 they were able to produce a sequence accounting for 90% of the human genome, with more than 150,000 areas where the DNA sequence was unknown
5.8. In 2003 the consortium managed to create an essentially complete sequence, accounting for 92% of the human genome and less than 400 gaps
5.9. In 2022 the T2T consortium announced they had filled the gaps, making the first complete human genome sequence
6. Got people into data sharing
7. Whole Genome Sequencing
7.1. Step 1: DNA shearing, scientists use molecular scissors to cut DNA into pieces small enough for a sequencing machine to read
7.2. Step 2: DNA bar coding, scientists add small DNA tags to identify which piece of sheared DNA belongs to which bacteria
7.3. Step 3: DNA sequencing, the bar coded DNA from multiple bacteria is combined and put in a sequencer, which identifies the bases that make up the sequence.
7.4. Step 4: Data Analysis, scientists use data analysis machine to compare the sequences and identify the differences. Using these similarities and differences, they can tell how closely related they are, and how likely it is they are part of the same outbreak
7.5. Advancements
7.5.1. Detecting trends in food-borne diseases
7.5.2. Trends in antimicrobial resistance
7.6. PulseNet
7.6.1. Training public health laboratory scientists to perform whole genome sequencing
7.6.2. Purchasing equiptment and supplies
7.6.3. Updating data analysis systems and software
8. DNA Nucleotide
8.1. Sugar
8.1.1. DNA Structural backbone
8.2. Phosphate groups
8.3. One of four nitrogenous bases
8.3.1. Determine DNA sequence
8.4. Chemical properties allow bonds to form between bases
8.5. Two hydrogen bonds pair A and T
8.6. Three hydrogen bonds pair C and G
8.7. Different cells have different appearance and function, but have the same genome with 3 billion bases of DNA
8.8. Wrapped around hitsone proteins
8.8.1. Forms DNA Protein structure called nucleosome
8.8.1.1. These structures are further condensed to create a chromosome
8.8.1.1.1. 46 chromosomes
9. Thesis
9.1. The understanding of our genome has greatly advanced our ideas for medical treatments, and our knowledge of our unique genomes
9.2. The Human Genome Project has allowed us research into medical treatments and understanding of what makes our genome unique
9.3. The sequencing of the first human genome has let us understand how our genome is unique, and allowed us insight into future and current medical treatments
9.4. From the sequencing of the first human genome, there has been advances in our understanding of possible and active medical treatments, and our knowledge of how our genome is unique
9.5. The phrase "one humanity, many genomes" represents how we as people may be 99.9% alike, but that one percent makes us extremely unique
9.6. The phrase "one humanity, many genomes" represents how although we share the commonality of being human, our genomes are highly unique
10. Race for Adam
10.1. Niemann-Pick type C
10.2. Group of diseases that affect metabolism which are caused by genetic mutations
10.3. Type C
10.3.1. Patients are not able to metabolize cholesterol and other lipids correctly in a cell
10.3.2. Excessive amounts of cholesterol accumulate within the liver and spleen
10.3.3. Excessive amounts of other lipids accumulate in the brain
10.3.4. Type C causes a secondary reduction of ASM activity
10.3.4.1. Acid sphingomyelinase deficiency (ASMD) is a genetic disorder in which fatty substances accumulate abnormally inside cells in various body parts.
10.4. Less than 200 people nationwide
10.5. Always fatal
10.6. Notre Dame researchers discovered a compound that may correct NPC's cell damage.
10.7. Recke is raising money to find a cure, both for his son and others who are in need of it
10.8. Non-profit organization dedicated to funding research projects to find a cure for NP-C
10.9. Would've been impossible to understand and work on without the Human Genome Project
11. DNA pregnancy test
11.1. Can detect chromosomal abnormalities in the babies
11.2. Can tell the babies sex
11.3. Looks at the DNA in a pregnant persons bloodstream, find cells released by placenta, which will have the same genetic makeup as the fetus
11.4. Has reduced number of amniocentesis procedures
11.5. Also inadvertently screens for cancer, finding malignant cells in the DNA of the mother
11.5.1. Screens for multiple cancers
11.6. Biden trying to make an annual blood test, since it would detect it early when treatments are most effective
11.7. IDENTIFY
12. Spur technology
12.1. Sequencing started by hand
12.2. Started getting into more large scale sequencing combining the ability of searching by computer
12.3. Genetic code is like binary, just using four codes
13. Two examples of what makes our genomes unique
13.1. We are still discovering new genomic variants within humans
13.2. At least 10 genes contribute to eye color
13.3. Height is controlled by around 700 genes
13.4. Genomic variants contribute to skin color
13.5. The hair color of most redheads is due to one of three single-base changes in a particular gene
13.6. The genome in one tissue is not always the same as in another
13.7. Genomes have varied to create different skin colors to adapt to geography and UV radiation
13.8. Freckles, different earwax, colorblind, food tastes.
13.9. Single cell anemia, cystic fibrosis, huntingtons disease
13.10. Depression, cancer
13.11. The .1 percent difference is responsible for about 3 million differences
13.11.1. About 20,000 of these are in protein coding genes
13.11.2. Although this is equal to about 1 difference per gene, they are not evenly distributed
13.11.2.1. These since cell variants are called "Single Nucleotide Variants"
13.11.2.1.1. This would be one of the four bases being a different letter such as AAGA changing to GAGA
13.11.2.1.2. When these occur in more than 1% of a population they are called "Single Nucleotide Polymorphisms
13.11.3. These differences are called variants
13.12. Human specific differences
13.12.1. Protein-coding changes
13.12.2. Gene expression difference
13.12.3. Genomic structural variation