Genomes, Disorders, and Databases Isabel C. Ibarra Soto Episcopal Cathedral School ABSTRACT RESULTS This project investigates all four types of genetic disorders in order to find out which is the most common among the Puerto Rican community. With this information, this project addressed how the Human Genome Project has helped the scientific community to find cures for this type of disorders. Throughout this extensive Internet research, it was found that the most common type of genetic diseases in Puerto Rican society are the multifactorial genetic diseases. Thanks to advances in the Human Genome Project, single-gene genetic disorders have been getting treatments but since multifactorial genetic disorders have the environmental factor included for the cure for this type of disease, it has been difficult to address and much more difficult to solve or find a cure for it. Estimates and prognosis state that the cure for this type of diseases will most likely be found in about 20 years. Types of Genetic Disorders Single-gene Mutation of one gene Inherited disorders in recognizable patterns Multifactorial Mutations in various genes Environmental factors Harder to find cures to Chromosomal Abnormalities in the chromosomes such as missing or extra chromosomes. Mitochondrial Mutation in the nonchromosomal DNA of mitochondria Rare type of genetic disorder Affect various organ systems PURPOSE AND HYPOTHESIS The purpose of this project is to be able to compare the four types of genetic disorder that exist in order to find out which one is most common in Puerto Rican society. This project will also research how advances in the Human Genome Project have helped to achieve a cure for this type of genetic disorder. My hypothesis for this project is that the most common genetic diseases are from the mutlifactorial type. Also I believe that cures for this type of disease hasn't been found because multifactorial diseases have the environmental factor included which makes each case unique in its way. Genome sequencing process. CHART Gene therapy cycle. Where genes come from chart. CONCLUSIONS Human chromosomes. CHART o Breast cancer genes. VITAL INFORMATION Which type of genetic disorders is the one most common in Puerto Rico? How has the Human Genome Project helped to achieve cures for this type of genetic disorders and others as well? These are the question of today. The study of genetics began with Gregor Mendel and his pea plant experiment in the 17th century. From his experiment Mendel discovered three laws of heredity and proved the existence of genes, because of this he is now considered the Father of Genetics. Other milestones in genetics were the discovery of genetic diseases by the alteration of a gene by Vernon Ingram, the invention of the GenBank database in 1982, the beginning of the Human Genome Project, and the ending of the mentioned project in 2003. Because of these discoveries, among other ones, the causes of genetic disorders have been discovered and classified among four different types. As well, the Human Genome Project and other milestones have helped the scientific community come closer to achieving cures for genetic diseases. These achievements would not be happening if it wasn’t for the fact that databases exist and they help organize vast amounts of data. Genes are specific sequences of bases that encode instructions on how to make proteins. Genes are in chromosomes, which are separate molecule of DNA. DNA contains the genetic material that all living organisms have. A genome is an organism’s complete set of DNA. Proteins do the actual work that the genes hold the instructions to. Genetic disorders or diseases are conditions that are caused by defective genes. There are four types of genetic disorders: single-gene, multifactorial, mitochondrial, and chromosomal disorders. Single-gene disorders are disorders in which there is a mutation in a single gene. This type of disease results in a pattern, this pattern is how we inherit diseases, autosomal dominant trait, autosomal recessive trait, and x-linked trait. An autosomal dominant trait happens when one parent has an abnormal gene in an autosomal chromosome, one of the first 22 non-sex chromosome, to pass it to his or her child. An autosomal recessive trait happens when both parents need to have the abnormal gene in order for the child to get it. X-linked traits are diseases that are passed from parent to offspring through the sex chromosomes. Multifactorial disorders are caused by not only mutations in various genes but environmental and a lifestyle factor, because of this it is hard to study and find cures to. Chromosomal disorders are disorders in which there are missing, extra copies, or breaks and rejoicings in the chromosome structure. Mitochondrial disorders are located in the DNA inside the mitochondria. These disorders happen because of mutations that happen in the non chromosomal DNA inside the mitochondria and they tend to affect multiple organ systems. The Human Genome Project began in 1990 and was programmed to end in 2005 but ended in 2003 due to advances in technology. This project was a result of the U.S. Department of Energy and the National Institutes of Health. The Human Genome Project was an international scientific project in which the main goal was to identify the 20,000-25,000 genes in the human body. Other goals from this project were to store the gathered information in databases, determine the sequence of 3 billion chemical bases that make up the human DNA, improve the tools available for data analysis, and address the ethical, legal, and social issues that may arise because of the investigation. The accomplishments of the Human Genome Project were the sequencing of 99.99% of the entire human genome. This helped identified the location of genes and provided information about the structure and organization. Another goal was the sequencing of several other organisms such as the mouse and roundworm. All this information was stored in databases. ` From studies of the Human Genome Project there were various new ways being researched of how to diagnose, treat, and prevent genetic diseases. Gene testing is used to diagnose and confirm diseases. Although it is great to confirm diseases the drawback of this testing is the fact that the test may not detect every mutation and therefore not detect the diseases. A way to treat diseases which is being researched is pharmacogenomics. Pharmacogenomics’s goal is to produce drugs in a more customized matter therefore treating diseases in the multifactorial are. Another way to treat diseases is gene therapy. Gene therapies’ goal is to fix the mutated gene. The field of bioinformatics merges the fields of biology, computer science, and information technology to manage and analyze the data in order to understand and model living systems. This field helped the Human Genome Project to store, distribute, and analyze the compiled data. This field demands for new and innovative ways to store data be created and modified continuously. More genetic research holds a promising future for the world of science. One of these prognostics is molecular medicine. The future of molecular medicine hold the hopes of improving disease diagnose, detect genetic predisposition to diseases, use gene therapy and control systems as drugs, and create drugs based on an individual’s genetic profile and on molecular information. Other hopes in genetic research include the field of microbial genomics, risk assessment, DNA identification, agriculture, livestock breeding, bioprocessing, bioarcheology, anthropology, evolution, and human migration. From the four different types of genetic disorders: single-gene, multifactorial, chromosomal, and mitochondrial diseases. Multifactorial diseases are the most complex and the most common one of all. This type of disease has the environmental factor included. The environmental factor refers to the lifestyle choices such as diet, the actual environment a person lives in , among other things. Even though it is a pretty complex type of disease it seems to be the most common and the most difficult to find a definitive cure to. There are some immediate cure such as pills to take every day but not a cure that a person will only take once and they are cured for life. That type of technology is about 20 years away but we are getting closer every day. A treatment that has been working for some time is gene therapy, in which cells from a person are taken into a laboratory and are injected a modified virus which is later injected back into the person’s body. Later these cells reproduce the desired protein. This treatment has worked in adrenoleukodystrophy (ALD), the disease featured in the film Lorenzo’s oil. Although a person must go through this treatment several times researchers are still looking for one-time cure. BIBLIOGRAPHY Human Genome Project Information. (2008). About the Human Genome Project. http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml Human Genome Project Information. (2008). Genetic Disease Information. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml Human Genome Project Information. (2008). The Science Behind the Human Genome Project. http://www.ornl.gov/sci/techresources/Human_Genome/project/info.shtml Lei. (2006). Ten Most Common Inherited Genetic Diseases. http://blisstree.com/feel/ten-most-common-inherited-genetic-diseases/ National Genome Research Institute. (2009). CD-ROM Multimedia Downloads. http://www.genome.gov/19519278#al-1 U.S. Department of Energy Genome Research Programs. (2008). Genomics and Its Impact on Science and Society. http://www.ornl.gov/sci/techresources/Human_Genome/publicat/primer2001/primer11.pdf ACKNOWLEDGEMENTS Special thanks to: Dr. Angel Caraballo, Prof. Irma Alvarez, Evelyn Haddock, and CCCE Research Program.