Megan Torres Bioinformatics ‘09 Mentor: Dr. Brennan Co-Mentor: Mrs. McMahon Bronx Community College George Washington Carver High School for the Sciences This was my first year in Harlem Children’s society. I worked in Bronx community college with Dr. Brennan as my mentor and Mrs. McMahon as my co-mentor. I was in the bioinformatics group. I learned a lot this summer about protein, bioinformatics, DNA, cancer and other diseases. The first week there Dr. Brennan was the one teaching us but then after that week Mrs. McMahon took over. I appreciate all their time and dedication to us. There were more than 15 people in that classroom and as well as learning and developing new skill I also made new friends and had a lot of fun. The first day we did a packet that had 5 pages it was called “What do genes do?” It spoke about chromosomes and DNA. It says that in the chromosome there is DNA molecules which contain many genes. Each of those genes is specific to a protein. It is written in a sequence of bases containing base pairs (A-T and C-G). It also had a diagram of a small part of one gene that carries coded instructions for one kind of protein. We each got a sheet with base sequences of DNA. Then we compared them with our partners. We had to see how the base sequences are similar, different and if we think both DNA’s will have the same proteins. There was then another paragraph that stated that genes aren’t able to leave the nucleus to carry the instructions to the ribosome, also known as protein factories in the cytoplasm. The packet then explains how a protein is made. A cell must make copies of the coded information that it holds, so that it can move from the nucleus to the ribosomes. The way this information is copied is an enzyme transcribes the genes base sequence to make messenger RNA (mRNA) molecules with opposite base sequences. There is no T is RNA so instead of base pair A-T and T-A it is A-U and U-A, while the others remain the same. Then we compared our mRNA sequences with our partners. We had to see how they are similar, different and if we think both mRNA sequences will have the same proteins. Then it continues on explaining the process of mRNA. The mRNA leaves the nucleus in order to attach itself to a ribosome in the cells cytoplasm. While in the ribosome, the mRNA base sequences are translated to determine the order of amino acid building blocks that will make up a specific protein. Then after we finished with everything with that we had to research the protein affected by gene mutation and 2 symptoms of five different diseases. The diseases were Sickle Cell Anemia, Cystic Fibrosis, Tay-Sachs, PKU (phenylketonuria) and Muscular Dystrophy. That was basically all we did for that first day I was present which was a Wednesday. The next activity we did on a different day was looking for a variation in two different peoples DNA base sequences. Then we did an overview of Sickle Cell Anemia. We were asked questions such as “What are the primary symptoms of sickle cell disease? What happens in a persons body to cause these symptoms?” I answered it by saying “some symptoms are coldness of fingers and toes, chest pain, head aches, muscle/joint aches, dizziness, organ/blood disorders, pale skin and this happens because the red blood cells in the body are distorted. We also role played as if we were a doctor and we tested a ladies two children and compared them to normal DNA without this disease and to DNA with the disease. We had to read a gel electrophoresis test to determine if the children had the disease, were carriers or had no sign of it in their bodies. The tests concluded that the ladies daughter was a carrier while her son did not express nor carry the trait. We also took an inventory of human traits. It asked us about noses, ears, thumb, gender, dimples, hair, eye color, allergies, height, and wrist circumference. After that we were asked to do a simple worksheet about human variation. It asked us questions like “Describe some of the benefits of human genetic variation. What are some of the potential problems that it can cause?” On the 13th of July we had an AIM: how can we construct contigs from DNA strips? She then told us that contigs were overlapping genes. She explained to us we would be role playing as if we were working in a company called Onconomics. An Oncogene allows cancer to develop in the body. Then Mrs. McMahon shared a few facts with us. She told us that breast cancer is most likely to happen after menopause but if women get it before then they can be potentially carrying the BRACA gene. Estrogen is a hormone that protects females from breast cancer to a certain extent. She told us that a polymorphism is a variation in genetics that happen in a population for example in eye color but generally this doesn’t cause disease. If there is a change in DNA that causes a disease or disorder it is called a mutation. She told us that a rational drug design uses DNA and amino acids to find the disease and a specific way to treat it for that person. She gave us DNA sequence to separate into codons which are 3 nucleotides of mRNA which make an amino acid. For another day we continued to work on the Onconomics corporation project. We received a letter from the research director speaking about the OncoX drug which will be entering clinical trials soon. They told us that we must carefully design the most trials to provide the maximum amount of data regarding which types of cancer OncoX is effective treatment. They told us that there sequencing department will send us raw sequence data for assembly and analysis. The DNA sequences they will send us will come from cancer patients and members of their immediate families who have agreed to help them in their efforts. Also they will be sending us a control sequence from a healthy individual who does into have cancer in his or her family. The received samples can be linked with identifiable information. Our lab team assignments were to assemble the complete DNA sequence then to compare the sequences with other lab teams then to consider whether the sequence difference are genetic polymorphisms or a result from errors in sequencing. The last thing we had to do was consider whether the informed consent form signed by the donors provides adequate protection to the individual and to Onconomics. We also had to fill out a sheet called OncoX multiple DNA sequence alignment. We had to go on a website and go through a few things, we then had to use a specific DNA sequence we were assigned and check for mutations. We then had to fill out a worksheet called OncoX electropherogram analysis. We had to go on a website called www.bscs.org/onco then click on the sequencing department, and then click on the sequencing protocols. We had to examine 3 sample electropherograms. We had to fill out a few questions as well. Another day we had to translate reading frames from a DNA strand. It was pretty easy for me and it was kind of fun. She gave us a genetic code amino acid translation chart. It has what amino acid the three codons stand for, for example UUU = Phenylalanine and GAG = Glutamate etc. With that we also had to do an OncoX multiple amino acid sequence alignment worksheet. We had to look at every sequence in each reading from we translated and check for amino acids that were mutated and carried diseases. We also did something called BLAST which stand for Basic Local Alignment Search Tool. There’s two types of Blast’s, there’s BLASTN and BLASTP the And N in BLASTN stands for nucleotide while the P in BLASTP stands for protein. “Which means that the nucleotide or amino acid sequences can be compared depending on which search tool is used”. On another day we played a life game where we had to roll the dice and use the number to see what choices you will make in life. It was pretty fun and I was very healthy at the end and lived for a long time. After we played the game we had a worksheet about the game and what it was for. After we played that game we spoke about small scale mutations. There are base substitutions, deletions and insertions. A base substitution is when there is one nucleotide in error which can cause the whole amino acid to be wrong. There are three types of base substitutions. One of them is called a silent mutation which causes no change and no difference in the amino acid. The second one is a nonsense mutation which is the worst kind because it changes the amino acid to a STOP codon. The last kind of base substitution is called a missense mutation which leads to a new amino acid which can be conservative meaning that it contains the same characteristics or non conservative where it does not contain the same characteristics. Then there is a mutation called deletion which basically some nucleotides are deleted and are missing. Last but no least of the mutation is the insertion which is basically some nucleotides are added to the strand. Then we took a report form from Onconomics. It asked us a few questions about differences in polymorphisms and mutations etc. On another day in this program we searched on line at bscs and pulled up reading frames. We searched through 11 reading frames to look for founder mutation, if affected or a carrier by A-T. We also extracted DNA from a strawberry, it was a GREAT experience. Ho we carried this out was we took a half of a strawberry and placed it into a small baggie and we mashed it. Then we squeezed that into test tube. Then we added soap water and ethanol. The ethanol created a barrier between the two level and we were able to kind of fish out the DNA. On another day we read an article about a gene newly discovered for intelligence. We were asked a few questions such as “what is intelligence and how can it be measured?” I answered that question by saying there is a traditional IQ test but I believe you can measure intelligence by the lack of ignorance. We also watched a few video clips about a lady who might have breast cancer and had to answer questions. One video was about considering if she should take the gene test or not. Another was about talking to her family about this etc. On another day we learned about gene expression. It was said that our genes and our environments mold who we are and our behavior. There was another day that we did a packet about a noel trait. We had to read this packet answer question, record data, transfer data and make graphs. We also tried to see our novelty seeking trait by taking a survey that asked yes or no questions like Would you: drive a car 100 mph, travel alone in a new city, hit a stranger in an argument etc. There were 65 questions like that and I answered 51 of them with a yes which was the highest in our group. That means im more willing to take risks than other people. This was a great learning experience for me and I also learned a lot about myself. Mrs. McMahon is a great person and a great teacher. She always cheered me up because she is just an enriching person. Dr. Brennan is also very intelligent and good at what he does. This program taught me so much, it is hard to try and sum it all up in an essay. I developed skills and had experiences I would have had in a million years. All the HCS staff was very helpful, willing and supportive. Dr. Sat is a great man for starting this program and I thank all of you from the bottom of my heart for letting me experience something so great. THANK YOU ALL SO VERY MUCH =]