Biomedical Science Camp

  Advanced Health Technology Complete the homework based on teachings in class & extra reading.  Refer health-bioinformatics resources for more relevant information.  Answer in the comment section below  

SNP Complete the homework based on teachings in class & extra reading.  Refer SNP resources for more relevant information.  Answer in the comment section below

Genomic Annotation   Complete the homework based on Resources & extra reading.  Refer genomic-annotation resources for more relevant information.   

Genetic Sequencing DNA sequencing refers to the general laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule. The sequence of the bases (often referred to by the first letters of their chemical names: A, T, C, and G) encodes the biological information that cells use to develop and operate.  Read more Complete the homework by adding your understanding as a comment below. Refer dna-sequencing resources for more relevant information.  Genome Gov illumina Nature Article

Multi-omics Multi-omics, variously called integrated omics, pan-omics, and trans-omics, aims to combine two or more omics data sets to aid in data analysis, visualization and interpretation to determine the mechanism of a biological process. Read More Complete the homework by adding your understanding as a comment below. Refer resources for more relevant information.  NHGRI multi-omics workshop Review Article  Answer in the comment section below

What is Alzheimers? Alzheimer's disease (AD) is a disease where the brain loses its function of thinking, memory, and the ability to carry out the simplest of tasks in extreme conditions. It is mainly considered the disease of old age as most patients get diagnosed by age 65 or older. One of the first symptoms of AD is 'Dementia' where the brain's ability to acquire and process new information decreases with time. Dementia can range in severity from mild form(forgetting something for a few seconds or minutes) to most severe, where the person depends entirely on others for help to carry out basic tasks of everyday life. How is our body affected internally? Scientists have found that the brain goes through severe changes in AD patients. The brain shrinks from its average size and toxic material keeps building up in different brain regions. A high number of protein deposits called Amyloid plaques and Tau tangles are specifically found to be deposited in the AD brain. These

Phosphatase and Tensin Homolog (PTEN)  PTEN is a protein in humans that functions as a tumor  suppressor and a metabolic regulator by promoting COX activity and ATP production. This intercellular protein acts  as a dual-specificity protein phosphatase and a lipid phosphatase deleted on the 10th chromosome. It is expressed  at a relatively high level in all adult tissues, including the heart, brain, liver, kidney, and pancreas. When PTEN is  mutated at high frequency, it results in genetic aberrations consisting of mutations.        Background PTEN mutations most commonly result in breast cancer . Breast cancer can spread when the  cancer cells get into the blood or lymph system and then get carried to other parts of the body. There are many  different types of breast cancer, the most common being carcinomas. This means the cancer starts in cells that  make up the tissue lining organs. PTEN is one of these cells. PTEN is associated with progression of breast  cancer through many ways:

MYC Oncogene The MYC gene encodes a phosphoprotein that plays a role in a variety of cellular processes, including the  cell cycle, cell growth, apoptosis, and cellular metabolism . The gene is located in the long q arm of  chromosome 8  and in the  nucleoplasm  of a cell. It belongs to the basic helix-loop-helix zipper class of transcription factors functioning in the developmental processes. It enforces DNA replication and entry into the S phase of the cell cycle by the expression of  cyclins  and represses kinases inhibitors  p21 and p27 . Through checkpoints, it is restrained from causing tumorigenesis through proliferative arrest, apoptosis, and cell cycle arrest (or cellular senescence). In human cancer, it is frequently observed to be highly amplified, being one of the most amplified oncogenes compared to others. Translocations involving the MYC gene are associated with Burkitt lymphoma , where cancer starts in immune cells called B-cells . The mutation results in the constituti

Neurofibromin 1  (NF1) NF1 is a tumor suppressor gene located on chromosome 17 with 61 exons that serves the role of producing a specific type of protein known as neurofibromin. The neurofibromin protein can be found in various cells, such as nerve cells and oligodendrocytes. This protein is tasked with the important job of regulating cell growth, and making sure cells are multiplying at a normal pace. It does this by directly regulating a different protein known as RAS , which accelerates and promotes cell division and growth when turned on.    Related Diseases Due to NF1’s important role as a tumor suppressor gene, a mutation can cause serious problems and allow several diseases to develop. One example of this is Neurofibromatosis Type 1, a disease that can be induced from over 1,000 different NF1 mutations. The majority of NF1 mutations originate from a missense mutation , and result in a malfunctioning, shortened form of neurofibromin that lacks the capabilities to fully suppress