Biomedical Science Camp

  Mihir Vishwarupe 11th Grade Monta Vista High School Introduction to GWAS & SNPs   This Manhattan plot represents the genes and SNPs involved in kidney stone disease, one of the diseases that can be used to be represented with GWAS. [ 4 ] Single Nucleotide Polymorphisms (SNPs) are biological markers in DNA that are associated with some diseases. SNPs are characterized as single nucleotide differences in the population that appear approximately every 300 base pairs, and can be found on either the coding or noncoding regions of a gene. [1]   Genome-wide association studies, also known as GWAS, enable identification of genes associated with a particular disease (or a specific trait). The vast genome can make it difficult to understand how and where a particular hereditary-linked trait is found in the genome. Single nucleotide variations occurring in many individuals can be classified as SNPs if the variant is found in at least 1% of the population [2] .  In o...

  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 a...

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 ....

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 f...

MOVEMENT   This work was done as a part of Summer Program at Elio Academy of Biomedical Sciences . Author : Riyaa Sri Ramanathan The central nervous system — brain and spinal cord — directs the coordinated actions of the hundreds of muscles that enable humans to move. The nervous system governs motion by controlling the structures of the body that produce movement — the muscles. Most muscles attach to the skeleton and span joints , the sites where two or more bones come together. The relationship of the muscles with the skeleton is called skeletal muscles . Activating muscles can either flex or extend the joint that they span. Muscles that bend a joint, bringing the bones closer together, are called flexors ; muscles that straighten the joint, increasing the angle between the bones, are called extensors .   Flexors and extensors work in opposition, so when one set of muscles contracts, the other relaxes. For example, bending the elbow requires contraction of the...

TASTE AND SMELL  This work was done as a part of Summer Program at Elio Academy of Biomedical Sciences . Author : Riyaa Sri Ramanathan     Sense of taste is called gustation while the sense of smell is called olfaction . Just as sound is the perception of air pressure waves, sight is the perception of light, smell and taste are the perceptions of tiny molecules in the air and in the food. Both of these senses contribute to how food tastes, and are important for survival thereby enabling people to detect hazardous substances that might be inhaled or ingested.  The cells processing taste and smell are exposed to the outside environment, leaving them vulnerable to damage. As a result of this, taste receptor cells and olfactory receptor neurons regularly regenerate. In fact, olfactory neurons are the only sensory neurons that are continually replaced throughout peoples’ lives. Ability to taste food occurs as molecules are released during chewing or drinking. T...

H earing  This work was done as a part of Summer Program at Elio Academy of Biomedical Sciences . Author : Riyaa Sri Ramanathan     Human h earing is one of the most important senses, central to social interactions. Communication within one another happens by processing and interpreting complex messages in the form of speech sounds. Hearing (auditory) system picks up several qualities of signals it detects, such as a sound’s pitch, loudness, duration, and location. Auditory system also analyzes complex sounds, breaking them into separate components or frequencies. Process of hearing happens in a more incremental way. Hearing involves a series of steps that convert sound waves in the air into electrical signals that are carried to the brain by nerve cells. Sound in the form of air pressure waves reaches the pinnae of the ears, where the waves are funneled into each ear canal to reach the eardrum , also known as tympanic membrane . The eardrum vibrates in resp...