final 11,12 !

The assignment is due on Tuesday.

Clearly indicate which statements in the assignment come from which references.

A list of sources for facts used in the main text of the assignment.

Assignments require a specific file naming convention.

Presenting others' work as your own.

Submitting the assignment in a Word or PDF file format.

Sources of information used in an assignment.

A rare genetic disease affecting mucus production in the body.

A disease that affects a small percentage of the population.

A system for evaluating information about a disease.

Information about the origins and development of a disease.

Highest rating in evaluation criteria for disease knowledge.

A rare genetic disorder affecting the breakdown of certain amino acids.

A group of diseases characterized by abnormal protein deposits.

A group of disorders affecting movement and muscle tone.

Numerical rating for how well different criteria are met.

The effectiveness of a treatment in achieving its intended outcome.

Restrictions or constraints on the use of a treatment.

Unwanted physical or psychological effects resulting from treatment.

Methods or actions aimed at preventing a problem from occurring.

Different ways to treat a problem or condition.

A comprehensive, detailed examination of something, considering multiple factors.

Complete information about a subject.

Description and analysis of potential treatments.

Student provided only minimal or general information about treatment, prevention, limitations, side effects, or efficacy.

Student accurately discussed available treatments and their efficacy; discussed potential/available treatments, effectiveness of treatment, limitations, side effects, and relevant factors (e.g. age or gender).

The maximum allowed length of the document is one page (8.5 x 11 inches).

All sides of the paper must have a 1-inch margin.

The document must use either Times New Roman or Arial font.

The font size should be 11 points.

The document should be single-spaced, not double-spaced!

The document needs headings and subheadings to organize information.

A document with a length of less than half a page will be penalized.

A document length between half and full pages will receive some penalty.

Any document exceeding the one-page limit will be penalized.

Assignments must be submitted as a Word (.doc or .docx) or PDF file.

Proteins that enhance gene expression without directly binding to DNA. They interact with the basal transcription machinery, like the pre-initiation complex (PIC), and sometimes histones.

A protein that regulates iron levels in the cell. When iron is low, IRP binds to the iron responsive element (IRE) on ferritin mRNA, blocking translation and preventing ferritin synthesis. When iron is high, IRP binds iron and releases the IRE, allowing ferritin translation.

A mechanism that silences gene expression by degrading specific mRNA molecules. It involves small interfering RNA (siRNA) and microRNA (miRNA), which are processed by Dicer to form the RNA-induced silencing complex (RISC) that targets and degrades complementary mRNA.

A large protein complex that degrades misfolded or damaged proteins, ensuring proper cellular function.

The study of heritable changes in gene expression that occur without altering the DNA sequence itself. These changes can be influenced by environmental factors and lifestyle choices, affecting health and disease.

The study of how a disease affects the body's structure and function. It explores the mechanisms underlying the disease, including its causes, symptoms, and potential consequences.

The criteria for scoring disease knowledge typically assess various aspects of the disease, including its history, global statistics, rarity, pathological features, symptoms, causes, potential consequences, and treatment options. The student's understanding of these aspects is evaluated.

Genetics can play a significant role in the development of many diseases. Genetic mutations can cause certain diseases, and genetic variations can influence an individual's susceptibility to developing a disease or their response to treatment.

Gene expression, the process of converting genetic information into functional proteins, can be altered in disease states. Changes in gene expression can affect protein production, leading to abnormal cellular function and disease development.

Treatment efficacy refers to the effectiveness of a treatment in achieving its desired outcome. It measures how well the treatment works in addressing the specific disease symptoms or conditions.

Treatment limitations are restrictions or constraints on the use of a particular treatment, including factors such as side effects, potential complications, or the availability of the treatment.

Changes in gene expression that occur without altering the DNA sequence itself. These modifications can be influenced by environmental factors and lifestyle choices.

A process where a gene's expression depends on whether it's inherited from the mother or father. Only one copy of the gene is active, while the other is silenced.

One of the two X chromosomes in females is randomly silenced, ensuring equal gene expression compared to males with only one X.

The removal of methyl groups from DNA, which can activate gene expression.

Different tissues within the body have unique methylation patterns, which helps determine their specific functions.

Specialized reproductive cells (sperm and egg) carrying half the genetic material of an organism. They fuse during fertilization, giving the offspring a full set of chromosomes.

A complex structure made of DNA tightly wrapped around proteins called histones. It's the form in which DNA exists within the nucleus of eukaryotic cells.

Proteins that package and organize DNA in the nucleus. They have a positive charge, attracting negatively charged DNA.

The fundamental unit of chromatin structure - consists of a segment of DNA wrapped around a core of eight histone proteins.

Histones that connect nucleosomes, adding to the further compaction of DNA.

A less dense form of chromatin, accessible to the cellular machinery for transcription, meaning genes can be actively expressed.

A tightly packed, dense form of chromatin, containing inactive genes. It's not easily accessible for transcription.

N-terminal regions of histone proteins that extend outwards from the nucleosome. They can be chemically modified, impacting DNA compaction and gene expression.

Modifications like acetylation or methylation can alter the charge and structure of histones. This can loosen or tighten DNA packaging, making genes more or less accessible for transcription.

The biological process that shapes an organism's structure, directing the formation and organization of tissues and organs to create its overall form.

Four transcription factors (Oct4, Klf4, Sox2, c-Myc) that can reprogram the epigenome of somatic cells, converting them into induced pluripotent stem cells (iPSCs).

A metaphor for the dynamic and complex state of cellular differentiation, where cells can be directed along different developmental pathways based on epigenetic modifications.

A gene that influences coat color and obesity in mice. When activated, it leads to yellow fur and obesity; when silenced, it results in brown fur and normal weight.

Research on identical twins reveals how environmental exposures throughout life can lead to differences in their epigenomes, resulting in disparities in health and disease.

The process of altering the epigenome to change gene expression, such as by using Yamanaka factors to convert somatic cells into iPSCs.

The environment can alter the epigenome, affecting gene expression and contributing to health outcomes. For example, maternal diet during pregnancy can influence offspring's epigenetic patterns.

Any biological cells forming the body of a multicellular organism other than gametes (sperm or egg cells) or undifferentiated stem cells.

Cells that have the potential to develop into any cell type in the body, like the cells present in the early embryo.

The activity of a chromatin region depends on the chemical modifications of histone tails. These modifications serve as docking sites for non-histone proteins, affecting how tightly DNA is packed and influencing gene expression.

The overall epigenetic state of a cell, encompassing all of its epigenetic marks and their influence on gene expression.

Factors like diet, exercise, stress, toxins, and hormone levels can all influence epigenetic modifications, impacting gene expression and ultimately health.

A mechanism where gene expression is prevented or significantly reduced, often through epigenetic modifications like methylation or histone modifications.

The process of turning on or enhancing the expression of a gene, often through epigenetic modifications like acetylation or other histone modifications.

These changes can be passed down to future generations, influencing their health and development.

Epigenetic modifications play a crucial role in determining cell fate and differentiation. They help cells to specialize into different types, ultimately establishing the diverse tissues and organs of an organism.

Epigenetic changes are not permanent and can be reversed. Interventions like diet, exercise, and specific therapies can influence epigenetic modifications, potentially restoring healthy gene expression.

An organized structure composed of DNA and proteins that condenses and packages large amounts of DNA into a small space.

A cell containing pairs of chromosomes, with one chromosome from each parent.

A cell containing half the number of chromosomes found in a diploid cell, with only one copy of each chromosome.

One of two identical copies of a replicated chromosome.

Pairs of chromosomes that have the same genes in the same order, but may carry different alleles.

The constricted region of a chromosome that holds the sister chromatids together.

Assignments must be limited to one page (8.5 x 11 inches) in length.

A type of cell division that produces two identical daughter cells, each with the same number of chromosomes as the parent cell.

A specialized cell division that produces gametes (sperm and egg cells) with half the number of chromosomes as the parent cell.

Chromosomes that are not involved in determining sex.

Chromosomes that determine the sex of an individual.

Documents shorter than half a page will be penalized.

Documents between half and full pages will receive some penalty.

Exceeding the one-page limit will be penalized.

This score evaluates how well a student creates and presents a visual representation (like a diagram or pathway) to explain their understanding of a disease's cause. The score accounts for accuracy, completeness, clarity, and originality.

The series of biological processes or events that lead to the development or progression of a disease. This involves understanding how cells, tissues, and organs are affected, and what triggers these changes.

A visual representation of a series of events (like a chain of reactions) involved in a biological process, illustrating how molecules interact and transform. In the context of diseases, it helps understand how a disease progresses at the cellular level.

The specific chemical reactions and processes that occur within cells, leading to changes in the body's structure and function. These changes can play a key role in the development of diseases.

The initial events or factors that trigger the first stage of a disease, which can involve genetic mutations, environmental exposures, abnormal cell behavior, or other factors.

The continuous changes that occur in the body after a disease is initiated, leading to its development and worsening symptoms. It involves the spread, growth, or damage caused by the disease.

Examples of how diseases can be explained using visual representations. For example, a pathway diagram could illustrate how a genetic mutation leads to abnormal protein production, which then disrupts a key cell function leading to disease development.

Chemical modifications to DNA or histone proteins that affect gene expression. They can be like switches, turning genes on or off.

An epigenetic modification where an acetyl group is added to histones. This usually makes genes more active, like flipping a switch to 'on'.

Factors like diet, exercise, stress, and toxins can alter epigenetic modifications, influencing gene expression and potentially affecting health.

The process by which cells become specialized, acquiring unique functions. Epigenetic modifications play a crucial role in this process, guiding cells toward specific fates.

Epigenetic modifications can be passed down from parents to offspring, impacting their health and development. It's one way environment influences future generations.

A region of DNA with a high concentration of cytosine and guanine nucleotides, often located near gene promoters. These islands are frequently targeted by DNA methyltransferases (DNMTs) during methylation.

DNA methyltransferases are enzymes responsible for adding methyl groups to DNA. They play a crucial role in gene silencing and are often found overexpressed in cancer cells, leading to aberrant gene expression.

DNA methylation typically silences genes by changing chromatin structure and preventing transcription factors from binding to DNA. Thus, methylation of CpG islands can turn genes 'off,' while demethylation can reactivate them.

Factors like diet, toxin exposure, stress, and even lifestyle choices can influence the methylation patterns in our DNA. These changes can impact gene expression, potentially contributing to health issues or disease development.