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Although genetic factors contribute to congenital heart disease, many children born with heart defects have healthy parents and siblings, suggesting that new mutations that arise spontaneously -- known as de novo mutations -- might contribute to the disease. New research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents of affected children.

The Great Diseases curriculum is targeted to elective biology (Biology II). It is divided into four different modules. Each module consists of a 6-week course that is focused on a specific class of disease. Within each module, there are five units, each corresponding to a week's worth of lessons. Within each unit there are therefore approximately five forty-five minute lessons. Each module has been designed so it is thoroughly aligned with the Next Generation Science Standards.

"Now we have evidence that urinary odor signatures can be altered by changes in the brain characteristic of Alzheimer's disease," said Dr. Bruce Kimball, a chemical ecologist at the USDA National Wildlife Research Center, in a news release. "This finding may also have implications for other neurologic diseases."

This case study describes a visit by "Naomi" to her physician, who upon seeing Naomi's bloodwork decides to prescribe her a cholesterol-lowering agent, a statin. The case discusses (1) the prevalence of non-communicable diseases such as atherosclerosis, which can lead to strokes and heart disease; (2) circulating lipoprotein particles including LDL and HDL, differentiating between which is a risk factor for heart disease and which is protective;  (3) the pathway for cholesterol synthesis; (4) the evidence demonstrating that statins inhibit the enzyme HMG-CoA reductase, which is the committed step for cholesterol synthesis; and (5) the kinetic mechanism by which statins inhibit the enzyme. Students examine and interpret data from radioactive tracer and enzyme kinetics studies. The case ends with another visit by Naomi to her physician, who reexamines her bloodwork after she has been taking a statin for six months. Students are asked to determine whether the drug was effective for Naomi and, if not, what changes could be made to her regimen. The case was originally written for use in a survey of biochemistry course for upper level undergraduates.

More than 40 million people worldwide suffer from Alzheimer's disease, and that number is expected to increase drastically in the coming years. But no real progress has been made in the fight against the disease since its classification more than 100 years ago. Scientist Samuel Cohen shares a new breakthrough in Alzheimer's research from his lab as well as a message of hope. "Alzheimer's is a disease," Cohen says, "and we can cure it."

Mitochondrial diseases are a group of disorders caused by genetic mutations. In this animation, Nature Video finds out how these diseases arise, and how new techniques can stop them being passed on from mother to child.

Health care costs have been a hot button topic in recent years, and rightfully so. The United States spends an extraordinary amount of money on health care each year - $9,523 for every man, woman and child to be exact. This totals over 1 trillion dollars, accounting for roughly 17 percent of the United States' gross domestic product (GDP). The federal government spends 27 percent of its total budget on health care. Astonishingly more than it spends on the military, food and agriculture, education, transportation, and international affairs combined. So where is all the money going? Strangely enough, to combat just a few diseases.

In this interrupted case study, students shadow an endocrinologist as she tries to determine what is wrong with Angela Barber. Angela is a middle-aged woman presenting with symptoms suggestive of a thyroid issue. Students are given background information, patient history, and results from thyroid-specific blood tests. The exercise emphasizes the hypothalamic-pituitary-thyroid axis and particularly highlights the role of negative feedback. Students will use results from serum thyrotropin and thyroid hormone level tests, as well as patient symptoms, to come up with a diagnosis. In preparation for the diagnosis, students are asked to compare the endocrine profiles of patients with Graves' disease, Hashimoto's disease, iodine deficiency (primary hypothyroidism), and various tumors. The case was developed for college-level biology majors in a physiology course, but also has been used successfully for pre-nursing students in a non-majors anatomy and physiology course. Thus, this activity would be suitable for majors in physiology or pre-medical students, as well as allied health majors.

In a retrospective cohort study investigating the role of epigenetic control in the onset of allergic diseases, it was shown that mothers who suffered from allergic symptoms very early in pregnancy were more likely to have offspring with allergies. This was compared to mothers who did not suffer from allergies in early pregnancy, taking into account family history of allergies and total allergic response during pregnancy (10). These results indicate that gene-environment interactions during embryonic development may modify the epigenetic code in ways that may potentially lead to allergic disease.

Adverse life experiences, particularly those in childhood, contribute to disease morbidity and mortality [1, 2, 3, 4, 5, 6, 7]. There is considerable interest in understanding the mechanisms through which they do so, as it remains unclear how illness becomes apparent decades after the presumed initiating event. Long-standing hypotheses include chronic activation of the hypothalamic-pituitary-adrenal axis [8, 9, 10] and alterations of neuroimmune function [11]. Molecular signatures of stressful life experiences and their relation to disease are therefore of special interest to clarify the causal relationship between signature, disease, and stress.

Emerging diseases and potential pandemics make the news nearly every year. Students (and everyone else) may wonder where new infectious diseases come from, how scientists assess the risk of a pandemic, and how we might go about preventing one. This case study uses a PowerPoint presentation to explore these questions by focusing on HIV, a pandemic that began as an emerging disease. The storyline progresses backwards through time as scientists attempt to unravel the origins of a new, mysterious plague. Much of the case relies on audio excerpts from an episode produced by Radiolab, an acclaimed radio show that explores a variety of topics in science and culture (www. radiolab.org). Students use graphics, animations, and sound clips presented in the PowerPoint slides to discuss several sets of questions. The case is suitable for a wide range of high school and college introductory biology courses, as well as undergraduate microbiology, ethics, and public health courses.

Now, University of Missouri researchers have determined that a compound found in green tea, and voluntary exercise, slows the progression of the disease in mice and may reverse its effects. Further study of the commonly found extract could lead to advancements in the treatment and prevention of Alzheimer's disease in humans.

3:49 video, Alzheimer's disease is the most common cause of dementia, affecting over 40 million people worldwide. And though it was discovered over a century ago, scientists are still grappling for a cure. Ivan Seah Yu Jun describes how Alzheimer's affects the brain, shedding light on the different stages of this complicated, destructive disease.

Dogs are excellent models for studying genetics, especially disease genetics. Work done in the last 20 years has shown that dogs share many gene-related disorders with people. Each breed is a closed reproductive population with distinct rates of heritable diseases, which dramatically increases the odds of finding disease-related loci. In creating new dog breeds, we reduce the gene pool within those populations, and fix many alleles. This homogeneous background makes it much easier to map QTLs and perform linkage analyses

Imagine what we could learn about diseases by studying the history of human disease, from ancient hominids to the present. But how? TED Fellow Christina Warinner is an achaeological geneticist, and she's found a spectacular new tool - the microbial DNA in fossilized dental plaque.

A powerful tool called pVAAST that combines linkage analysis with case control association has been developed to help researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before. The researchers describe cases in which pVAAST (the pedigree Variant Annotation, Analysis and Search Tool) identified mutations in two families with separate diseases and a de novo or new variation in a 12-year-old who was the only one in his family to suffer from a mysterious and life threatening intestinal problem.

But when Sokol did a comparative DNA analysis of diseased sections of intestine surgically removed from the patients, he observed a relative depletion of just one common bacterium, Faecalibacterium prausnitzii. Rather than "bad" microbes prompting disease, he wondered, could a single "good" microbe prevent disease?

A person may become immune to a specific disease in several ways. For some illnesses, such as measles and chickenpox, having the disease usually leads to lifelong immunity to it. Vaccination is another way to become immune to a disease.

This video excerpt from NOVA examines the dilemma some people face when they are deciding whether to undergo genetic testing. Journalist Catherine Elton describes her decision to refuse a test for BRCA1, a mutation that signals an increased risk of breast and ovarian cancers, despite the history of disease in her family. The video also explains that genetic testing results can help some individuals improve their wellness, prevent the onset of diseases they are at risk for, or lessen the harmfulness of diseases they do contract.

For the second time in four months, researchers have reported autopsy results that suggest Alzheimer's disease might occasionally be transmitted to people during certain medical treatments-although scientists say that neither set of findings is conclusive. The latest autopsies, described in the Swiss Medical Weekly on January 26, were conducted on the brains of seven people who died of the rare, brain-wasting Creutzfeldt-Jakob disease (CJD). Decades before their deaths, the individuals had all received surgical grafts of dura mater-the membrane that covers the brain and spinal cord. These grafts had been prepared from human cadavers and were contaminated with the prion protein that causes CJD.