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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.

The external environment's effects upon genes can influence disease, and some of these effects can be inherited in humans. Studies investigating how environmental factors impact the genetics of an individual's offspring are difficult to design. However, in certain parts of the world in which social systems are highly centralized, environmental information that might have influenced families can be obtained. For example, Swedish scientists recently conducted investigations examining whether nutrition affected the death rate associated with cardiovascular disease and diabetes and whether these effects were passed from parents to their children and grandchildren (Kaati et al., 2002). These researchers estimated how much access individuals had to food by examining records of annual harvests and food prices in Sweden across three generations of families, starting as far back as the 1890s. These researchers found that if a father did not have enough food available to him during a critical period in his development just before puberty, his sons were less likely to die from cardiovascular disease. Remarkably, death related to diabetes increased for children if food was plentiful during this critical period for the paternal grandfather, but it decreased when excess food was available to the father. These findings suggest that diet can cause changes to genes that are passed down though generations by the males in a family, and that these alterations can affect susceptibility to certain diseases. But what are these changes, and how are they remembered? The answers to questions such as these lie in the concept of epigenetics.

Use this movie to spark discussion with students about what it means to be at risk, health family history and why it is important. The movie also acts as a teaser to excite student interest before doing the Risk Continuum and Pick The Risk activities.

Deep-sea mystery solved: astonishing larval transformation and extreme sexual dimorphism unite three fish families by Johnson, et al. (2009)* published in Biology Letters, Royal Society. The deep sea fishes at the heart of the investigation and this activity were historically classified into three families or clades based on the obvious morphological differences between the members of each group. 

This case study synthesizes students' knowledge of the central dogma and cell structure by examining a rare health disorder in order to understand protein targeting and its medical consequences. Students first identify the molecular alteration in affected members of a family with renal Fanconi syndrome as reported in the New England Journal of Medicine (2014). Students then use an online bioinformatics tool to analyze the wildtype and mutant proteins and examine their subcellular localization. Finally, students use this information to explain the symptoms of affected family members. The case is delivered with a PowerPoint presentation that includes a selection of brainstorming prompts and "clicker questions." Students complete a worksheet (included in the teaching notes) before class, making the activity suitable for a flipped classroom. A second worksheet (also included in the teaching notes) is completed during class. The case is written for an introductory biology course for majors, but could also be used as a unit capstone in a non-majors human biology course; the case is also scalable to upper division courses in physiology that specifically explore kidney function.

Family resemblance is hard to hide! Genetics are powerful when it comes to determining how you look, grow, and develop, and you get your genetics directly from mom and dad. Plus, growing up watching and learning from your parents only makes you that much more likely to pick up their mannerisms, along with a combination of their physical attributes.

Interactive genetics site.  Straight forward games based on Punnett squares using bunny families.

Taylor must write a report about a natural toxin while she is home from college on break. After a family dinner conversation about the latest attempt to poison a politician via a letter, Taylor decides to explore how ricin acts as a poison. Students work in small groups to help Taylor by working through figures from primary literature papers and exploring the use of an in vitro translation system, sucrose gradient fractionation and the effect of inhibiting various steps of translation.  A shorter, second day activity involves students looking further at the effect of ricin upon ribosome function and at the ricin protein itself.  Students individually complete a cumulative assignment of writing a letter back to Mom and Dad about how ricin has its effects. This case was designed for use in a second semester biochemistry course or a molecular biology course that incorporates the mechanism of transcription. Prerequisite knowledge includes a general understanding of the steps of translation and the ability to interpret data from agarose gels.

iKeepSafe is dedicated to the education of families on how to stay safe online. That's why we've teamed up with Google to develop curriculum that educators can use in the classroom to teach what it means to be a responsible digital citizen. The curriculum is designed to be interactive, discussion filled and allow students to learn through hands-on and scenario activities. Each workshop contains a resource booklet for both educators and students that can be downloaded in PDF form, presentations to accompany the lesson and animated videos to help frame the conversation.

Researchers have long known that women whose families include fraternal twins are more likely to give birth to twins themselves, and they're finally starting to figure out why. After scanning data from nearly 2000 mothers of fraternal twins, scientists from eight countries found two genes that increase a woman's chance of having twins-one that affects hormone levels and another that may alter how ovaries respond to them. The second of these may also have implications for why some women respond better than others to in vitro fertilization.

In this interrupted case study students analyze the complexities surrounding identification and confirmation of cancer clusters. The case challenges students to consider the evidence from two different perspectives; a local family physician representing the community, and a cluster investigation officer who has worked on several cancer cluster investigations. This case was inspired by the discussion about a possible cancer cluster in Clyde, Ohio, where around 20 cases of childhood cancer since 2001 fueled public concern, leading to an investigation by the Ohio department of health in 2006. This case was designed for introductory courses in biology and environmental sciences, taken by both science majors and non-science majors. In addition to introductory college classes, this case could also be used in advanced high school biology classes.

Sulston worked alone, in silence, hunched over a microscope for eight hours a day. By studying and drawing worms of various ages, he figured out the ancestor and descendants of each of their cells. It was a monumental piece of science. Sulston mapped the complete history of an individual, the comprehensive family tree of a single body. "We had the entire story of the worm's cells from fertilized egg to adult," he later said, upon accepting the Nobel Prize for his work.

This case study focuses on the relationship between evolution and plasticity using a hands-on, inquiry-based approach. Students view examples from the literature that illustrate the difference between nature and nurture, or the relative contributions of genes and the environment in shaping phenotypes. Using the Trinidadian guppy system as an example, students learn about seminal work in the field in addition to exploring quantitative genetic techniques used to partition phenotypic variance between genes (G) and the environment (E). They use real data from one of the publications cited in the case to graph reaction norms illustrating GxE interactions at the family and population level. The inquiry-based approach means that students are introduced to new concepts in a stepwise fashion, and asked to develop and build their understanding using causal, explanatory evidence. The case concludes with an exercise in which students apply their knowledge to a real conservation problem in Trinidad and Tobago, where guppies are native. This case would be appropriate for an upper level biology, genetics, or evolution course.

Parkinson's is a result of the loss of cells in various parts of the brain, including one portion that produces the neurotransmitter dopamine. Dopamine is essential for being able to move in a coordinated way, so the loss of dopamine causes the tremors often associated with the condition. While the exact cause of Parkinson's is unknown, genetics and environment are contributing factors. Most cases occur in patients with no family history of Parkinson's disease, but there are 13 gene mutations that have been linked to either causing the disease or increasing one's risk of developing it. Certainly not everyone who carries these gene mutations develops Parkinson's, but identifying these genetic indicators is the beginning of developing more precise treatments.

Explore the diversity and evolution of birds with this web interactive based on the Wall of Birds mural. Envisioned by Cornell Lab ornithologists and realized by artist Jane Kim, the large-scale mural features species from all surviving bird families alongside a select group of extinct ancestors.

In this case, developed for an introductory genetics class, students meet a woman whose family has a history of colon cancer. Students create a pedigree based on information from the case and discuss what it means to be genetically predisposed to cancer. Using bioinformatics tools from the NCBI database, students identify and examine the mutation in the woman's APC gene that results in genetic predisposition to colon cancer. Finally, they investigate the biological function of the APC protein to understand why this mutation contributes to the development of cancer and determine whether APC is a proto-oncogene, tumor suppressor gene, or genome stability gene.

In recent years, Claverie and his colleagues have discovered a host of giant viruses, which are as big as bacteria but lack characteristic cellular machinery and metabolism of those microorganisms. At least one family of these viruses likely evolved from single-celled parasites after losing essential genes, although the origins of other giant viruses remain a mystery, Claverie said.

Story of Aiden's Law, new genetic disorder that newborns in NY will be screened for.

An elderly woman living independently with some help from her family is brought to the local emergency room because she is confused and vomiting. While her son suspects a stroke, a quick battery of laboratory tests indicates that her current problems are the result of impaired kidney function, an old-fashioned home remedy for ulcers, and her prescribed blood pressure medication. The combination of patient- and drug-related factors produces an acid-base disorder responsible for her confusion. This disorder further disrupts her kidney function. The case illustrates secretion and reabsorption processes in the kidney tubule which regulate plasma and urinary electrolytes (including calcium) and pH. The role of bicarbonate in maintaining systemic pH is emphasized. Interactions among the renal, respiratory and nervous systems in the regulation of systemic pH are also illustrated. Further, basic principles of pharmacotherapy and issues related to the appropriate use of medications are introduced. The case was developed for use in a physiology or human anatomy and physiology course, but it might be used in undergraduate nursing courses as well (e.g., pharmacology, pathophysiology).

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.