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Because we want to understand what genes are required for blood vessel development, Courtney Griffin studies certain enzymes that help turn genes on and off. These enzymes are specifically involved in relaxing DNA that is normally tightly coiled up in our cells. Dr. Griffin is now an Assistant Member in the Cardiovascular Biology Research Program at the Oklahoma Medical Research Foundation after receiving her B.A. from Harvard University and her Ph. D. from the University of California San Francisco School of Medicine

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

This interactive case discussion was created to emphasize the clinical relevance of population genetics, but is also a suitable resource for teaching the basic principles of population genetics while relating them to human genetic variation. Our understanding of human genetic variation has deepened over the past decade due to fine-scale genome mapping. Applying this knowledge to the evaluation of ancestry-based genetic testing strategies, such as direct-to-consumer genetic testing, is an important component of the practice of culturally-competent medicine and a relevant way to teach the foundations of population genetics, including Hardy-Weinberg equilibrium.

Scientists at the University of California, San Diego School of Medicine have found that mutations that cause autism in children are connected to a pathway that regulates brain development.

In this lesson, students explore some of the risks and benefits of gene-based medicine. They look at concerns related to genetic testing (which looks for particular genetic variations) and personal genome sequencing (which sequences the entire genome of an individual). Through videos and discussions, students learn about existing technologies for genetic testing and therapies. They also explore matters such as the emotional consequences of genetic testing, discrimination, and privacy issues. In small groups, students discuss scenarios and then share and analyze related opinions and concerns.

In 2005, PLoS Medicine published a now-famous paper with the attention-grabbing but exasperating title, "Why Most Published Research Findings Are False".1 It was written by John Ioannidis, MD, PhD, an American doctor from Greece, a distinguished author of about 400 peer-reviewed papers, 40 books and book chapters or so, and much more. Ioannidis is a giant, and I am really nobody to criticize.

The site has been pared down to focus on that which is truly important: the work of students. You'll still find links for each of the individual classes in the main navigation. Those class indexes will contain the posts for that class, for this year and prior years. They may also include examples of exemplary student work or anything that I (Mr. Kite) think may be relevant to the course.

When scientists first made contact with an isolated village of Yanomami hunter-gatherers in the remote mountains of the Amazon jungle of Venezuela in 2009, they marveled at the chance to study the health of people who had never been exposed to Western medicine or diets. But much to their surprise, these Yanomami's gut bacteria have already evolved a diverse array of antibiotic-resistance genes, according to a new study, even though these mountain people had never ingested antibiotics or animals raised with drugs. The find suggests that microbes have long evolved the capability to fight toxins, including antibiotics, and that preventing drug resistance may be harder than scientists thought.

Germ theory states that specific microscopic organisms are the cause of specific diseases. The theory was developed, proved, and popularized in Europe and North America between about 1850 and 1920. Because its implications were so different from the centuries-old humoral theory, germ theory revolutionized the theory and practice of medicine and the understanding of disease. It was, however, compatible with existing ideas about health, especially those associated with 19th-century hygiene and sanitation.

"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."

4:34 video Right now, you are inhabited by trillions of microorganisms. Many of these bacteria are harmless (or even helpful!), but there are a few strains of 'super bacteria' that are pretty nasty -- and they're growing resistant to our antibiotics. Why is this happening? Kevin Wu details the evolution of this problem that presents a big challenge for the future of medicine.

More than 1,600 people worldwide have been infected with Middle East Respiratory Syndrome, or MERS, and complications from it have resulted in nearly 600 deaths. But in the three years since scientists identified the disease, they haven't been able to discover a way to treat or prevent infection. Now a team of international researchers has used genetically modified cows to create antibodies that combat the disease, which could mean that a vaccine might soon be possible. The research was published today in Science Translational Medicine.

This two-hour special, hosted by ABC "Nightline" correspondent Robert Krulwich, chronicles the fiercely competitive race to capture one of the biggest scientific prizes ever: the complete letter-by-letter sequence of genetic information that defines human life-the human genome. NOVA tells the story of the genome triumph and its profound implications for medicine and human health.

On September 15, the Washington University School of Medicine published a study in The American Journal of Psychiatry revealing that schizophrenia, commonly thought of as a single mental disorder, is actually a group of eight distinct afflictions. People with schizophrenia are typically diagnosed in their 20s, which is when symptoms (such as delusions and hallucinations) begin to manifest. The brain disorder affects about 1 percent of the population, and it is highly genetic: According to the NIH, having a relative diagnosed with schizophrenia increases one's chances of developing the disorder by 10 percent, while having an identical twin with the disorder raises the risk to 40 to 65 percent.

DNA is an interactive Web site where students can learn about DNA and its structure and function, the scientific history of its discovery and its development into a powerful tool in biology, technology, and medicine, and about the Human Genome Project, genetic engineering, and some of the implications and ethical issues surrounding genetic technology.

"Bioethics is the study of ethical, legal, and social issues raised by advances in biology and medicine. Bioethics addresses a range of controversial topics, including privacy and fairness in the use of genetic information, integration of new technologies, such as genetic testing, into medical practice, and the design and conduct of research studies and clinical trials.  "

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.

Now eight years old, USAID PREDICT is a collaborative effort to monitor, predict and prevent emerging diseases, many of them zoonotic, from becoming devastating global pandemics the likes of Ebola. It's led by Jonna Mazet, an epidemiologist at the University of California at Davis's One Health Institute and School of Veterinary Medicine, and also partners with the Wildlife Conservation Society, Metabiota, EcoHealth Alliance and the Smithsonian Institution's Global Health Program.

Behold the microscopic jungle in and around you: tiny organisms living on your cheeks, under your sofa and in the soil in your backyard. We have an adversarial relationship with these microbes -- we sanitize, exterminate and disinfect them -- but according to microbiologist Anne Madden, they're sources of new technologies and medicines waiting to be discovered. These microscopic alchemists aren't gross, Madden says -- they're the future.

Almost 80% of all antibiotics in the United States aren't taken by people. They're given to cows, pigs, and chickens to make them grow more quickly or as a cheap alternative to keeping them healthy. These drugs could give rise to superbugs-bacteria that can't be treated with modern medicine-and things are only getting worse. In 2013, more than 131,000 tons of antibiotics were used in food animals worldwide; by 2030, it will be more than 200,000 tons. In a paper published today in Science, epidemiologist Thomas Van Boeckel of the Swiss Federal Institute of Technology in Zurich and colleagues outline the growing threat-and what can be done about it. Boeckel spoke to us about his team's work. This interview has been edited for clarity and length.