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The Path to Myozyme Beginning in the 1960s and fueled by the biotechnology revolution in 1980s, researchers at academic centers around the world initiated work to identify a treatment for Pompe - including therapies that could replace the missing GAA enzyme in patients. Based on these early efforts, from 1998-2002 Genzyme worked to advance promising research involving four different drug candidates to treat Pompe:

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.

Naked mole rats are hairless, blind, underground dwellers that are remarkably impervious to cancer. But why you ask? Well, researchers at the University of Rochester asked that same question and it turns out a cluster of genes, called the INK4 locus, is the answer. This locus, also found in humans and mice, uses that cluster to carry instructions, or encode, for several cancer fighting proteins.

Over a million people in the United States have some form of Inflammatory Bowel Disease or IBD. It can be caused by intestinal bacteria, environment or genetics. One thing is for sure, the lining of the intestines don't work correctly because the cells have been disturbed by one of these things. A common finding in Crohn's and IBD is that a molecule called TNF is elevated, and starts the inflammation process. Researchers still don't know what signals the TNF to go up, but maybe they can turn it off with another molecule.

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

When a person dies from cancer, the culprit is usually not the original tumor but rather the cancerous cells that spread throughout the body and replicate in distant organs, a process called metastasis. Researchers have long known that metastasizing cancer cells slip their bonds and avoid immune detection by altering the sugars on their surfaces. They've even come up with a would-be drug to prevent such sugar alterations. But that compound interferes with needed sugars on normal cells, too, with lethal results in animals. Now, Dutch researchers report that they've packaged the drug in nanoparticles targeted exclusively to cancer cells, and they've shown that this combination prevents cancer cells from metastasizing in mice.  

On June 14, 2013, the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th anniversary of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - in April 2003. The exhibition is a collaboration between the Smithsonian's National Museum of Natural History (NMNH) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.

Protein folding and trafficking is essential for normal cell function, and when it goes awry it can lead to various chronic conditions, including fatty liver disease, diabetes, and Parkinson's. The narrative of this case study follows two undergraduate students engaged in a summer research project evaluating the effects of cell stress on cell function and health in the model organism Caenorhabditis elegans (C. elegans).  During the case study, students review animal cell organelle function and then learn about endoplasmic stress and unfolded protein response. Prior knowledge needed for the case is basic animal cell organelles and their functions and use of model organisms in research. The case was designed for a flipped classroom in which students prepare in advance by taking a quiz and watching two videos; a PowerPoint animation is also included.

A new study by Duke University researchers helps clarify the matter by showing how a sugar habit changes specific brain circuits, and how those changes produce cravings that reinforce the habit. The research team began by getting a group of healthy mice hooked on sugar. Similar to classic studies on drug addiction, the mice in this study were trained to press a tiny lever to receive doses of sweets. Once the mice were hooked, they continued pressing the lever even when the sweets were removed. So that was step one, establishing a behavioral pattern to get the goods.

 For my research project with the USHMM, I focused on the ethical and moral deficiencies exhibited and practiced by scientists, doctors, nurses, and anthropologists during the Holocaust. As part of that research, I also focused on the American Eugenics movement,and specifically what happened in North Carolina.       The website contains videos, testimonies, articles, timelines, and specific activities associated with the specific Nazi plans of euthanasia through extermination. There is also a site that deals specifically with American and NC eugenics.

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.

Scientists work with animal models to better understand type 2 diabetes to treat the disease. They have developed specialized animal models that mimic the condition.  One line of mice, known as KK mice, develop obesity and glucose intolerance that lead to type 2 diabetes. Another rodent model, the Zucker diabetic fatty rat, is bred to be a precise model of human type 2 diabetes.

Research has revealed striking differences in the trillions of bacteria - a.k.a., the microbiome - in the intestines of children with and without autism. But the gut bacteria in individuals with autism aren't just different. Researchers at the California Institute of Technology have shown for the first time that they may actually contribute to the disorder. They reported in the journal Cell in December 2013 that an experimental probiotic therapy alleviated autism-like behaviors in mice and are already planning a clinical trial.

Technical details aside, Crispr-Cas9 makes it easy, cheap, and fast to move genes around-any genes, in any living thing, from bacteria to people. "These are monumental moments in the history of biomedical research," Baltimore says. "They don't happen every day." Using the three-year-old technique, researchers have already reversed mutations that cause blindness, stopped cancer cells from multiplying, and made cells impervious to the virus that causes AIDS. Agronomists have rendered wheat invulnerable to killer fungi like powdery mildew, hinting at engineered staple crops that can feed a population of 9 billion on an ever-warmer planet. Bioengineers have used Crispr to alter the DNA of yeast so that it consumes plant matter and excretes ethanol, promising an end to reliance on petrochemicals. Startups devoted to Crispr have launched. International pharmaceutical and agricultural companies have spun up Crispr R&D. Two of the most powerful universities in the US are engaged in a vicious war over the basic patent.

More than 400 scientists, bioethicists, and historians from 20 countries on 6 continents have gathered this week in Washington, DC, for the Human Gene Editing Summit. The attendees are a veritable who's who of genome editing: Jennifer Doudna of the University of California, Berkeley, Emmanuelle Charpentier of Max Planck Institute for Infection Biology, and Feng Zhang of the Broad Institute of MIT and Harvard-the three discoverers of the CRISPR-Cas9 system's utility in gene editing-plus dozens of other big names in genome science. Cal Tech's David Baltimore along with the heads of the four national societies hosting the meeting (US National Academy of Sciences, US National Academy of Medicine, Chinese Academy of Sciences, and the U.K.'s Royal Society) provided opening remarks on Tuesday (December 1). And as I sat stage right in the NAS auditorium, I noticed the unmistakable rear profile of Harvard Medical School's George Church three rows in front of me. Church was scheduled to speak at a session later that afternoon about the application of CRISPR and other new precision gene editing techniques to the human germline-a hot-button topic since April, when a Chinese group published it had successfully modified the genomes of human embryos, and the National Institutes of Health (NIH) said it would not fund such research. Then in September, the U.S./U.K.-based Hinxton Group, an international consortium of scientists, policy experts, and bioethicists, said it supported the use of genetic editing in human embryos for limited applications in research and medicine.  

Gut microbes-the collection of bacteria and other organisms that inhabit our intestines-have been shown to play a role in a wide variety of conditions from asthma to obesity. But researchers still don't know precisely how they contribute to obesity. To gain a better understanding, a team led by physiologist Mirko Trajkovski from the University of Geneva in Switzerland has been following up on any leads he can to learn about the link between these microbes and metabolism. Trajkovski knew from past research that getting rid of some gut bacteria in mice makes them less able to maintain their internal body temperature in the cold. He wondered whether there might be a connection between gut microbes, external temperature, and weight control.

This animation depicts the CRISPR-Cas9 method for genome editing - a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease. Feng Zhang, a leader in the development of this technology, is a faculty member at MIT, an investigator at the McGovern Institute for Brain Research, and a core member of the Broad Institute. Further information can be found on Prof. Zhang's website at http://zlab.mit.edu .

Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs) and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a "risk" allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders.

Hear from some of the country's leading scientists and medical experts who talk about why animal research is critical for medical progress and the advancement of both human and animal health.

The researchers, Eicke Latz at the University of Bonn and colleagues, followed up on the parents' hypothesis and found that in mice, cyclodextrin indeed blocked plaque formation, melted away plaques that had already formed in arteries, reduced atherosclerosis-associated inflammation, and revved up cholesterol metabolism-even in rodents fed cholesterol-rich diets. In petri dish-based tests, the researchers found that the drug seemed to have the same effects on human cells and plaques.