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Genetic research is leading to the development of more genetic tests that can be used for the diagnosis of genetic conditions. Genetic testing is available for infants, children, and adults. Genetic tests can be used to diagnose a disease in an individual with symptoms and to help measure risk of developing a disease. Adults can undergo preconception testing before deciding to become pregnant, and prenatal testing can be performed during a pregnancy. Results of genetic tests can help physicians select appropriate treatments for their patients.

She says people became much more willing to talk about their genetic predispositions and seek out testing for conditions like Alzheimer's disease and cystic fibrosis. The number of patients seeking genetic counseling and testing has increased dramatically, according to a 2014 study that looked at how Jolie's announcement affected interest in testing. But the number of genetic counselors, the people who help both doctors and patients make sense of these tests, hasn't expanded enough to keep up with that demand. There are just 4,000 certified genetic counselors in the country today. That's one for every 80,000 Americans.

After her two children were diagnosed with a rare genetic condition, Sharon Terry dedicated her life to creating systems-level solutions that will alleviate burdens for consumers and build opportunities for them to be empowered in their own health care. She is the CEO of Genetic Alliance, an international non-profit organization, now in its 25th year, that is the world's largest network of health related organizations working from a consumer perspective. Genetic Alliance builds capacity within the genetics and health community by forging novel partnerships, promoting informed decision-making, and sharing individual, family, and community perspectives.

This directed case study follows the story of "Pauline," a 20-year-old college student who has just received results from a personal genetic testing kit she purchased online. The report shows a negative result for variants of the BRCA 1 and 2 genes, which are associated with a greater risk for breast cancer. Although Pauline has a family history of breast cancer, she concludes that she no longer needs to be concerned, or does she? As students work through the questions in this case study, they review the role of genes and how they code for proteins as well as the effects of proteins on health, especially on cellular growth regulation and cancer. They also learn about the process of genetic testing and consider the ramifications of positive and negative tests for diseases or health conditions, especially with respect to breast cancer. The case is designed for non-science majors in a scientific methods course and could also be used in an introductory biology course. The questions in the case could be adapted for an upper level genetics class.

Genetic tests are now available to look for specific heritable diseases like Huntington's, assess your risk of developing conditions like heart disease, and more. Learn about four different types of genetic testing and take our poll. Would you take these tests yourself?

This video excerpt from NOVA uncovers the genetic mystery that nearly killed Alexis, now 14, and introduces the debate surrounding genetic testing at birth. After diagnosing Alexis and her twin brother Noah with cerebral palsy at a young age, doctors later discovered that the twins shared a rare genetic mutation that led to a condition that mimics cerebral palsy. The twins improved after receiving treatment, but then Alexis took a turn for the worse. Thanks to whole genome sequencing, doctors discovered a second problem linked to the mutation and gave her a different treatment that saved her life.

Jackson would eventually be diagnosed with the rare genetic eye disease Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV), which eventually causes blindness in those who carry the gene.

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.

Researchers led by Terra D. Barnes of Washington University discovered that their genetically-engineered mice stutter due to DNA defects in a humdrum "housekeeping" gene. This gene codes for a protein that simply places a "routing tag" on certain enzymes that shred cellular trash. The tag ensures that the shredding enzymes end up in chambers called lysosomes, basically the cell's garbage disposal. It's a mundane cellular activity, yet mutations in the same process in humans have also been linked to stuttering-a bizarrely specific condition for such a general gene. And, so far, scientists have no idea why the two are linked.

This case study presents the story of Phil, an undergraduate majoring in biology, whose Russian cousin Dimitri has contracted tuberculosis (TB) from inmates at the prison where he works.  Phil learns that his cousin's failure to complete his antibiotic regimen likely contributed to the evolution of antibiotic-resistant TB in his body.  Phil consults with his friend Stacy, and together they try to understand Dimitri's condition by applying what they are learning in their genetics lab experiment about the role of random mutation in bacterial evolution (including the development of antibiotic resistance) through Luria- Delbrück fluctuation analysis. The same analysis includes calculation of the mutation rate, which Phil realizes is sufficient to cause MRSA and other antibiotic-resistant infections. This case study was originally developed for concurrent use in freshman/sophomore-level genetics, elementary statistics, and precalculus. However, it is also very appropriate for courses in introductory biology, evolutionary biology, and biostatistics. The teaching notes discuss various ways to run the case depending on the mathematics and biology background of students.

Variety of lesson resources

Learn to use Online Mendelian Inheritance in Man®, or OMIM®, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.

Researchers in a new study at the University of Edinburgh have honed in on five of 89 independent variations in human genetics that are believed to be responsible for autoimmune conditions, from celiac disease and multiple sclerosis to rheumatoid arthritis and asthma. Understanding how these mechanisms work could help scientists to develop new treatments. The team found that a mutation in the ADAR1 gene causes a defect in an "alarm system" in cells that normally protects the body from viruses and other infections by triggering the body's immune system to fight.

Why is the North American population of monarch butterflies declining? In 1999, a study published in the journal Nature suggested that a variety of genetically modified corn was killing these iconic butterflies. While it was later shown that the conditions in this study did not mirror those in the field, the results garnered a lot of media attention and many people today still believe that monarchs are being killed by GMOs. This case familiarizes students with the plight of the monarchs, encourages them to think about how to test the hypothesis that a toxin is responsible for their decline, and takes a critical look at several studies that investigated the role of Bt corn in the life cycle of monarchs. This interrupted case takes 60-90 min to complete, requires little to no science background, and can be used to explore the ecology and wildlife management of monarchs; risk assessment, toxicity, and exposure; experimental design, the scientific method, hypothesis, and critical thinking; or the relationship between science, the media and the public.

Sharmila Nikapota, the mother of a child with a rare genetic disorder, has high hopes for gene editing. "For us this technology holds the unimaginable dream of a cure," she says. Her 13-year-old daughter Sohana has spent her entire life covered in painful blisters, the result of a condition called recessive dystrophic epidermolysis bullosa.

Human example of incomplete dominance; myostatin-related hypertrophy.  Results in an overgrowth of muscle tissue.

Recombinant DNA technology for  human insulin AAT for emphysema GMOs for commercial value or simulate human conditions in animal models.

Around one in every 500-700 newborns has a condition that can be detected through newborn screening.  Site has screening resources

The Rare Disease Foundation is focussed on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focussed research projects from disease characterization to treatment with greater efficiency. By incorporating research, astute clinician observation and parental knowledge into the various stages of rare disease research we impact the speed of discovery and the way rare conditions are managed.

You might not think about your bones very often unless you break one. When you break a bone, the bone heals itself and begins to regrow. But, what if your muscles, tendons and ligaments turned to bone? What if you formed a second skeleton on top of the one you already have? That's what happens with Fibrodysplasia Ossificans Progressiva, or FOP.