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Hyper-IgM syndrome is an X-linked genetic disorder more commonly affecting males than females. It is caused by the lack of heavy chain class-switching from IgM to other isotypes. Patients with hyper-IgM syndrome are susceptible to a variety of infections as demonstrated in this medical case study. Students are presented patient information, symptoms and a diagnosis that must be interpreted. The case was written for use with the team-based learning (TBL) format involving groups of 4-5 students per group, but it could also be completed as an individual project. The case is targeted to premedical/allied health advanced students and is appropriate for any immunology course at the undergraduate or graduate level in a biomedical science program, or health-related professional courses such as advanced physiology, pathophysiology, microbiology, or histology and cytology.

New research strengthens a potential strategy for treating fragile X syndrome, the most common inherited form of intellectual disability.

[ February 17, 2008 ] People who lack a certain large segment of DNA have a previously unrecognized syndrome characterized by mental retardation, seizures, and slight physical abnormalities, according to a genetic analysis conducted by HHMI investigator Evan E. Eichler at the University of Washington School of Medicine and a team of international collaborators. The deleted DNA segment is responsible for just a small percentage of cases of mental retardation, but "when you think about how common mental retardation is," Eichler says, "this deletion has a significant impact on human health."

"This modular case study tells the story of Dan and Annie, a married couple of Acadian ancestry who have a genetic form of deafblindness called Usher syndrome. They live in Southwest Louisiana, home of the largest population of DeafBlind citizens in the United States. Acadian Usher syndrome is caused by an allele of the USH1C gene that came to Louisiana with the first Acadian settlers from Canada who founded today's Cajun population. This allele's single nucleotide substitution creates an erroneous splice site that produces a defective cytoskeletal protein (harmonin) of the cochlear and vestibular hair cells and retinal photoreceptors. This splice site is the target of a promising gene therapy. The case study applies and connects Mendelian inheritance, chromosomes, cell division, vision and hearing, DNA sequences, gene expression, gene therapy and population genetics to a specific gene and its movement through generations of Dan and Annie's families.  After the introduction, each of the remaining sections can be used independently either for in-class team activities or out-of-class extensions or assignments over an entire year of introductory undergraduate biology. "

This activity guides the analysis of a published scientific figure from a study that modeled the impact of an infectious fungal disease on a bat population. In 2006, a disease called white-nose syndrome (WNS) began wiping out bat populations in North America. Because many of these bats eat insect pests, the spread of WNS may devastate ecosystems and increase pest control costs. In this study, scientists mathematically modeled the effects of WNS to estimate extinction probabilities for the little brown bat (Myotis lucifugus) population in the northeastern United States. This figure shows these probabilities projected for five annual rates of population decline. Each projection is simulated up to 100 years after WNS emerged in the population. The "Educator Materials" document includes a captioned figure, background information, graph interpretation, and discussion questions. The "Student Handout" includes a captioned figure and background information.

A simple animation explaining what Turner Syndrome is, how it is caused, the symptoms, and how it is diagnosed and treated. We hope this video will be useful to you and those around you.

After coming down with a stomach virus, Luther Glenn became paralyzed. He was diagnosed with Guillain-Barre syndrome, a neurological disorder that can leave people paralyzed for weeks. According to researchers, about 80 percent of people who come down with Guillain-Barre will recover almost fully, while the rest never regain their abilities. Luther is one of those still dealing with the effects of the condition.

Some tiny clusters of brain cells grown in a lab dish are making big news at this week's Society for Neuroscience meeting in San Diego. Known as "minibrains," these rudimentary networks of cells are small enough to fit on the head of a pin, but already are providing researchers with insights into everything from early brain development to Down syndrome, Alzheimer's and Zika.

This directed case study examines differences between the exponential and logistic growth models in biology and how they are applied to solve real life problems. The narrative follows a student returning to the United States as he tries to assess his possible exposure to Middle East Respiratory Syndrome (MERS). To better understand his risk, James needs to get up to speed on a variety of topics including the difference between infection, transmission, virulence, etc., and how these topics can be mathematically modeled not only in relation to MERS, but also with respect to Ebola and influenza. This case was designed for use in the second semester of a biocalculus course or a course involving ordinary differential equations, which are appropriate for second year undergraduate students majoring in biology, pre-med, and bio-mathematics. These students typically have completed a semester of calculus and one year of general biology. The case provides an opportunity for students to develop their understanding of differential equations and increase their appreciation of mathematics as it applies to solving a problem of biology.

TED-Ed with supporting lesson materials through cpalms.org resource site.  Text links include cell cycle, immune system response to cancer, and Laron's syndrome dwarfism which has low incidences of cancer and diabetes.

Lesson with comprehensive links to genetic disorders

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.

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.

"Millions of people who suffer from less-intense sleep problems do suffer myriad health burdens. In addition to emotional distress and cognitive impairments, these can include high blood pressure, obesity, and metabolic syndrome. And recent research has suggested even mild sleep loss, the kind people often subject themselves to during the work week by watching late-night TV until midnight then rising before dawn, may lead to metabolic, cardiovascular, cognitive, and neurologic dysfunction."

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.

Lesson plans from a 5 day summer workshop through the CDC

First, surgeons remove the uterus and part of the vagina from the donor - in this case, one who was deceased, since it is a risky surgery that involves separating uterine blood vessels that are tightly wrapped around the tubes from the bladder. Next, the uterus is transferred to the living recipient. Surgeons connect an artery and a vein on either side of the uterus to connect it to the recipient's blood supply. A piece of the donor's vaginal tissue is attached to the recipient's vagina, and supporting tissue is attached to the pelvis to secure the organ in place. It's not necessary to connect any nerves.

2:00 video It's not the Y chromosome itself that determines whether a baby is male or female, but rather a particular region called the SRY gene.