Group items tagged

Possibly the most exciting use of stem cells rests on their ability to differentiate into an enormous range of healthy functioning adult cells, thereby providing a replacement source of cells to treat serious diseases. This ultimately means that virtually any disease that results in cellular and tissue destruction can potentially be treated by stem cells. Some of the conditions are particularly debilitating and these include diabetes, spinal cord injuries, retinal disease, Parkinson's disease, heart disease and cancer.

Human and animal disease are often caused by viruses or bacteria. Over the past two hundred or so years, vaccines have eradicated some of these diseases. Others have returned to haunt humans with new and ever-mutating strains. Communicable diseases may spread in different ways: through blood, air, feces/urine, food, or water. The World Health Organization (WHO) and the Center for Disease Control (CDC) keep constant watch over the most potentially dangerous diseases and the most likely threats to various world populations.

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

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.

Welcome to Your Disease Risk, the source on prevention. Here, you can find out your risk of developing five of the most important diseases in the United States and get personalized tips for preventing them. Developed over the past ten years by world-renowned experts, Your Disease Risk collects the latest scientific evidence on disease risk factors into one easy-to-use tool.

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.

Lyme disease, Ebola and malaria all developed in animals before making the leap to infect humans. Predicting when such a 'zoonotic' disease will spark an outbreak remains difficult, but a new study suggests that artificial intelligence could give these efforts a boost. A computer model that incorporates machine learning can pinpoint, with 90% accuracy, rodent species that are known to harbour pathogens that can spread to humans, researchers report this week in the Proceedings of the National Academy of Sciences1. The model also identified more than 150 species that are likely to be disease reservoirs but have yet to be confirmed as such.

This case study introduces students to the structure and function of cellular organelles and seeks to show their importance by discussing diseases and disorders that can result when an organelle does not function as it should. The storyline follows a family whose joy at bringing home a new baby is soon altered by their child's sudden illness, which is eventually diagnosed as Leigh Disease. This disease occurs when defective mitochondria fail to produce energy needed by the cell, particularly affecting cells with high-energy needs like those in the brain, muscle, and gastrointestinal tract. The narrative also discusses some of the ways in which Leigh disease is inherited, treatment options, and the typical prognosis. The case was designed for an introductory non-majors biology course, but could also be used in other science or health related courses. Instructors also have the option of running the case in a "flipped classroom" in which students watch three recommended videos outside of class as a way of preparing for working on the case in class.

This case study is designed to teach basic concepts of genetics by focusing on a rare disease, pseudoxanthoma elasticum (PXE).  Chromosome 16 is the narrator at the beginning of the case and introduces students to genes, chromosomes and mutations. The focus then shifts to the patient and his mother as she finds out about her son's disease and her subsequent efforts to connect with patient advocacy groups for support. The case concludes with students watching a TED talk given by Sharon Terry, the real-life mother on whom this story is loosely based, so that students can connect on an emotional and human level with someone who has intimate experience as a parent of children with a rare genetic disease. The case is suitable for high school general biology classes, but it can also be used by biology major or non-major undergraduates in a lower-division biology class, or in any lower-division non-major class focused on human disease.

In the wake of a potential global crisis we will investigate the biology of infectious diseases to better understand how they transmit, replicate and induce an immune response in humans. Our objective is to pose solutions to the Ebola outbreak in the United States by studying other infectious diseases. We will investigate infectious diseases and the development of vaccines to show how they have changed the course of human health and populations as a whole. We will determine public perceptions about infectious diseases and identify misconceptions. Ultimately, we will develop community awareness information to manage and in future prevent an outbreak of Ebola.

In this case study students are provided with information for piecing together the story of how forest fragmentation and biodiversity loss can affect the risk of Lyme disease transmission to humans. The case introduces the dilution effect, a widely accepted theory-and one of the most important ideas in disease ecology-which suggests that disease risk for humans decreases as the diversity of species in an area increases. It also explains how landscape fragmentation, one of the most common threats to biodiversity, can influence the risk of Lyme disease for humans. Students interpret and discuss various figures to develop a concept map that connects all the individual results of the story. Students gain an appreciation for the complexity of species interactions in an ecosystem, the effects of forest fragmentation on these interactions and the possible consequences for human health. This activity was developed for an undergraduate introduction to environmental sciences course under the topic of biodiversity and conservation, but would also be suitable for interdisciplinary studies interested in examining the connections between conservation and public health.

Genetic studies of human disease are more challenging to perform in sub-Saharan Africa because genetic diversity is greater than in other populations. This pilot will increase our understanding of African genome variation and enable the design of large-scale genetic association studies in the region. Studies into the genetic basis of disease in European populations have made major advances in the past few years, yet similar studies in sub-Saharan Africa have been slower to develop. The high level of genetic diversity that exists in populations from sub-Saharan Africa makes genetic associations with disease more difficult to identify. The African Genome Variation Project aims to collect essential information about the structure of African genomes to provide a basic framework for genetic disease studies in Africa.

This case study centers on an active teaching game that simulates a cholera outbreak among five villages along a river, similar to the Haitian outbreak of 2010. By enacting the behaviors of fictional villagers, students learn how trade, travel, sanitation practices and geographic location contribute to the spread of diarrheal disease. Documenting various contamination events of village water supplies allows students to trace the progression of the disease and illustrates how adequate sanitation facilities provide protection against the bacteria Vibrio cholera. Originally designed for an undergraduate upper-division biology course focusing on the epidemiology of diseases, the simulation is also appropriate for microbiology and public health courses, as well as lower division undergraduate biology courses and high school. Biology or epidemiology components of the case study can be highlighted depending on the emphasis of the course being taught. The game can be completed within a 45- to 60-minute class period. Playing cards are available from the Supplemental Materials tab; detailed instructions are found in the teaching notes.

Huntington disease is caused by a mutation in the HTT gene. Understanding how the mutation causes neurodegeneration might help researchers develop treatments that protect brain function. This animation describes the genetic defect that underlies Huntington disease. Created by the editors at Nature Reviews Disease Primers.

I'm a carrier of a Jewish genetic disease. With that, here's my journey, which will explain why I'm so passionate about advocating for JScreen-a national organization that focuses on education and screening for Jewish genetic diseases.

The world is becoming more urban every day, and the process has been ongoing since the industrial revolution in the 18th century. The United Nations now estimates that 3.9 billion people live in urban centres. The rapid influx of residents is however not universal and the developed countries are already urban, but the big rise in urban population in the next 30 years is expected to be in Asia and Africa. Urbanization leads to many challenges for global health and the epidemiology of infectious diseases. New megacities can be incubators for new epidemics, and zoonotic diseases can spread in a more rapid manner and become worldwide threats. Adequate city planning and surveillance can be powerful tools to improve the global health and decrease the burden of communicable diseases.

In a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals' long-term electronic health record (EHR) data. The effort, by researchers at the Geisinger Health System in Pennsylvania and Regeneron Genetics Center, a subsidiary of New York-based Regeneron Pharmaceuticals, has yielded novel disease-linked variants, including loss-of-function alleles. The team behind the project, called DiscovEHR, has also found that about one in 30 of the individuals harbors a deleterious genetic variant for which a screen or treatment already exists. The group's analysis is described in two papers published today (December 22) in Science.

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.

This lab will let you explore various diseases: Kold, a caricature of the common cold; Impfluenza, which resembles influenza; Neasles, with the high transmission rate of measles; and Red Death, a fast-spreading epidemic with a high mortality rate. What factors come into play in the spread of these diseases? And what can we do to counter them?

Global Genes is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates and clinical partners. Our mission is to eliminate the challenges of rare disease.