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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.

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.

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.

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 National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service

As the leader of a project called Finding of Rare Disease Genes (FORGE) in Canada, Kym Boycott is one of the top experts in the world in the application of exome sequencing to solve rare disorders. The Canadian project involves a network of doctors and scientists all across the country looking to identify patients with rare childhood conditions and refer them when appropriate for sequencing and analysis.

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.

For the second time in four months, researchers have reported autopsy results that suggest Alzheimer's disease might occasionally be transmitted to people during certain medical treatments-although scientists say that neither set of findings is conclusive. The latest autopsies, described in the Swiss Medical Weekly on January 26, were conducted on the brains of seven people who died of the rare, brain-wasting Creutzfeldt-Jakob disease (CJD). Decades before their deaths, the individuals had all received surgical grafts of dura mater-the membrane that covers the brain and spinal cord. These grafts had been prepared from human cadavers and were contaminated with the prion protein that causes CJD.

Scientists and healthcare professionals initially exhibited little concern over the Zika virus even after evidence of human infection was first identified in 1952; Zika appeared to be both rare and unassociated with morbidity or mortality. Around 2015 all of this changed as journalists, scientists, public health officials, and laypeople scrambled to learn about its varied modes of transmission and devastating consequences (e.g., birth defects and autoimmune disorders). Although research continues to rapidly evolve, this case study directs students to reliable scientific sources (e.g., Centers for Disease Control and World Health Organization) that will likely continue to provide the most current information in order to explore questions such as: Where did the virus come from? How does it spread? What can we do to prevent it? Students will also consider the public health challenges and possible solutions associated with emerging infectious diseases. The case was originally written for an upper-level biology or public health course in which students already have some basic background knowledge regarding viruses, vaccines, and infectious disease.

The scientists are from the Centers for Disease Control and Prevention, and they have embarked on this watery journey to solve a decades-old mystery about a rare and fatal disease: monkeypox. A cousin to the deadly smallpox virus, the monkeypox virus initially infects people through contact with wild animals and can then spread from person to person. The disease produces fever and a rash that often turns into painful lesions that can feel like cigarette burns. It kills up to 1 in 10 of its victims, similar to pneumonic plague, and is particularly dangerous in children. Monkeypox is on the U.S. government list of pathogens such as anthrax and Ebola with the greatest potential to threaten human health. There is no cure.

start at 4:00 human genome project translation target rare diseases with gene therapy: 1)Leber's congenital amaurosis- blindness 2) congenitaal AADC deficiency- enzyme responsible for movement 3)  Muscular Dystrophy- Pompe Disease

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.

After the third time he nearly died but before the fourth, David Fajgenbaum embraced a new motto: Think it, do it. "I got out of the hospital with this profound sense of, you need to make the most of every second," he says. A former college football player with close-cropped dark hair and a firm handshake, Fajgenbaum, 31, is the picture of youthful vigor now. But that belies a frightening reality. Tomorrow the symptoms with which he's all too familiar could return, sending him to the intensive care unit (ICU) with every organ failing. 

Unexpected discoveries in the quest to cure an extraordinary skeletal condition show how medically relevant rare diseases can be.

GlaxoSmithKline has developed what looks like a cure for a rare and deadly disease, and it's going to cost $665,000 for a single dose. That sky-high price tag-more than twice the average price of a house-is likely to stir what's already a long-simmering debate in health care: How much should curative therapies cost, and how should society pay for them?

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.

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.

This interrupted case study for the flipped classroom applies evolutionary genetics research to human health. Students learn about a naturally occurring, but rare, allele of the CCR5 gene, CCR5-Δ32, which provides resistance to HIV. They use data from primary literature sources to predict and interpret worldwide patterns of CCR5-Δ32 frequency distribution. They then discuss how these allele frequency patterns may have been driven by selection imposed by various diseases or by other evolutionary mechanisms. Next, they test published data using Hardy-Weinberg equilibrium to examine if CCR5-Δ32 also provides genetic resistance to West Nile virus. Finally, they complete a jigsaw discussion of Nature News articles that report on how CCR5 research is being used to develop therapies to treat HIV. Originally written for the evolution portion of a yearlong biology series for undergraduate majors, the case is also appropriate for some non-majors biology courses or, with added complexity, upper-level evolution, genetics, or cell biology courses.

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.

A soft brush that feels like prickly thorns. A vibrating tuning fork that produces no vibration. Not being able to tell which direction body joints are moving without looking at them. Those are some of the bizarre sensations reported by a 9-year-old girl and 19-year-old woman in a new study. The duo, researchers say, shares an extremely rare genetic mutation that may shed light on a so-called "sixth sense" in humans: proprioception, or the body's awareness of where it is in space. The new work may even explain why some of us are klutzier than others.