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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.

In this directed case study students follow a nurse practitioner and work with a diagnostics team to determine what is wrong with Tristan, an infant who comes to the clinic with multiple bruises. Students are given background and patient history, and are then given results of various blood tests ordered by the diagnostics team. The exercise emphasizes the physiological process of coagulation and the importance of various clotting factors, especially factor VIII. Students will be introduced to results from several blood tests, including: complete blood count, partial thromboplastin time, prothrombin time, metabolic panel, and factor VIII assay. The patient is ultimately diagnosed with severe hemophilia A and the case then introduces students to this disorder, the genetic determinants, the incidence, and ways to manage the disease. The data in this case are real and the story represents the medical history of an actual patient. Originally developed for pre-nursing students, this activity would also be suitable for majors in physiology or pre-medical students; it could also be used in an introductory genetics or biology course.

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.

Despite clinical and experimental evidence implicating the intestinal microbiota in a number of brain disorders, its impact on Alzheimer's disease is not known.

Scientists announced Monday that they had created mice with small amounts of human brain cells in an effort to make realistic models of neurological disorders such as Parkinson's disease.

Genes to Cognition (G2C) Online is about modern neuroscience. It focuses on cognitive disorders, cognitive processes, and research approaches. Use the dynamic network maps to explore our library of 750+ unique items. Or, use the linear Selected Items menu on top of each map to tour selected content.  Explore, interact, and have fun! 

Researchers have for the first time used electrical pulses delivered from a cochlear implant to deliver gene therapy, thereby successfully regrowing auditory nerves. The research also heralds a possible new way of treating a range of neurological disorders, including Parkinson's disease, and psychiatric conditions such as depression through this novel way of delivering gene therapy.

Using a patient's own stem cells, researchers have corrected the genetic alteration that causes sickle cell disease, a painful, disabling inherited blood disorder that affects mostly African-Americans. The corrected stem cells were coaxed into immature red blood cells in a test tube that then turned on a normal version of the gene

Chinese scientists say they've genetically modified human embryos for the very first time. The team attempted to modify the gene responsible for beta-thalassaemia, a potentially fatal blood disorder, using a gene-editing technique known as CRISPR/Cas9. Gene editing is a recently developed type of genetic engineering in which DNA is inserted, replaced, or removed. Here, experts weigh-in with ethical questions and considerations.

Importance  Despite research showing no link between the measles-mumps-rubella (MMR) vaccine and autism spectrum disorders (ASD), beliefs that the vaccine causes autism persist, leading to lower vaccination levels. Parents who already have a child with ASD may be especially wary of vaccinations. Objective  To report ASD occurrence by MMR vaccine status in a large sample of US children who have older siblings with and without ASD.

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.

Published today (17:00BST, 03/06/2015) in the journal Neuron, their work presents strong evidence that disruption of a delicate chemical balance in the brain is heavily implicated in the disorder. In the largest ever study of its kind, the team found that disease-linked mutations disrupt specific sets of genes contributing to excitatory and inhibitory signalling, the balance of which plays a crucial role in healthy brain development and function.

Lesson with comprehensive links to genetic disorders

Research will make the study of diseases such as Parkinson's and Alzheimer's easier, and could lead to personalized therapies for a variety of neurodegenerative disorders. The nerve cells generated by this new method show the same functional characteristics as the mature cells found in the body, making them much better models for the study of age-related diseases such as Parkinson's and Alzheimer's, and for the testing of new drugs.

Dogs are excellent models for studying genetics, especially disease genetics. Work done in the last 20 years has shown that dogs share many gene-related disorders with people. Each breed is a closed reproductive population with distinct rates of heritable diseases, which dramatically increases the odds of finding disease-related loci. In creating new dog breeds, we reduce the gene pool within those populations, and fix many alleles. This homogeneous background makes it much easier to map QTLs and perform linkage analyses

The physical connection between mother and fetus is provided by the placenta, an organ, built of cells from both the mother and fetus, which serves as a conduit for the exchange of nutrients, gasses, and wastes. Cells may migrate through the placenta between the mother and the fetus, taking up residence in many organs of the body including the lung, thyroid, muscle, liver, heart, kidney and skin. These may have a broad range of impacts, from tissue repair and cancer prevention to sparking immune disorders.

Fascinating narrative science that explores the next frontier in medicine and genetics through the very personal prism of the children and families gene therapy has touched. Eight-year-old Corey Haas was nearly blind from a hereditary disorder when his sight was restored through a delicate procedure that made medical history.  Like something from a science fiction novel, doctors carefully introduced viruses bearing healing genes into Corey's eyes-a few days later, Corey could see, his sight restored by gene therapy.

Stories of families with newborn screening disorders

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.

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.