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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.

On September 15, the Washington University School of Medicine published a study in The American Journal of Psychiatry revealing that schizophrenia, commonly thought of as a single mental disorder, is actually a group of eight distinct afflictions. People with schizophrenia are typically diagnosed in their 20s, which is when symptoms (such as delusions and hallucinations) begin to manifest. The brain disorder affects about 1 percent of the population, and it is highly genetic: According to the NIH, having a relative diagnosed with schizophrenia increases one's chances of developing the disorder by 10 percent, while having an identical twin with the disorder raises the risk to 40 to 65 percent.

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.

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

Site linking to summaries on a wide variety of genetic disorders.

The STAR-G Project has put together fact sheets about disorders commonly screened for by newborn screening. The fact sheets were written specifically for families that have received an initial diagnosis of one of the disorders and want to know more general information. They address issues and answer questions that are of particular concern to parents. Each fact sheet was written by a genetic counselor and reviewed by metabolic and genetic specialists.

Newborn genetic screening is a health program that identifies treatable genetic disorders in newborn infants. Early intervention to treat these disorders can eliminate or reduce symptoms that might otherwise cause a lifetime of disability.

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.

Story of Aiden's Law, new genetic disorder that newborns in NY will be screened for.

Similar to humans who have obsessive compulsive disorder, dogs exhibit compulsive behaviors, in which they might repetitively spin around, chase their tail, bark, chew, or suck on a toy or a part of their body for an excessive amount of time. In the latest study from Tufts University, researchers identified genetic pathways that increase the severity of canine compulsive disorders in Doberman pinschers. This discovery may lead to the development of improved treatments and therapies for obsessive compulsive disorder (OCD) in people. 

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.

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

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.

Engaging list of 10 human genetic disorders (minimal information of structural mutations)

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.

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.

Lesson with comprehensive links to genetic disorders

By early 2014, Flint, Kendler and a team of collaborators had analysed DNA sequences from 5,303 Chinese women with depression, and another 5,337 controls. As Flint expected, 85% of the depressed women had a severe form of the disorder called melancholia, which robs people of the ability to feel joy. "You can be a doting grandparent and your favourite grandchildren can show up at your door," says Douglas Levinson, a psychiatrist at Stanford University in California, "and you can't feel anything." The analysis yielded two genetic sequences that seemed to be linked to depression: one in a stretch of DNA that codes for an enzyme whose function is not fully understood, and the other next to the gene SIRT1, which is important for energy-producing cell structures called mitochondria. The correlations were confirmed in another set of more than 3,000 depressed men and women and over 3,000 controls.

"This case study introduces students to Duchenne muscular dystrophy (DMD) and its underlying genetics, cell biology, and some of the associated biochemical pathways.  DMD is an X-linked disorder characterized by progressive muscle weakness and wasting due to the absence of a protein called dystrophin, which in turn causes degeneration of skeletal and cardiac muscle. There is currently no established cure for this disease.  The case follows the progress of "Casey," an undergraduate student who has just declared her biology major and is interested in expanding her scientific understanding of the different fields of biology. The case is organized in three parts: genetics, cell biology, and biochemistry, each exploring DMD through its unique lens. Throughout the case, Casey is presented with multiple outlets of information, including class lectures, direct e-mail interaction with a professor, scientific journals and websites, from which she (and any student engaged with the case) gathers knowledge about DMD."