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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.

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.

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

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

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. 

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

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.

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.

An elderly woman living independently with some help from her family is brought to the local emergency room because she is confused and vomiting. While her son suspects a stroke, a quick battery of laboratory tests indicates that her current problems are the result of impaired kidney function, an old-fashioned home remedy for ulcers, and her prescribed blood pressure medication. The combination of patient- and drug-related factors produces an acid-base disorder responsible for her confusion. This disorder further disrupts her kidney function. The case illustrates secretion and reabsorption processes in the kidney tubule which regulate plasma and urinary electrolytes (including calcium) and pH. The role of bicarbonate in maintaining systemic pH is emphasized. Interactions among the renal, respiratory and nervous systems in the regulation of systemic pH are also illustrated. Further, basic principles of pharmacotherapy and issues related to the appropriate use of medications are introduced. The case was developed for use in a physiology or human anatomy and physiology course, but it might be used in undergraduate nursing courses as well (e.g., pharmacology, pathophysiology).

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.

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.

Adrenoleukodystrophy fact sheet, NIH Neurological disorders and stroke 

Now, scientists at the Salk Institute for Biological Studies in La Jolla, Calif., have pinpointed a gene linked to these disorders that seems to be crucial for normal brain structure in prenatal development. The findings, which appear in an open-access article in the Jan. 14 issue of Cell Reports, shed new light on the mechanistic workings of a gene called MDGA1, previously implicated in autism, schizophrenia and bipolar disorder.

The woman in this case had cachexia, a metabolic disorder that affects some 9 million people worldwide, including as many as 80% of people with advanced cancer. It typically involves extreme weight- and muscle-loss, makes routine activities difficult and increases the risk of deadly complications such as infections. Adding calories doesn't reverse cachexia, and McClement says that the disorder sometimes provokes extreme reactions from family members because it serves as visual confirmation of their worst fears. "It's a constant reminder that the person is sick and is not going to get better," says McClement.

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

In the past decade, the US honeybee population has been decreasing at an alarming and unprecedented rate. While this is obviously bad news for honeypots everywhere, bees also help feed us in a bigger way -- by pollinating our nation's crops. Emma Bryce investigates potential causes for this widespread colony collapse disorder.

The discovery of this genetic disorder, reported in two papers in the journal Cell, demonstrates the growing power of new tools to uncover the causes of diseases that previously stumped doctors.

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.

Mitochondrial diseases are a group of disorders caused by genetic mutations. In this animation, Nature Video finds out how these diseases arise, and how new techniques can stop them being passed on from mother to child.