Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one person in every several thousands or millions. Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA. In such cases, the defect will only be heritable if it occurs in the germ line. The same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and mainly by environmental causes in still other people. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by environmental factors and events in the person's development. Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.[1] A single gene disorder is the result of a single mutated gene. Over 4000 human diseases … Continue reading →

Background According to the American College of Medical Genetics (ACMG), an important issue in genetic testing is defining the scope of informed consent. The obligation to counsel and obtain consent is inherent in the clinician-patient and investigator-subject relationships. In the case of most genetic tests, the patient or subject should be informed that the test might yield information regarding a carrier or disease state that requires difficult choices regarding their current or future health, insurance coverage, career, marriage, or reproductive options. The objective of informed consent is to preserve the individual's right to decide whether to have a genetic test. This right includes the right of refusal should the individual decide the potential harm (stigmatization or undesired choices) outweighs the potential benefits. DNA-based mutation analysis is not covered for routine carrier testing for the diagnosis of Tay-Sachs and Sandhoff disease. Under accepted guidelines, diagnosis is primarily accomplished through biochemical assessment of serum, leukocyte, or platelet hexosaminidase A and B levels. The literature states that mutation analysis is appropriate for individuals with persistently inconclusive enzyme-based results and to exclude pseudo-deficiency (non-disease related) mutations in carrier couples. Testing of a member who is at substantial familial risk for being a heterozygote (carrier) … Continue reading →

Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue. Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially "floppy." Though this can and often does improve over time, most children with DS typically reach developmental milestones like sitting up, crawling, and walking later than other kids. At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching. Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace which is why it's important not to compare a child with DS against typically developing siblings or even other children … Continue reading →

Although LDL is an important risk factor for aortic valve disease, the precise role it plays has been uncertain. Lipid-lowering therapy in people with established aortic valve disease has not been shown to be beneficial. Now, however,a new genetic study published inJAMAsuggests that LDL cholesterol may in fact cause an increase in aortic valve calcium and aortic valve stenosis. This may mean that LDL-lowering therapy could prove beneficial when given earlier in the disease process. Researchers in theCohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium used Mendelian randomization to assess in nearly 7,000 people the association of a genetic risk score with the presence of aortic valve calcium. They founda strong association between the genetic risk score for LDL and the presence of aortic valve calcium. The researchers also analyzed data from more than 28,000 participants in thethe Malm Diet and Cancer Study (MDCS). The genetic risk score for LDL was significantly associated with the incidence of aortic stenosis as ascertained from national registries. Our findings link a genetically mediated increase in plasma LDL-C with early subclinical valve disease, as measured by aortic valve calcium, and incident clinical aortic stenosis, providing supportive evidence for a causal role … Continue reading →

PUBLIC RELEASE DATE: 27-Oct-2014 Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline New Rochelle, NY, October 27, 2014More than half of women with children less than a year old are working, and work travel can make breastfeeding a challenge. A study of 100 U.S. airports found that few provided a suitably equipped, private lactation room, even though most described themselves as being breastfeeding friendly, as reported in Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine published by Mary Ann Liebert, Inc., publishers. The article is available free on the Breastfeeding Medicine website at http://online.liebertpub.com/doi/full/10.1089/bfm.2014.0112 until November 27, 2014. In "Airports in the United States. Are They Really Breastfeeding Friendly?," authors Michael Haight, University of California, San Francisco-Fresno and Joan Ortiz, Limerick Inc. (Burbank, CA), report that while 62% of the airports surveyed answered yes to whether they were "breastfeeding friendly," only 37% provided a specific lactation room. In only 8% of the airports did that designated space offer the minimum requirements of not being used as a bathroom and having an electrical outlet, table, and chair. These included San Francisco International, Minneapolis-St. Paul International, Baltimore/Washington International, San Jose International, Indianapolis International, Akron-Canton Regional … Continue reading →