MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'genetic disorders'. Sat, 03 Sep 2011 02:54:17 +0100 http://www.medworm.com/index.php?rid=4018142&cid=t_199448_87_f&fid=34872&url=http%3A%2F%2Fblisstree.com%2Ffeel%2F202679%2F Inherited ADHD: A new study suggests that ADHD is genetic. (via CNN) Post from: BlissTree (Source: Healthbolt) Healthbolt blogs http://www.medworm.com/rss/comments.php?id=4018142 Thu, 30 Sep 2010 15:45:04 +0100 4018142 http://www.medworm.com/index.php?rid=2886649&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FR7LcuCQ5FUE%2F Hereditary angioedema (HAE) is a potentially fatal genetic disorder caused by a deficient or abnormal blood protein called C1 inhibitor. It causes swelling of the extremities, face, trunk, abdomen or airways. Abdominal attacks can result in severe pain, nausea, vomiting, cramps and diarrhea. The attacks can be spontaneous but may also be triggered by stress, surgery or infection. Death may result when the airways close because of the swelling. Only 1 in 50,00 to 150,000 people worldwide/ 1 in 10,000 to 50,000 in the US is affected by this rare dominant mutation, but the mortality is quite high (30%) so it’s really good that the U.S. Food and Drug Administration has approved a treatment Hereditary angioedema. The FDA announced that Berinert has been approved for adults and adolescents wi... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2886649 Tue, 13 Oct 2009 03:58:27 +0100 2886649 http://www.medworm.com/index.php?rid=2458375&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FRdUHmqA3XeA%2F My heart breaks when I see photos of children suffering from genetic disorders, such as the nine babies from this story. But this story also lauds to the use of genetically modified organisms for producing drugs for treatment. Recently, scientists discovered a new genetic disorder in nine newborn to 2-week old babies. The infants had swollen bone tissues, bone pain and deformity, and rashes that can range in size from small fluid-filled blisters or pustules to blisters that covered the whole body. The researchers immediately realized they were looking at an unrecognized auto-inflammatory syndrome, where recurring episodes of inflammation occur without any pathogens or immune cells triggering the reaction. All nine babies had mutations of IL1RN, a gene involved in the immune response whic... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2458375 Fri, 05 Jun 2009 20:34:11 +0100 2458375 http://www.medworm.com/index.php?rid=2442307&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FnFjPviJxtHc%2F Bethany Jordan may look just like any young girl, except she has an extraordinary story to tell, and she is only six years old. Bethany was born with a heart that faces her back, two left lungs, a diseased and backwards liver, a stomach on the wrong side and five spleens. So unusual was her anatomy that doctors said her insides looked like a jigsaw, and soon Bethany was nicknamed the “Jigsaw Kid”. Bethany Jordan has an extremely rare genetic disorder called Ivemark Syndrome that is characterized by misplaced or mis-oriented organs, a poorly-formed cardiovascular system and an absent (asplenia) or multiple number of (polysplenia) spleens. Doctors diagnosed her condition through routine pregnancy scans and thought she would never survive birth. But her brain function was normal and... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2442307 Wed, 27 May 2009 12:47:00 +0100 2442307 http://www.medworm.com/index.php?rid=2323428&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FsUBmhdE1fiY%2F When I tell people I used to research about the genetics of myopia (or nearsightedness),  one of the questions they ask is whether they’ll pass it to their children. And I tell them there are other factors, “interactions” we call them, between our genes and our environment that determine if certain genes will express and/or be passed to our children. Genes and Environment play roles in diseases. Image: Newscom For example, mutations in the brca1 gene are highly associated with very high risks of breast cancer. A brca1 (breast cancer 1; on chromosome 7) is one of the genes in the body that suppresses tumors, by repairing damaged DNA. A mutation or defect in the gene produces a protein that can not repair DNA in other genes. A person with brca1 mutations has up to 80% risk... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2323428 Sat, 04 Apr 2009 13:00:17 +0100 2323428 http://www.medworm.com/index.php?rid=1960800&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FCgi-1RFzm8Y%2F Inspired by Diabetes Notes’ "Putting a Face on Diabetes", I wanted to do the same and show how people with genetic disorders - rare or common - manage their condition and live their lives to the full. I found a feature article about a teenager named Lizzie Tinney, living with Xeroderma Pigmentosa or XP. Lizzie is only 13 years old and yet she already had to undergo surgeries to remove skin cancer sores. Even while wearing protective clothing from head to tow, Lizzie still has to carry around a meter to measure how much UV light she receives. "It’s way hard. Its way still hard because I love the sun," says Lizzie. "But now that I know that I have XP, I can just go out with my hood on and I go out and play." Xeroderma Pigmentosa is a rare genetic... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1960800 Fri, 14 Nov 2008 17:21:22 +0100 1960800 http://www.medworm.com/index.php?rid=1918043&cid=t_199448_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FbKNX86Ir9iw%2F I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it. Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding. Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him that his $20,000-per-week treatment didn’t seem to be working (in delaying the progression of the disease). Tr... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1918043 Thu, 30 Oct 2008 02:09:37 +0100 1918043 http://www.medworm.com/index.php?rid=1727809&cid=t_199448_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2008%2F07%2F16%2Fpov-documentary-in-the-family-one-womans-journey-through-the-unpredictable-world-of-predicative-genetic-testing%2F “At the age of 27, filmmaker Joanna Rudnick tested positive for the BRCA mutation. Joanna now faces an impossible decision: remove her healthy breasts and ovaries or risk incredible odds of developing cancer. Armed with a positive test result that leaves her essentially “a ticking time bomb,” she balances dreams of having her [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=1727809 Wed, 16 Jul 2008 22:51:22 +0100 1727809