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 condition'. Sat, 03 Sep 2011 02:36:33 +0100 http://www.medworm.com/index.php?rid=3573775&cid=t_104695_111_f&fid=39123&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2Fnursingcomments%2Ftdtc%2F%7E3%2FQ4Reaa85lRs%2F           Tourette syndrome (TS), or Tourette disorder, is more common Origins of Tourette Syndrome than doctors once thought.  It affects at least 1 in 1,000 to 2,000 people and maybe more.  It is believed that about 100,000 Americans have the disorder. Many more may have other tic disorders that are less severe.  Tourette syndrome is more common in boys than in girls.  It almost always starts before age 18 – usually between ages 5 and 7.  Even though kids with Tourette syndrome can get better as they get older, many will always have it.  The good news is that it won’t make them sick or shorten their lives.  The syndrome is a condition that affects a person’s central nervous system and causes tics.  Tics are unwanted twitches, movements or sounds that ... Nursing Comments blogs http://www.medworm.com/rss/comments.php?id=3573775 Tue, 18 May 2010 09:35:04 +0100 3573775 http://www.medworm.com/index.php?rid=2744253&cid=t_104695_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FvOmV_OHO5s8%2F If you’re looking for some date night romantic flick this weekend, I suggest watching THE TIME TRAVELER’S WIFE. But leave your genetics behind the theater door. THE TIME TRAVELER’S WIFE is a movie-adaptation of the novel by Audrey Niffenegger. I just saw the movie and I loved the idea of a love so deep and true that it endures beyond time… Or in geekspeak – the space-time continuum known as time travel.     The movie revolves around Claire’s love for a man named Henry, who has a genetic condition that causes him to involuntarily travel in time. His condition is called Chrono-Displacement Disorder, which is apparently heritable. I don’t want to spoil the movie too much, so I won’t give away the storyline (you can Google it up). But if you’re like me who w... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2744253 Sat, 29 Aug 2009 06:33:04 +0100 2744253 http://www.medworm.com/index.php?rid=2035831&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F12%2F14%2Fgene-genie-41-carnivalome%2F Gene Genie is the blog carnival of clinical genetics and personalized medicine. I’ve received more than 25 submissions for this edition which is dedicated to the human genome and videos in clinical genetics. Many thanks to Ricardo Vidal for the logo! The molecular level: Daniel MacArthur at Genetic Future wrote about Genetics of gene expression in African-Americans: ominous news for personal genomics? Alex Palazzo at The Daily Transcript analyzed 100 years of genetic research. Greg Laden’s submission was The Scientific, Political, Social, and Pedagogical Context for the claim that “Race does not exist.” Larry Moran at Sandwalk talked about Genes and Straw Men The clinical level: Chavonne Jones at Human Genetics Disorders shared Muscular Dystrophy Gene Therapy Vide... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2035831 Sun, 14 Dec 2008 11:06:04 +0100 2035831 http://www.medworm.com/index.php?rid=1825799&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F09%2F23%2Fpotential-new-treatment-for-cystic-fibrosis%2F I just found an interesting article at the PHG Foundation about a new potential treatment for cystic fibrosis, a genetic condition affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines. It is caused by a mutation in the CFTR gene. The product of that gene is a a chloride ion channel that plays role in creating digestive juices and mucus. If there is no normal copy of the gene, the person will be affected by CF. The new drug VX-770 was developed by the Cystic Fibrosis Foundation in collaboration with Vertex Pharmaceuticals; it targets the defective CFTR protein to improve chloride transport. The Cystic Fibrosis Trust supports a group at the University of Bristol in investigating how new drugs restore function to defective CFTR proteins; group leader Dr David Sh... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1825799 Tue, 23 Sep 2008 20:12:40 +0100 1825799 http://www.medworm.com/index.php?rid=1446827&cid=t_104695_107_f&fid=36585&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FHighlightHEALTH%2F%7E3%2F291438557%2F This article was published on Highlight HEALTH. Related articlesCancer Research Carnival #7Cancer Research Carnival #7 Call for SubmissionsMedicine 2.0 #10 - Medicine and the Second Generation of Internet-based ServicesMedicine 2.0 #10 Call for SubmissionsHEALTH Highlights - September 10th, 2007 (Source: Highlight HEALTH) Highlight HEALTH blogs http://www.medworm.com/rss/comments.php?id=1446827 Fri, 16 May 2008 06:00:19 +0100 1446827 http://www.medworm.com/index.php?rid=1236969&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F02%2F16%2Fyoutube-top-10-videos-about-genetic-conditions%2F We all know how important it is to inform people about genetic conditions. I’ve created several articles and tried to list several sites and resources that could be useful for people with genetic conditions and for their relatives (see below). One of these resources is Youtube where I found some interesting videos focusing on the genetics of medical conditions. Please let me know if you happen to know more. Phenylketonuria: Haemochromatosis: Fragile X Syndrome: Huntington’s disease: Dystrophic Epidermolysis Bullosa: Neurofibromatosis: Alpha 1 Antitrypsin Deficiency: Cystic Fibrosis: Cri Du Chat: Duchenne’s Muscular Dystrophy: Further reading: 10 Tips: how to search for genetic conditions New Tips: How to search for genetic ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1236969 Sat, 16 Feb 2008 15:47:30 +0100 1236969 http://www.medworm.com/index.php?rid=1136897&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F01%2F08%2Fnewborn-screening-for-bubble-boy-disease-interview%2F On the 1st of January, the state of Wisconsin made a major step in the field of newborn screening. The collaboration of Wisconsin State Laboratory of Hygiene, Children’s Hospital of Wisconsin and the Jeffrey Modell Foundation resulted in screening newborns for Severe Combined Immune Deficiency (SCID). According to the Wikipedia article this is: …a genetic disorder in which both B and T cells of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the “bubble boy” disease because its victims are extremely vulnerable to infectious diseases. I’ve already presented The Jeffrey Modell Foundation (headquarters in New York) to you in June. Now, to know more abo... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1136897 Tue, 08 Jan 2008 21:39:14 +0100 1136897 http://www.medworm.com/index.php?rid=1132175&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F01%2F06%2Fgene-genie-23-paradise-of-genomics%2F Is it a paradise? You can decide after going through all the submitted articles. It’s my pleasure to host the newest edition of Gene Genie, the blog carnival of clinical genetics and personalized medicine. Many thanks to Ricardo Vidal for the logo! Let’s start with some clinical genetics-related news: Terra Sigillata talks about the genetics of autism. Don’t forget to check out the comments as well! Walter Jessen at Highlight Health focuses on the genetics of panic disorder. I must agree with the opinion of Misha Angrist at Genomeboy: God forbid an Alzheimer’s diagnosis ever bums anyone out. Elaine Warburton at Genetics and Health shares a new finding with us: Genetic manipulation ‘fixes’ Fragile X syndrome I’m pretty optimistic as we can see some steps forwa... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1132175 Sun, 06 Jan 2008 21:40:31 +0100 1132175 http://www.medworm.com/index.php?rid=1131709&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F01%2F05%2Fnew-tips-how-to-search-for-genetic-conditions%2F Last year, I came up with a list containg 10 tips on how to search for genetic conditions. Now, after weeks of tagging and browsing, I’d like to improve that list with some new tips. But this time, I’d like to show you databases dedicated not only to genetic conditions, but gene-disease associations and human genome epidemiology as well. Human Genome Epidemiology Network (HuGENet™ ): A global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease. HuGE Navigator: It provides access to a continuously updated knowledge base in human genome epidemiology, including information on population prevalence of gen... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1131709 Sat, 05 Jan 2008 20:01:14 +0100 1131709 http://www.medworm.com/index.php?rid=1121736&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F12%2F29%2Fsteps-forward-in-clinical-genetics%2F As I promised I’m here again to keep you up-to-date about the wonderful realm of clinical genetics. While there is a shortage of geneticists in the US and in other parts of the world as well, we can see some improvements regarding certain medical conditions. Let’s start with fragile X syndrome. Fragile X syndrome is the most common cause of mental retardation. As Wikipedia says: Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins. Original source: Wikimedia Commons under Free Art License The researchers of the Picower Institute for Lea... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1121736 Sat, 29 Dec 2007 17:23:27 +0100 1121736 http://www.medworm.com/index.php?rid=1097237&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F12%2F15%2Freggie-bibbs-and-the-just-ask-neurofibromatosis-campaign%2F Fellow Wikipedia editor and friend, Michaël Laurent, has recently asked me to take part in a great project: to interview Reggie Bibbs on his life with neurofibromatosis. I only wrote a short description of the condition, the work was totally done by Michaël and the interview was conducted by Lou Congelio. You should check out the whole story at WikiNews. Here is an excerpt. Reggie Bibbs is a 42-year-old-man living in Houston, Texas. Mr Bibbs was born with a genetic disease called neurofibromatosis (NF), which causes him to develop tumours on his body. NF can be a subtle disease, but in Bibbs’ case it has left him with a disfigured face. But he is happy with the way he looks, and doesn’t want to change his appearance to please other people. He has launched a succesful campaign... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1097237 Sat, 15 Dec 2007 22:19:27 +0100 1097237 http://www.medworm.com/index.php?rid=1002517&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F11%2F04%2Fgene-genie-19-geneticalization%2F Many thanks to Ricardo Vidal for the logo! Gene Genie is the blog carnival of genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). But we also accept articles on the news of genomics and personalized genetics. Let’s get ready to the geneticalization: DNA: Hsien-Hsien Lei at Eye on DNA tells us that New Line Genetics and SellMyDNA.com Offer $5,000 for Your DNA. Would you sell it? Nature’s Nascent has a short report about the amazing story of Hugh Rienhoff, his daughter and her DNA. Misha Angrist at Genomeboy comments the same story in the Don’t try this at home, kids post. Genes: Matt Mealiffe at DNA and You talks about several genes linked to eye color. Steve Murphy, our Gene Sherpa, expresses his opinio... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1002517 Sun, 04 Nov 2007 10:10:37 +0100 1002517 http://www.medworm.com/index.php?rid=822316&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F08%2F25%2Fnew-clues-for-down-syndrome%2F An excerpt from a recent article at Medical News Today: Scientists in Portugal and the US have discovered a key mechanism involved in the correct separation of chromosomes during the formation of eggs and sperm. The research about to be published in the journal Current Biology shows that BubR1 a gene recently shown to affect cell division maintains the cohesion of paired chromosomes (until their time to divide) during the production of reproductive cells. Because BubR1 mutations can result in cells with abnormal numbers of chromosomes, the research has potential implications for human disorders resulting from loss or gain of chromosomes such as Down Syndrome, a disease caused by an extra copy of chromosome 21. As Claudio Sunkel says, “our observations suggest for the first time that ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=822316 Sat, 25 Aug 2007 17:24:30 +0100 822316 http://www.medworm.com/index.php?rid=780406&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F08%2F05%2Fmendels-garden-17-blog-carnival-of-genetics%2F This time, it’s the honor of Scienceroll to host Mendel’s Garden, the blog carnival totally devoted to all the fields of genetics. I thought I couldn’t find enough articles as most of the bloggers were on their vacation. But I have to share 30(!) blogposts with you and as I would like to make it easier to go through all the submissions, I also present some funny videos on genetics. Enjoy and welcome in Mendel’s Garden! Let’s listen to music while reading the articles! Mendel-rap? Plants/animals: Trevor Covert at Epigenetics presents Epigenetic Natural Variation in Arabidopsis thaliana. Jonathan A. Eisen at The Tree of Life mentions Metagenomics Based Discovery Highlight: Novel Photosynthetic Organism Discovered. GrrlScientist at Living the Scientific Life has an... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=780406 Sun, 05 Aug 2007 08:25:40 +0100 780406 http://www.medworm.com/index.php?rid=749046&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F07%2F21%2Fweb-20-and-clinical-genetics-in-practice%2F Ramūnas Janavičius at cancer-genetics.com sent me some exceptional links to resources of clinical genetics. Why is it important? Once I wrote that: Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions. Last week, I got a chance to see how our geneticists work at the department of pediatrics. I admire their work, but in special cases, they had to search for syndromes in books! I mean they had to go through it page by page. I always dream about a software (a Diagnosaurus-like gadget) with which we could make it easier for physicians to diagnose a genetic condition. You just enter the symptoms and ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=749046 Sat, 21 Jul 2007 16:37:45 +0100 749046 http://www.medworm.com/index.php?rid=744849&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F07%2F19%2Fgenetic-testing-blogmix-and-a-funny-video%2F I’ve been totally busy because of my summer practice at the department of pediatrics. I’ve seen many cases when genetic tests are needed (a strange haemophilia-related case, hereditary spherocytosis, etc.). I thought I should be your aggregator for today, so I tried to collect the most interesting posts on genetic testing, and I also present a new genetic blog. Then after reading all of these, don’t miss the funny video about a parody of a public service announcement on genetic testing. Source Medicine 2.0 means that you can read valuable comments and opinions which are unlikely to be published in a scientific paper. Hsien-Hsien Lei greatly answers common questions about genetic testing. Steven Murphy, the Gene Sherpa always informs us about new techniques and procedures... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=744849 Thu, 19 Jul 2007 21:11:16 +0100 744849 http://www.medworm.com/index.php?rid=719823&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F07%2F07%2Ftowards-a-world-without-genetic-diseases%2F I always dream about it. I really believe that in the next decades, we’re going to find a cure or at least a proper treatment for all the important genetic conditions/diseases. Until then, people struggling with these disorders have to learn how to handle their problem. First, here is a beautiful example: Now, let’s see how we can get closer to that dream-world. I know it’s not going to be a patient-based post, but please forgive me this time. Here are 3 major improvements around muscular dystrophies, the first two articles present new diagnostic possibilities, while the third one is about the therapy: Detection And Diagnosis Of Muscular Dystrophy Advanced By New Genetic Test A new genetic test targeting the most common types of muscular dystrophy–those caused b... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=719823 Sat, 07 Jul 2007 20:14:51 +0100 719823 http://www.medworm.com/index.php?rid=707380&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F07%2F01%2Fpseudomonas-infections-and-cystic-fibrosis%2F Pseudomonas infection causes serious problems in people with cystic fibrosis. Check out MicrobiologyBytes for more! (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=707380 Sun, 01 Jul 2007 05:16:55 +0100 707380 http://www.medworm.com/index.php?rid=707186&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F06%2F30%2Fface-to-face-gaucher-disease%2F Some months ago, I wrote about Pompe disease, a rare, but important genetic disorder. I wanted to build awareness on the diagnostic delay, the cause of many misdiagnoses. Now, here is an other outstanding project about Gaucher disease. First, an excerpt from the Wikipedia article: Gaucher’s disease is the most common of the lysosomal storage diseases. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions… A journal-blog called Face to face, My journey for the Gaucher Initiative says: Through this journal I will be documenting my journey to meet the faces behind the Gaucher Initiative, a humanitarian program that provides Gaucher patients in developing countries with the enzyme replacement therapy, Cerezyme, free of charge. I have... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=707186 Sat, 30 Jun 2007 19:26:05 +0100 707186 http://www.medworm.com/index.php?rid=675989&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F06%2F13%2Fgiving-babies-a-chance-to-survive%2F I got a letter from Natalie Maniscalco who is working at The Jeffrey Modell Foundation. She asked me to post this message about the Foundation and the importance of avoiding diagnostic delay: Mission The Jeffrey Modell Foundation (JMF) was established by Vicki and Fred Modell in memory of their son, Jeffrey, who died at the age of 15 of a Primary Immunodeficiency (PI). The Foundation is dedicated to early and precise diagnosis, meaningful treatments and ultimately cures for Primary Immunodeficiencies. What you need to know: PI is a genetic defect in a child’s immune system. It’s more common than you think, it’s chronic, and if untreated, it can be deadly. It affects as many as 1 million children and young adults – more common than childhood leukemia and lymphoma combined. PI causes... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=675989 Wed, 13 Jun 2007 19:10:16 +0100 675989 http://www.medworm.com/index.php?rid=645145&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F28%2Fgenetic-breakthroughs-for-today%2F Three announcements that could have a big impact on genetic testing: New breast cancer genes discovery Scientists have developed a new technique to identify genes that increase the chance of women developing breast cancer. They hope it will lead to a single blood test which would reveal a woman’s risk of getting the disease. Scientists found two genes responsible for breast cancer two years ago. But now new research led by Cancer Research UK’s Cambridge Research Institute, published in the Nature journal, has found five more. Sweden approves embryo screening to save dying siblings The Swedish National Board of Health and Welfare has approved the highly-controversial procedure for three families whose children risk dying unless they receive a transplant of healthy st... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=645145 Mon, 28 May 2007 19:45:09 +0100 645145 http://www.medworm.com/index.php?rid=645146&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F27%2F10-tips-how-to-search-for-genetic-diseases%2F Some months ago, I wrote about Juan Magdaraog who is blogging about his struggle with Pompe disease, a rare, but important genetic condition. He let me know about an essential problem: the diagnostic delay. The diagnosis often poses a dilemma due to the rarity of the disease, the variable rates of progression and the unspecific phenotypic features… Just take a look at the diagnostic delay diagram, there are from 2 to 4 years between the first symptoms and the diagnosis! Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions. I know that there are hundreds of great resources on the net, but ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=645146 Sun, 27 May 2007 20:12:21 +0100 645146 http://www.medworm.com/index.php?rid=629254&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F20%2Fpersonalized-geneticsgenomics-blogterview-with-steven-murphy-md%2F I’ve recently decided to deepen my knowledge on the field of personalized genetics/genomics as it has an exceptional future in the realm of medicine (and business). And who is the right person to answer my geek questions? Of course, Steven Murphy, MD, the blogger of the Gene Sherpa. He is the Clinical Genetics Fellow at Yale University and is also the founder of a Personalized Medicine practice. We’ve heard a lot about personalized medicine, but please tell us more about personalized genetics. Sure. There are some fundamental differences here. When I think about personalized genetics (Which is different than personalized genomics) I think about modifier genes involved in single gene disorders such as Cystic Fibrosis. A few months ago, I diagnosed a 70 year old woman with CF.... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=629254 Sun, 20 May 2007 20:53:00 +0100 629254 http://www.medworm.com/index.php?rid=623623&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F19%2Fgene-genie-7-is-up-at-the-gene-sherpa%2F One of the best editions ever has been posted at the Gene Sherpa. The topic is (surprising, right?) personalized genetics. Steve Murphy covered the subject with interesting descriptions and collected about a dozen of submissions. Still we must never forget the roots of genetics. I am all too aware of the struggle people with metabolic diseases go through every day. We hear about this at Fight Pompe I am not surprised by the struggle to keep up with costs of this horrible disease. Thank you, Steve for hosting! Next time, we’re going to Eye on DNA! Visit the official website of the carnival at genegenie.wordpress.com and let us know if you plan to host an edition! Here are all the issues of Gene genie: First issue: Scienceroll Second issue: Sciencesque Third issue: Genetics and Health... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=623623 Sat, 19 May 2007 13:41:29 +0100 623623 http://www.medworm.com/index.php?rid=612325&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F15%2Fnews-of-genetics-and-some-words-about-genetic-education%2F I’ve recently found some interesting genetic blogposts, articles and sites that can be useful for users seeking genetic information. A Better Chromosome Map Will Be Produced Using New Technique (MedicalNewsToday.com) Researchers at the University of Illinois have developed a simple and economical technique for imaging and mapping fruit fly chromosomes. This new approach will enable them to construct the first accurate map of the chromosomes and tease out the secrets hidden in their stripes… The new approach will allow scientists to answer fundamental questions about chromosome structure… The Genomic Revolution AKA the birth of Personalized Medicine (Gene Sherpas) Steve Murphy talks about personalized medicine and the problems of genetic education: The solutions? Ar... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=612325 Tue, 15 May 2007 06:51:34 +0100 612325 http://www.medworm.com/index.php?rid=603758&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F13%2Fworld-community-grid-help-medicine-at-home%2F Sometimes a good idea and the participation of crowds can make a project fantastic. The World Community Grid has a beautiful mission: to create the largest public computing grid benefiting humanity. I’ve already installed it on my computer and it looks great. The official site says: Our work is built on the belief that technological innovation combined with visionary scientific research and large-scale volunteerism can change our world for the better. Our success depends on individuals - like you - collectively contributing their unused computer time to this not-for-profit endeavor. How can you help? Join as a member Join as a partner Find a team Or donwload the program and donate the time your computer is turned on, but is idle, to this project Where can you help? FightAIDS@Hom... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=603758 Sun, 13 May 2007 07:18:41 +0100 603758 http://www.medworm.com/index.php?rid=591204&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F05%2Fgene-genie-a-famous-blog-carnivals-sixth-issue%2F You may realized that our favourite blog carnival, Gene Genie has been mentioned in the last issue of Cell. So as it became a famous blog carnival with the goal of covering the whole genome before 2082, in the sixth issue, I’m going to mention at least a dozen of posts, articles focusing on genes and gene-related diseases. If you happen to remember the time when I hosted Grand rounds, the weekly blog carnival of the best of the medical blogosphere, you’ll not be astonished by these weird videos of genetics. So let’s get ready to the genes… My Biotech Life presents a gene called Tbx1 whose inactivation leads to DiGeorge syndrome, a rare congenital disease. He also describes Tbx2/3 transcription factors and their role in embryonic development. The SciencetificBlogging... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=591204 Sat, 05 May 2007 19:31:41 +0100 591204 http://www.medworm.com/index.php?rid=589750&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F05%2F04%2Fptc124-a-drug-against-genetic-diseases-overview%2F I’ve already written about the Times Online article (Daily pill to beat genetic diseases), but I would like to give a clear overview of this “miracle-drug”. The story of PTC124 is not new, it goes back to 2004. Anyway, what is it about? PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual’s DNA. Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein. So PTC124 binds to the ribosome, ignores the nonsense muta... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=589750 Fri, 04 May 2007 16:37:06 +0100 589750 http://www.medworm.com/index.php?rid=570100&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F04%2F25%2Fnews-of-genetics-lets-beat-genetic-diseases%2F I’m just back from a poker tournament, and I can’t stop posting the most interesting and promising genetic news and announcements from the recent days: Daily pill to beat genetic diseases (Times Online) A pill that can correct a wide range of faulty genes which cause crippling illnesses should be available within three years, promising a revolution in the treatment of thousands of conditions. The drug, known as PTC124, has already had encouraging results in patients with Duchenne muscular dystrophy and cystic fibrosis. The final phase of clinical trials is to begin this year, and it could be licensed as early as 2009. I must write more about PTC124 and the possible therapeutic possibilities. A great topic. New Test May Allow Population Screening For Fragile X Syndrome A n... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=570100 Wed, 25 Apr 2007 19:45:50 +0100 570100 http://www.medworm.com/index.php?rid=560422&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F04%2F22%2Fthe-best-genetics-of-the-week-and-a-medstudent-who-loves-vagina%2F Here are the best genetic and clinical genetic blogposts and news of the week with a superb animation about stem cells. Let’s start with two major findings, two hopes for two serious genetic conditions. DNA repair as key to Huntington’s disease Mayo Clinic researchers, along with collaborators from the National Institutes of Health (NIH) and University of Oslo, Norway, have discovered that a miscue of the body’s genetic repair system may cause Huntington’s disease, a fatal condition that affects 30,000 Americans annually by destroying their nervous system. Restoration of muscle function in muscular dystrophy Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC The... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=560422 Sun, 22 Apr 2007 19:33:26 +0100 560422 http://www.medworm.com/index.php?rid=528958&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F04%2F08%2Fnews-of-the-world-of-medicine-20%2F After my successful urology exam, let’s take a tour into the realm of web 2.0 an medicine. First, I show you some useful sites, then we’re going to continue with blogposts and finally, a great video about genetic screening. DNATube: a scientific research site providing video based studies, lecturers and seminars. In the genetics category, there are plenty of interesting videos such as the 3D structure of chromosomes. PubMed Reader: a free web-based research program for displaying PubMed / Medline search results on an individual basis. Create your own uptodate Medline and PubMed literature search! YourSciCom: Science 2.0, a completely open research project’s blog. Placebo Journal Blog: an extension of the Placebo Journal. Wikipedia: We aren’t Citizendum: a... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=528958 Sun, 08 Apr 2007 09:11:15 +0100 528958 http://www.medworm.com/index.php?rid=486294&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F03%2F21%2Fgenetics-for-the-public%2F Marie Godfrey has left a comment on one of my posts recently, and asked me whether I’d like to write about her blog and the Genetic Alliance non-profit organization. They both try to make genetics more readable and understandable for laymen and people with genetic conditions. So first, let’s take a deeper look at GeneForum and the Genetizen blog: Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues. I can’t admire enough the goals like that: Geneforum strives to promote civic discourse about genetic policy through public education, public engagement, and public consul... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=486294 Wed, 21 Mar 2007 08:29:44 +0100 486294 http://www.medworm.com/index.php?rid=486299&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F03%2F17%2Fnewborn-screening-in-the-us-a-mothers-story-about-how-to-improve-a-whole-system%2F Some time ago, in one of my posts I noted that I was looking for a newborn screening specialist. Then I got a letter from a mother of a boy with MCAD (medium chain acyl CoA dehydrogenase defect) from Texas and I had to realize how incredible story she had. Laura Clow who is also a member of www.savebabies.org website, kindly answered my questions. Please tell us the story of your boy! How was he diagnosed with medium chain acyl CoA dehydrogenase defect? Brickman was a full-term, seemingly perfect, healthy baby & toddler, hitting every developmental milestone ahead of schedule. When he was 19 months old, he became ill with a stomach virus. He went 18 hours without food because of the illness. He began having seizures and slipped into a coma. The doctors at the E.R. could not determ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=486299 Sat, 17 Mar 2007 11:04:33 +0100 486299 http://www.medworm.com/index.php?rid=486313&cid=t_104695_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F03%2F04%2Fthe-gene-genie-issue-2%2F Our gene-related blog carnival is up at Sciencesque. Tim has made a great job, collected all the important gene and genetic condition related articles from the past 2 weeks. Take a look at his work in case you don’t want to miss the genetic cause of agressive gum disease IQ related genes ABO genes Tim’s random word generator result Pompe disease or the DNA of Jesus! The next issue is due to be published in two weeks. If you have a gene-related article or want to host a Gene Genie, then contact me (berci.mesko [at] gmail.com). (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=486313 Sun, 04 Mar 2007 08:00:45 +0100 486313