Autism is on the rise (or is it?) Oct 8, 2009
Some are even willing to diagnose autism as a co-morbid condition in "people with clearly identifiable genetic disorders, such as Down syndromewhich is something that nobody would have dreamed of doing in the past," says Roy Grinker, a George Washington University anthropologist (and father of a child with autism) who believes the new numbers largely reflect an increase in diagnosis rather than actual illness. At the same time, there's good evidence that more children actually are suffering... (MSNBC -- Health)
Mom hopes Chinese treatment can save her sight Oct 4, 2009
RESEARCH: In 1988 the disease was discovered to be one of a group of genetic disorders inherited only through the mother. However, it is believed other factors are involved, since not every carrier goes blind. (Daytona Beach News Journal)
Abuse Of Subsidized Health Care: The View From One Exam Room Oct 3, 2009
I asked about medical history, allergies, medications and genetic disorders. Upon questioning Sherry S., a pretty 46-year-old seeking wrinkle relief, I learned that four of her immediate family members had been diagnosed with breast or colon cancer before 50. (Investors Business Daily)
Supporting Italian culture and community Oct 3, 2009
Other charitable efforts consist of annual donations from money raised at our fund-raising events to the National Alzheimer s Association, Cooley s Anemia (Thalassemia- a group of genetic disorders), Don Orione Home and Madonna Queen Shrine for elderly men and women in need of extended medical care and Casa Monte Cassino, whose humanitarian mission is to provide free housing and vital services to those who have brought their blind infants for treatment in hopes of addressing and curing... (Burlington Union, MA)
Prospective Parents and Genetic Testing Oct 2, 2009
Dr. Jennifer Ashton Discusses People Turning to Science to Try to Avoid Genetic Disorders in Future Children ... are able to discern embryos affected by certain genetic disorders ... Dr. Harvey J. Stern, of the Genetics and In Vitro Fertilization Institute, explained, "We can track a segment of DNA from the inheritance through both parents to an embryo, and to be able to determine if that embryo is affected with one of a number of genetic disorders.". (CBS News)
Mother Knows Best: Females Control Sperm Storage To Pick The Best Father Sep 30, 2009
In general, offspring produced with close relatives are more likely to have genetic disorders. Different animals employ a range of behaviours to avoid this, such as not mating other animals from the group they grow up in. (Science Daily)
Study gives insight into ancestral population of India Sep 30, 2009
HYDERABAD: The first-ever genome-scale analysis of the anthropological history of the Indian people has established that the population is a mixture of two ancestral groups and that they are vulnerable to certain genetic disorders. Scientists from India and the US have shown that India is genetically not a single large population but a combination of smaller isolated populations. (India Times, India -- Health/Science)
Two New Chemicals Could Lead To New Drugs For Genetic Disorders Sep 30, 2009
"When DNA changes, such as nonsense mutations, occur in the middle rather than the end of a protein-producing signal, they act like a stop sign that tells the cell to prematurely interrupt protein synthesis," explained Dr. Richard Gatti, professor of pathology and laboratory medicine and human genetics at the David Geffen School of Medicine at UCLA. "These nonsense mutations cause the loss of vital proteins that can lead to deadly genetic disorders." ... The UCLA team is optimistic that their... (Science Daily)
Aryan-Dravidian divide a myth: Study Sep 25, 2009
Singh said that 70% of Indians were burdened with genetic disorders and the study could help answer why certain conditions restricted themselves to one population. For instance, breast cancer among Parsi women, motor neuron diseases among residents of Tirupati and Chittoor, or sickle cell anaemia among certain tribes in central India and the North-East can now be understood better, said researchers. (India Times, India)
Genzyme struggles to recover from virus Sep 21, 2009
CAMBRIDGE - Genzyme Corp. s chief executive, Henri A. Termeer, was at his summer home in Maine on June 13 when he got a phone call confirming what he already feared: A virus had infected a bioreactor at his company s Allston Landing plant, forcing a halt to the production of two expensive drugs that treat rare genetic disorders. Termeer knew it would be a rough summer. (Boston Globe)
Abbott shopping around for pharma growth, analysts say Sep 19, 2009
Biomarin would be a less-risky alternative than Alexion for Abbott because it markets three products instead of one, including drugs to treat various genetic disorders. Biomarin, which also has a rare-disease focus, likely would be a cheaper buy, with a market capitalization of about $1. (Crain's Chicago Business)
Loci Color: Gene Therapy Cures Color-Blindness in Adult Monkeys Sep 17, 2009
4 percent of women, and is one of the most common genetic disorders. So curing it would bring relief to many. (Scientific American)
Even today, others make health decisions Sep 13, 2009
I have encountered families whose children were denied medical coverage because of exclusions for congenital disorders or genetic disorders or because they had already reached the financial caps in the insurance policy. Even though there were no "panels," the exclusions written into the health insurance policies effectively made the decisions, not the doctors. (The Pantagraph newspaper)
Hingham mom organizes bone marrow drive Sep 11, 2009
Devine decided to organize a bone marrow drive to help inform people about the importance of joining the National Marrow Donor registry and possibly becoming a possible match for someone suffering from leukemia or other immune system and genetic disorders. I don t know how many people will show up, Devine said. (Hingham Journal, MA)
Computational Process Zeroes In On Top Genetic Cancer Suspects Sep 3, 2009
(May 19, 2009) A new tool will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders. The tool translates DNA sequences into. (Science Daily)
Finding The ZIP-code For Gene Therapy: Scientists Imitate Viruses To Deliver Therapeutic Genes Sep 2, 2009
As a result of this achievement, therapeutic DNA can be transferred to a cell's nucleus far more efficiently than in the past, raising hopes for more effective treatment of genetic disorders and some types of cancers. See also. (Science Daily)
Gene mutation responsible for premature skin aging disease identified Sep 1, 2009
"Rare genetic disorders often provide surprising revelations. Pooling resources and targeting research to find new ways of combating disease and benefiting people faster is exactly what we try to do at IMB.". . (EurekAlert!)
Experiment Raises Prospect of Babies With 3 Parents Aug 27, 2009
The successful experiment in a close human relative suggests that it should be possible within a few years to use the method to help women who carry genetic disorders to avoid passing them to their children. It should allow scientists to replace faulty cellular batteries called mitochondria, which affect about 1 in 6,500 births. (Fox News)
Malaysia successfully treat cartilage with stem cell Aug 21, 2009
Blood genetic disorders like thalassemias and immunodeficiency syndromes could be cured using stem cell too, added Liow. He said Malaysia would carry on with its stem cell research activities in view that stem cell transplant had held great promises for the treatment of many important diseases. (Xinhuanet, China)
Let the race begin Aug 21, 2009
Genzyme became one of the state s largest biotech companies thanks to an unusual strategy that depends on a stable of high-priced drugs to treat rare genetic disorders. None is more important than Cerezyme, which went on the market in the early 1990s and has generated about $10 billion in revenue since. (Boston Globe)
Genes and not just drugs can bend gender too Aug 21, 2009
The gender test ordered up for the South African wunderkind who grabbed 800-metre gold this week could reveal any of several genetic disorders resulting in a physically ambiguous sexual identity, experts say ... An expert on "gender and transgender issues" may also take part, according to the guidelines, which identify several genetic disorders not necessarily disqualifying even if they can give female athletes an edge. (India Times, India)
Model Explains Disorders Caused By Improper Transmission Of Chromosomes Aug 19, 2009
(July 17, 2009) Scientists have a better understanding of what causes an abnormal number of chromosomes in offspring, a condition called aneuploidy that encompasses the most common genetic disorders in humans, such. (Mar. (Science Daily)
UAMS opens clinic for adult Down patients Aug 5, 2009
The facility is to treat Down syndrome patients and others with genetic disorders starting at about age 10 or 11. The clinic is organized so that the patients will have up to an hour and a half for their appointments. (KSLA.com, LA)
Bone's material flaws lead to disease Aug 5, 2009
"The consideration of how material properties change in diseases could lead to a new paradigm in the study of genetic disorders that expands beyond the biochemical approach," said Buehler. "We wanted to see how a single-point genetic mutation in a collagen molecule could cause entire tissue to become brittle, soft and even fail. The medical community finds correlations between genetics and patients; our interest is in finding the correlation between genetics and a material's behavior," he said. (EurekAlert!)
Genzyme says FDA will reinspect Allston plant Aug 1, 2009
Genzyme this week resumed production in Allston of a pair of biotech drugs for rare genetic disorders. Genzyme spokesman Bo Piela said the new FDA visit, which has yet to be scheduled, will address two separate but related issues. (Boston Globe)
PAPER: Tough love for fat people: Tax their food to pay for healthcare... Jul 29, 2009
Next lets look for other genetic disorders that we can tax. Posted by: RMason. (The Drudge Report)
Maternal, paternal genes' tug-of-war may last well into childhood Jul 29, 2009
July 28, 2009 -- An analysis of rare genetic disorders in which children lack some genes from one parent suggests that maternal and paternal genes engage in a subtle tug-of-war well into childhood, and possibly as late as the onset of puberty ... Haig delved into clinical case reports on patients with four rare genetic disorders. (EurekAlert!)
Disturbed Calcium Signaling May Play Critical Role In Brain Cell Degeneration Jul 29, 2009
It is one of a group of genetic disorders characterized by ataxia, or loss of muscle coordination. "We have known for some time that, at a molecular level, SCA2 is caused by glutamine repeat mutations in the ataxin-2 gene, but the exact mechanism of Purkinje cell degeneration is not well understood," says Stefan-M. Pulst, MD, University of Utah professor and chair of neurology, member of the Brain Institute at the University of Utah, and contributor author on this study. (Science Daily)
* DNA databases set for shakeup Jul 17, 2009
Under the bill, only adults would be allowed to give biological samples, with the exception of members of specific groups, such as patients suffering from rare genetic disorders. Participants in the genetic pools would have the right to know how their samples would be used, how long they would remain in research labs, possible complications that may take place during collection of the samples or the risks to the providers and their family members as a result of information gleaned from DNA data. (Taipei Times, Taiwan -- Business)
Governor wants insurance coverage for treatment of autism Jul 11, 2009
Nixon on Wednesday also signed a bill adding a screening requirement for newborns, for several rare, but often fatal, genetic disorders. The new law adds five "lysosomal storage disorders" to 67 other diseases Missouri infants already are screened for. (Fulton Sun, MO)
Single Thawed Embryo Transfer After PGD Does Not Affect Pregnancy Rates Jul 11, 2009
These results should empower fertility centres to include PGD cycles for inherited genetic disorders in their efforts to reduce the multiple pregnancy rates after various forms of assisted conception treatment ... Until now, fertility specialists have not applied a single embryo transfer policy to PGD for inherited genetic disorders because of concerns about how well biopsied embryos survive after freezing and thawing ... From January 2006 to July 2008 Dr Khalaf and his colleagues offered single... (Science Daily)
Genzyme patients not negatively affected by production halt, they say Jul 10, 2009
A nearly monthlong halt in the production of two drugs that treat rare genetic disorders has not yet caused significant hardship for those who depend on the treatments, according to patients and advocates. We haven t heard any real upset in the patient community thus far, said Jack Johnson, a Missouri man who takes Fabrazyme, one of the drugs made by Cambridge biotechnology company , and who also runs a support and information group for people with his disorder. (Boston Globe)
Science scholarship winner says coming from small-town Newell was an advantage Jul 9, 2009
After college, Durch would like to pursue a career in researching cures for genetic disorders. Although it was a hard decision, Durch said she won t continue in athletics in college. (Rapid City Journal, SD)
New Mass Spectrometric Method Allows Fast And Comprehensive Analyses Of Metabolites Jul 7, 2009
(July 22, 2007) Scientists are working to establish a technique that would provide a new approach for detecting a number of genetic disorders found in infants and young. (Jan. (Science Daily)
ResBoost: characterizing and predicting catalytic residues in enzymes Jun 28, 2009
Identifying the catalytic residues in enzymes can aid in understanding the molecular basis of an enzyme's function and has significant implications for designing new drugs, identifying genetic disorders, and engineering proteins with novel functions. Since experimentally determining catalytic sites is expensive, better computational methods for identifying catalytic residues are needed. (BioMed Central)
Genzyme drugs could be rationed for longer Jun 26, 2009
yesterday said supplies of two drugs that treat rare genetic disorders could be rationed for longer than originally thought. The extension is a result of an expanded cleanup effort at the biotechnology company s Boston manufacturing plant and lower inventory for one of the drugs than initially calculated. (Boston Globe)
After a virus invades, Genzyme scrubs down Jun 25, 2009
The intensive cleanup follows the discovery of a virus in one of six bioreactors at the red-brick plant, which makes two expen sive drugs to treat rare genetic disorders. Although the virus is not harmful to humans, it could affect the growth of cells used to make the treatments, Cerezyme and Fabrazyme, so production was halted almost two weeks ago. (Boston Globe)
Genzyme sees outside vendor as source of plant contamination Jun 20, 2009
A viral contamination at Genzyme s Allston manufacturing plant forced the company to halt through July the production of drugs used to treat rare genetic disorders ... The drugs, made using genetically engineered Chinese hamster ovary cells in large vats filled with nutrients and other chemicals, are used to treat about 8,000 patients around the world with rare genetic disorders. (Boston Globe)
Discovery Of Facial Malformation Gene Jun 20, 2009
Professor Wilkie believes that the research also highlights the power of genetics to identify the origins of genetic disorders. This study illustrates the tremendous power of genetics to identify the origins of rare disorders such as frontorhiny, even when working with very small numbers of individuals. (Science Daily)
Virus shuts Genzyme plant,holds up drugs for 8,000 Jun 17, 2009
In an unprecedented move for , the state s largest biotechnology company has halted production of two drugs for rare genetic disorders after a virus was discovered in production equipment at its Allston plant. The drugs are used by 8,000 people worldwide and cost about $200,000 per patient annually. (Boston Globe)
Development of an integrative database with 499 novel microsatellite markers for Macaca fascicularis Jun 5, 2009
Cynomolgus macaques (Macaca fascicularis) are a valuable resource for linkage studies of genetic disorders, but their microsatellite markers are not sufficient ... Our novel microsatellite marker set and genomic database will be valuable integrative resources in analyzing genetic disorders in cynomolgus macaques. (BioMed Central)
Cedars-Sinai Medical Center's 24th Annual Sports Spectacular Set for Sunday, June 7, 2009 Jun 2, 2009
The Institute's focus is to provide expert consultation and leading-edge research to find new and improved methods of diagnosis, prevention and treatment for all types of genetic disorders, including mental retardation, dwarfism, deafness and malformation syndromes, as well as common diseases of adulthood, such as heart disease, hypertension and diabetes. Over the years, the event has honored many of the greatest athletes of all time, including Muhammad Ali, Baron Davis, Jerome Bettis, Jimmy... (Yahoo! Wire -- Entertainment News)
Contact lens stem cell sight aid May 29, 2009
Corneal disease can be caused by genetic disorders, surgery, burns, infections or chemotherapy. In this study, all three patients had damage to the epithelium - the layer of cells covering the front of the cornea. (BBC News -- Health)
Gene for glowing passed on to monkey offspring May 29, 2009
Transgenic marmosets could be useful for studying infectious diseases, immunology and neurological disorders as well as some genetic disorders like muscular dystrophy, they wrote. But marmoset biology differs enough from humans to prevent study of other disorders like AIDS and tuberculosis, which can be approached instead through other monkeys that are more closely related to humans, they wrote. (San Francisco Chronicle -- Weird News)
Expert urges testing for genetic disorders May 29, 2009
But they also share an increased incidence of Jewish genetic disorders (JGD) such as Gaucher, Tay-Sachs, familial dysautonomia, cystic fibrosis, Niemann-Pick and Canavan. Early screenings for these disorders and others can identify inherited genes that could lead to genetic disorders in children, says Gary S. Frohlich, M.S., CGS, senior medical affairs liaison for Genzyme Therapeutics ... At this point we are able to screen for at least 11 Jewish Genetic Disorders, and some centers can screen... (Cleveland Jewish News, OH)
Predisposing Factors for Adrenal Insufficiency May 28, 2009
What genetic disorders, infections, and medications should be considered. What are the current views on the underlying mechanisms. (New England Journal of Medicine)
New Tool Helps Researchers Identify DNA Patterns Of Cancer, Genetic Disorders May 20, 2009
ScienceDaily (May 19, 2009) A new tool will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders. The tool was developed at North Carolina State University and translates DNA sequences into graphic images, which allows researchers to distinguish genetic patterns more quickly and efficiently than was historically possible using computers. (Science Daily)
Gene May 'Bypass' Disease-linked Mitochondrial Defects May 13, 2009
"OXPHOS dysfunction is not just a problem in some rare genetic disorders or in degenerative diseases," he said. It's an issue in a very large number of pathologies and a major cause of tissue damage after heart attack and stroke. (Science Daily)
Moving gene therapy forward with mobile DNA May 4, 2009
The VIB researchers are further testing this technology to treat specific diseases including cancer and genetic disorders, in anticipation of moving forward and treat patients suffering from these diseases. . (EurekAlert!)
New Tests Available for Cattle Genetic Disorders (14) May 4, 2009
New Tests Available for Cattle Genetic Disorders Agri-View: Livestock News ... New Tests Available for Cattle Genetic Disorders. (Agri-View, WI)
Amag, Biomarin, Harford Financial, McAfee, MetLife: U.S. Equity Preview May 1, 2009
(BMRN US): The maker of treatments for rare genetic disorders reported first-quarter earnings excluding some items of 9 cents a share, beating the average analyst estimate for a loss of 4 cents. (CQB US): The owner of the namesake banana label reported first-quarter earnings excluding some items of 49 cents, surpassing the average analyst estimate by 73 percent. (Bloomberg -- US)
Simulated gene therapy Apr 30, 2009
If doctors could safely do this, they could treat or even cure diseases like cystic fibrosis, certain types of cancer, sickle cell anemia, and a number of rare genetic disorders. Safety is a primary concern when working with gene therapy. (EurekAlert!)
Mass. life science firms get $3.4m in state loans Apr 30, 2009
Seven early-stage life sciences companies, working in areas ranging from cancer drugs to treatments for spinal cord injuries to tests for genetic disorders, were awarded a total of $3. 4 million in loans yesterday under the state's $1 billion life sciences initiative. (Boston Globe)
Inbreeding Was Major Cause Of Fall Of Spanish Habsburg Dynasty Apr 17, 2009
Based on this clinical genetic knowledge and on information gathered by historians on the health of Charles II, Alvarez and colleagues speculate that the simultaneous occurrence of two different genetic disorders (combined pituitary hormone deficiency and distal renal tubular acidosis), determined by recessive alleles at two unlinked loci, could explain much of the complex clinical profile of this king, including his impotence/infertility, which led to the extinction of the dynasty. Journal... (Science Daily)
Gene therapy for muscular dystrophy shows promise beyond safety Apr 16, 2009
The findings, which have relevance to genetic disorders beyond muscular dystrophy as well as conditions in which muscles atrophy, were published online today in the Annals of Neurology. "We think this is an important milestone in establishing the successful use of gene therapy in muscular dystrophy," said Jerry Mendell, MD, director of the Center for Gene Therapy in The Research Institute at Nationwide Children's Hospital and the lead author of the study. (EurekAlert!)
Genzyme sues firm to block drug copy Apr 7, 2009
WASHINGTON - , the world's largest maker of drugs for rare genetic disorders, sued to block it from selling a generic version of the Renvela kidney medicine. Impax, based in Hayward, Calif. (Boston Globe)
Chandler animal lab brings jobs, protesters Apr 6, 2009
" It is unclear how many animals are used in research, but up to 100 million vertebrate animals a year worldwide are involved, according to the Nuffield Council on Bioethics. Animal activities Heiser-Wong, continuing the tour of the facility, takes her guest to the center of the building, far from the building's reflective glass exterior walls, where Covance houses its beagles and cynomolgus monkeys. The experimental drugs are all tested on either monkeys or dogs, depending on the study's design... (AZCentral -- News)
Genzyme acquires rights to Campath Apr 1, 2009
the Cambridge biotechnology giant best known for targeting rare genetic disorders like Pompe disease and Fabry disease, is increasing its investment in drugs to treat broader diseases such as cancer and multiple sclerosis. The company said it struck a multimillion dollar deal yesterday with Bayer HealthCare to acquire most of Bayer's rights to Campath, a cancer drug in advanced clinical trials to treat multiple sclerosis. (Boston Globe)
A splice of life Mar 28, 2009
Importantly, 15 to 20 percent of all human genetic disorders, including muscular dystrophy, are caused by defects in this genetic encoding process known as RNA splicing ... "In this process, the regions of our DNA encoding for protein are removed from non-encoding regions and brought togetherquite often in alternative arrangements. Defects in this process can have disasterous repercussions in the form of genetic disorders," said Pomeranz Krummel, adding that neuronal development can be... (EurekAlert!)
Lingering pain Mar 27, 2009
Study areas will include investigations looking at whether the toxic gases caused genetic disorders, low-birth weight, growth and development disorders, congenital malformation, retardation of genitalia; and reproductive functions will also be assessed. The issue of whether chromosomal abnormalities have resulted from exposure will be substantiated by a trans-generational study among those who were exposed, and unaffected people of Bhopal. (BBC News -- Health)
Screening Dogs For Inherited Health... Mar 25, 2009
The only difference with purebreds is that reputable breeders have their breeding stock tested clear of genetic disorders before the dog is used for breeding ... For a detailed list of many different breeds and the genetic disorders found in each one, the in Canada is an excellent resource. (Suite101.com)
IVF babies at risk of birth defects Mar 22, 2009
The research, carried out by scientists from the US Centres for Disease Control and Prevention in Atlanta, and based on 13,500 births and a further 5,000 control cases, also found IVF babies has an increased chance of rare genetic disorders such as Angelman syndrome and Beckwith-Wiedemann syndrome. HFEA experts believe parents should be told of the concerns associated with IVFalthough they emphasized that not all the risks are fully understood and more research is needed. (India Times, India)
Romania Weighs Decriminalizing Incest Mar 22, 2009
Moral or immoral, legal or illegal, the incest -- if permitted or just practiced -- eventually (and quite fast) would direct the mankind to the DEGENERATION via genetic disorders. People belonging to the communities and ethnicities that for generations marry only within themselves, already experience all horrible consequences of this practice, including death and genetic diseases I wouldn't wish to anybody who is protecting the incest for any sake, including the LIBERTY.. (CBS News)
DNA on the Loose: Next-Gen Blood Tests Tap Free-Floating Genetic Material Mar 19, 2009
Gender screening is also performed in Europe for families at high risk of passing on genetic disorders linked to the X chromosome. Bianchi says blood tests for Down's syndrome could be available in the near future. (Scientific American)
Genzyme sues Impax in patent fight Mar 18, 2009
WASHINGTON - , the world's largest maker of drugs for rare genetic disorders, sued for allegedly infringing a patent used for its Renagel kidney medicine. Impax has petitioned the Food and Drug Administration to approve a generic version of Renagel, violating Genzyme's patent, the company claimed in the lawsuit filed Friday in federal court in Baltimore. (Boston Globe)
