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)
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)
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)
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)
Evaluation of Hearing Loss and Deaf... Mar 15, 2009
Other causes include, but are not limited to, abnormal growth of bone in the middle ear (otosclerosis), certain genetic disorders, and various factors harming a fetus before birth. Sensorineural hearing loss is frequently caused by aging, also known as presbycusis, in which the cochlea slowly degenerates. (Suite101.com)
First Look At Genetic Dynamics Of Inbreeding Depression Mar 14, 2009
Many potentially harmful recessive alleles are no longer masked by dominant alleles, so more genetic disorders arise. Similarly, offspring that inherit two identical alleles for some traits will also lose any advantages once conferred by overdominance. (Science Daily)
Children's, UC ready for stem cell boost Mar 10, 2009
We want to be able to use stem cells to treat fatal or life-threatening genetic disorders like we use drugs to treat other diseases. Reader Comments. (Cincinnati Business Courier, OH)
Genzyme sues Indian drug maker Mar 7, 2009
- , the world's largest maker of drugs for rare genetic disorders, sued Indian drug maker Lupin Ltd. for allegedly infringing four US patents for kidney medicine Renagel. Lupin is wrongly using the technology covered by patents awarded from 1996 to 2006 with its plans to market versions of Renagel tablets, Genzyme said in a complaint filed Thursday in federal court in Wilmington, Del. (Boston Globe)
FDA won't sign off on Genzyme plan yet Mar 3, 2009
the maker of treatments for rare genetic disorders, said it failed to win approval for Lumizyme, a version of its drug for Pompe disease made in larger batches. Genzyme must reach an agreement with the Food and Drug Administration for a post-approval study of the treatment, the Cambridge-based company said yesterday. (Boston Globe)
How heart handles anger predicts irregular beat Feb 26, 2009
But if it pans out, the finding could affect a huge population: About 100,000 defibrillators are implanted each year in people at risk of irregular heartbeats because of damage from a survived heart attack, genetic disorders and other conditions. Scientists are searching for ways to tell which patients most need the implants, and the anger spike may offer help. (Chippewa Falls Chippewa Herald, WI)
Genzyme on the hunt for new products Feb 24, 2009
Genzyme, the world's largest maker of drugs for rare genetic disorders, will seek opportunities to purchase "personalized drugs, highly specialized medicines where you can easily explain their value," Termeer said yesterday. Acquisitions made by the Cambridge-based biotechnology company will focus on individual products already tested in humans, Termeer said. (Boston Globe)
What are genetic risks for IVF children? Feb 19, 2009
For example, some studies indicate that there may be some abnormal patterns of gene expression associated with IVF and a possible increase in rare but devastating genetic disorders that appear to be directly linked to those unusual gene expression patterns ... Ginsburg, who is the medical director of in vitro fertilization at Brigham and Women's Hospital in Boston, says her center's consent forms mention that there might be an increased risk for certain rare genetic disorders. (International Herald Tribune)
Picture emerging on genetic risks of IVF Feb 17, 2009
For example, some studies indicate that there may be some abnormal patterns of gene expression associated with IVF and a possible increase in rare but devastating genetic disorders that appear to be directly linked to those unusual gene expression patterns ... Dr. Ginsburg, who is the medical director of in vitro fertilization at Brigham and Women's Hospital in Boston, says her center's consent forms mention that there might be an increased risk for certain rare genetic disorders. (International Herald Tribune -- Health)
Extra Copies Of A Gene Carry Extra Risk Feb 14, 2009
Orly Reiner s research is supported by the Nella and Leon Benoziyo Center for Neurological Diseases; the Kekst Family Center for Medical Genetics; the David and Fela Shapell Family Center for Genetic Disorders Research; the PW-Iris Foundation; and the PW- Jani. M Research Fund. (Science Daily)
Cystic Fibrosis And Muscular Dystrophy: New Findings Raise Questions About Identifying Experimental Drug Feb 13, 2009
In addition, nonsense mutations may affect a substantial portion of the approximately 25 million Americans suffering from other rare, genetic disorders. The enzyme that makes fireflies glow, called luciferase, is widely used in biomedical experiments and in high-throughput screening often utilized to discover drugs. (Science Daily)
Myozyme sales boost Genzyme profit Feb 12, 2009
the world's largest maker of drugs for rare genetic disorders, said fourth-quarter profit rose 9. 8 percent on sales of Myozyme for the rare genetic disorder Pompe disease. (Boston Globe)
Genetics podcast Feb 8, 2009
Consisting of concise and focused reviews on individual genetic disorders, the latest diagnostic criteria and management guidelines are provided in an easy-to-use format by leading authorities in the field. Conference Activities. (Nature News Service)
Kids with Heart Defects May Face Future Problems Feb 7, 2009
This may be because the defect has an "excellent prospect" of being corrected with surgery, and also because these children were less likely than kids with other types of heart defects to have genetic disorders, Landolt and his team suggest. When teachers rather than parents were asked about children's behavior and adjustment, they reported no difference between the children with heart disease and healthy controls, suggesting that "the children's difficulties are less apparent within the... (MEDLINEplus)
Dog cloning to be cheaper, says biotech firm Feb 7, 2009
It added the new technology can also help in studying treatments of genetic disorders in canines that have similarities to human illnesses including diabetes. "If we fully develop this technology, dog cloning will be much easier than now. We can reduce the cost for cloning," said Ra Jeongchan, the chief executive of Seoul-based RNL Bio. (MSNBC -- Health)
US drugmaker Genzyme Corp. to expand in Ireland, create 170 jobs Apr 1, 2008
Genzyme specializes in making drugs for use in fighting rare genetic disorders, kidney disease and cancer and helping organ-transplant recipients. It employs more than 10,000 people worldwide. (International Herald Tribune -- Sports)
Asians in U.S. using technology to have sons Apr 1, 2008
Family balancing discouraged by U.S. doctorsThe American College of Obstetricians and Gynecologists and the American Society of Reproductive Medicine say assisting patients in choosing the sex of their offspring to avoid serious sex-linked genetic disorders is ethical, but they discourage sex selection for personal and family reasons, such as family balancing. Nevertheless, while many countries prohibit sex selection techniques without a medical purpose, the United States does not. (MSNBC -- Health)
Boy, 6, battlescancer, raises$900 for hospital Mar 30, 2008
St. Jude's research focuses on cancers, acquired or inherited immune deficiencies, infectious disease and genetic disorders. Current research includes work on gene therapy, bone marrow transplant, chemotherapy, viruses and pediatric AIDS.. (Daytona Beach News Journal)
Cardinal to meet embryo experts Mar 29, 2008
----------------- ----------------- RELATED BBC SITES. Last Updated: Saturday, 29 March 2008, 04:53 GMT. (BBC News -- UK)
A Bone Marrow Disease With a Brighter Prognosis Mar 24, 2008
Finally, some genetic disorders have been linked to it. Symptoms vary depending on the type of blood cells in shortage. (Health-Finder)
Australian Charity Events Mar 24, 2008
Jeans for Genes Day aims to raise awareness of genetic disorders. Fundraising benefits the Children s Medical Research Institute to assist with genetic research projects and support for families of children born with genetic disorders. (Suite101.com)
Home genetic test accuracy can vary Mar 23, 2008
Offit says once self-ordered test results are relayed, individuals receiving the results may not also receive counseling regarding appropriate medical interventions for prevention and early detection of genetic disorders. Some states, such as New York, require genetic testing for disease risk must be requested by a licensed healthcare professional and must be performed in an approved clinical laboratory, Offit says. (United Press International)
Genomic Medicine Coming: Health Professionals, Public Unprepared Mar 21, 2008
"The greatest public health benefit of advances in understanding the human genome will likely occur as genomic medicine expands from its focus from rare genetic disorders to inclusion of more common chronic diseases, such as coronary heart disease, stroke, diabetes mellitus, and cancer," the authors provide as background information in the article. "With genomics discoveries relating to common chronic diseases, numerous genetic tests may emerge that hold promise for significant changes in the... (Science Daily)
Handheld DNA Detector Mar 17, 2008
Clinicians and medical researchers too could use it to diagnose genetic disorders and study problems in genetics. Such a sensor might also be used to spot the weapons of the bioterrorist or in criminal forensic investigations. (Science Daily)
Structure Reveals How Cells 'Sugar-coat' Proteins Mar 17, 2008
Failure of glycosylation, as the "sugar-coating" process is known, can lead to a variety of genetic disorders characterized by neurological problems including seizures and stroke-like episodes, feeding disorders, and possibly even some forms of muscular dystrophy. "We studied one enzyme involved in glycosylation, the one that recognizes the protein sequence and adds the sugar chains to the protein as it is being synthesized by the cell," said William J. Lennarz of Stony Brook University, a... (Science Daily)
FCC overlooks diversity issue Mar 9, 2008
The myth of men being able to father children well into their 80s must give way to realities such as: chromosomal damage to sperm as men age causing birth defects such as Down Syndrome, undiagnosed hormonal conditions causing testicular failure, genetic disorders like Klinefelter's Syndrome, and many more that affect men's reproductive health. A man's biological clock ticks just as loudly as a woman's and the sooner men realize that they too must get serious at a younger age, if they want to... (Boston Globe)
Acute Pulmonary Embolism Mar 6, 2008
Please for full text and personal services. Volume 358:1037-1052. (New England Journal of Medicine)
VIDEO from Medialink and Shire plc: Rare Diseases Must Be Top of the Health Agenda Feb 29, 2008
Fabry disease is one of a group of 45 similar genetic disorders, known collectively as lysosomal storage disorders. European Rare Disease Day is designed to improve the understanding, care and treatment of these kinds of diseases to improve the lives of those affected by them. (PR Newswire)
Identical twins actually different Feb 18, 2008
The researchers said the information could result in quicker diagnosis for genetic disorders. 2008 United Press International. (United Press International)
Surgery Improves Quality Of Life For Children With Sleep Apnea, Study Suggests Feb 15, 2008
Obese children and children with Down's syndrome or other genetic disorders that affect the craniofacial anatomy were excluded from the study because the rate of OSA is known to be higher. The study was published in a recent issue of The Laryngoscope. (Science Daily)
Carrier Comair ramping up summer service at Logan Feb 14, 2008
Genzyme posts profit as sales of Myozyme double , the world's largest maker of drugs for rare genetic disorders, had a fourth-quarter profit as sales of Myozyme for Pompe disease doubled. Net income for the quarter climbed to $78. (Boston Globe)
Inbreeding 'causing rise in birth defects' Feb 10, 2008
The Birmingham Primary Care Trust has estimated that one in 10 children born to first-cousin marriages either dies in infancy or suffers serious disability as a result of recessive genetic disorders. Advertiser Links. (Independent)
Forever Hungry: Disease's Insatiable Curse Feb 7, 2008
In the world of genetic disorders, Prader-Willi is a relative newcomer. The syndrome was first identified in 1956, though doctors at the time had little clue as to how it arose. (ABC News)
Insception Biosciences Begins Human Clinical Trials of Stem Cell Treatment That Could Replace Bone Marrow Transplants Feb 6, 2008
Cord blood, which offers a rich source of blood stem cells, is now clinically accepted as a viable alternative to bone marrow or peripheral blood as sources of stem cells for transplantation and treatment of a variety of blood, cancer and genetic disorders. To date, one of the barriers to the widespread use of cord blood has been the low number of stem cells in cord blood samples. (Canada Newswire)
Inherited Individual Variations Influence Patterns Of Gene Shuffling Feb 5, 2008
Errors in this recombination process during the production of sperm or egg cells underlie a variety of chromosomal abnormalities and can cause deletions of regions of the genome, miscarriage, or genetic disorders such as Down syndrome. The research team focused on the Hutterites, a genetically similar population of European immigrants who settled in the Dakotas in the 19th century and have maintained a communal agricultural lifestyle. (Science Daily)
Genetic Variant Impairs Glycogen Synthesis Feb 4, 2008
Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised, but rare. See also. (Science Daily)
* FEATURE: Hundreds of Puerto Rican albinos live in fear of deadly pulmonary fibrosis Feb 3, 2008
Various genetic disorders can lead to albinism, defined by a lack of pigmentation in eyes, skin and hair. But Type 1 of the so-called Hermansky-Pudlak Syndrome is particularly deadly, said Thomas Markello, who works at the medical genetics branch of the National Institutes of Health. (Taipei Times, Taiwan -- World)
Puerto Rico Home of Deadly Syndrome Feb 1, 2008
Various genetic disorders can lead to albinism, defined by a lack of pigmentation in eyes, skin and hair. But Type 1 of the so-called Hermansky-Pudlak Syndrome is particularly deadly, said Dr. Thomas Markello, who works at the medical genetics branch of the National Institutes of Health. (Longview Daily News, WA)
Pharmaceutical breakthrough may make a range of drugs cheaper and more available Jan 31, 2008
The advance is immediately valuable for pharmaceutical development and biology research, but a similar approach could be used to bolster the food supply by eliminating genetic disorders in animals over several generations. It is also possible that once perfected, this technique could eliminate disease genes in humans over several generations, assuming ethical concerns can be resolved adequately. (EurekAlert!)
Cats' Family Tree Rooted In Fertile Crescent, Study Confirms Jan 30, 2008
Leslie Lyons, an authority on cat genetics and principal investigator on this study, said: "More than 200 genetic disorders have been identified in modern cats, and many are found in pure breeds. We hope that cat breeders will use the genetic information uncovered by this study to develop efficient breed-management plans and avoid introducing genetically linked health problems into their breeds.". History of the modern cat. (Science Daily)
Fight against PKD is a family affair in the Upper County Jan 24, 2008
Parents with the disease, one of the most common life-threatening genetic disorders, have a 50-50 chance of passing it on to their children. Call it a family affair. (Ellensburg Daily Record, WA)
Youngest boy home from transplant Jan 23, 2008
XLP is one of the world's rarest fatal genetic disorders and is believed to affect only about 100 families. Dr Paul Veys, clinical lead for bone marrow transplants at Great Ormond Street Hospital, said: "Never before have we successfully transplanted four members of the same family. "This is certainly a first for our hospital and very possibly an international first. (BBC News)
Four Brothers Stricken With Rare, Often Fatal Disease Jan 23, 2008
It is one of the rarest fatal genetic disorders in the world and is believed to affect only about 100 families, according to BBC.. Luke just returned home after a two-month stay over Christmas at Great Ormond Street Hospital in London, where he was undergoing a second bone marrow transplant. (Fox News)
Unintentional Introduction of OCD to Mice Offers New Insight into Disorder Jan 18, 2008
"The field urgently needs models of complex genetic disorders. The obsessive compulsive-spectrum disorders have been particularly difficult to study because of the complexity and variety of symptoms and syndromes and apparent high incidence of their co-morbidity.". Steven Hyman, a neurobiologist at Harvard Medical School, concurs that the model may be incomplete, but notes that this is a solid first step. (Scientific American)
Genetics pioneer honored Jan 18, 2008
In the early 1960s, McKusick began studying genetic disorders among the Amish, including a form of dwarfism that is now called McKusick Type Metaphyseal Chondrodysplasia ... McKusick's methods of analyzing genetic disorders of the Amish became a model for studying inherited conditions in isolated communities elsewhere. (SunSpot.net)
3 U.S. scientists to be awarded "Japan Prize" Jan 17, 2008
The 86-year-old scholar has spent over half a century compiling knowledge on medical genetics and advocating the importance of the formulation of a genetic map for genetic disorders. The Japan Prize, which covers various fields of science and technology, was established in 1983 to honor scientists and researchers from around the world who are recognized to have made original and outstanding achievements in science and technology and who have made substantial contributions to the advancement of... (Xinhuanet, China)
American Scientists Named as Laureates of the 2008 (24th) Japan Prize Jan 17, 2008
Dr. Victor A. McKusick, recipient of the current fiscal year's Japan Prize in the category of "Medical Genomics and Genetic", has spent over half a century compiling related knowledge, and advocating the importance of the formulation of a genomic map for genetic disorders. Today, researchers and clinicians around the world are sharing the fruits of Dr. McKusick's labors which have become indispensable to the world of genetic medicine. (PR Newswire)
Official: Cord blood supplies safe Jan 16, 2008
Umbilical cord blood can be used as a source of stem cells for the treatment of blood diseases and genetic disorders. Wang Tong, spokesman for the bureau, said the agency, together with other health departments, has been carrying out close supervision and inspection of the cord blood supplies. (Xinhuanet, China)
Researchers move 2 steps closer to understanding genetic underpinnings of autism Jan 11, 2008
The Clinic for Special Children was established in 1989 to provide early diagnosis, affordable laboratory services, and comprehensive medical and nutritional care for Old Order Amish and Mennonite children that suffer from genetic disorders. The clinic mission encompasses four aims: 1) Make high-quality medical care for special children accessible, affordable, and culturally effective; 2) Develop comprehensive methods of newborn screening and follow-up care for genetic disorders prevalent among... (EurekAlert!)
DNA doubtsPublic gets to voice opinion on ethics of police database Jan 10, 2008
DNA PROFILING Deoxyribonucleic acid (DNA) is found in virtually all cells Only a tiny sample of saliva, blood, semen, etc, is needed for testing At the molecule's core is a long sequence of chemical units, which is checked for a gender and 10 other 'markers' Probability of a chance match is less than one in one billion A match may be with a specific individual or hint at a relative Profiles can provide indications of ethnic origin They do not point to genetic disorders or susceptibilities.... (BBC News -- Science)
Read more... Jan 10, 2008
Research conducted in the building will span the medical spectrum, including studies on cancer, genetic disorders, neurodegenerative diseases, diabetes, bone and muscle development, and immune system disorders. Thanks to a dedicated suite of biohazard laboratories, scientists also will be able to research viruses and lower-grade infectious diseases, such as influenza and hepatitis. (PNN Online)
Genzyme 'bullish' on future growth Jan 9, 2008
SAN FRANCISCO - , the maker of treatments for rare genetic disorders, said fourth-quarter revenue climbed 21 percent to $1. 04 billion, beating analysts' estimates. (Boston Globe)
Woman whose family history was overlooked died while giving birth Jan 9, 2008
I ve read that there is a greater risk of genetic disorders if the father is older. How great is this risk. (Times Online)
Luminex Shares Fly On Flu Test Jan 4, 2008
7 billion, as doctors adopt the tests to rapidly diagnose disease and search for genetic disorders. There is a well-trod path from research to clinical lab for processing technologies, says John L. Sullivan, analyst with Leerink Swann. (Forbes)
