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)
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)
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)
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)
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)
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)
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)
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)
The extended family I never see Jan 2, 2008
I had to undergo a series of tests to ensure I had no sexually transmitted diseases; that my DNA didn't contain any commonly known genetic disorders, that my fertility levels were high enough and to confirm that my sperm were able to survive the freezing-and-thawing processes. I was also interviewed about my family and medical history by doctors and counsellors, and advised on the then laws pertaining to sperm donation and the possible outcomes and long-term scenarios such as a donor-conceived... (Sydney Morning Herald -- Australia)
Did she miss a chance to boost her chances? Dec 31, 2007
She was born on Oct. 9, 2003, three years before Ontario expanded its screening for rare genetic disorders from just two diseases to 27. At the time, Saskatchewan was the only province that tested newborns for her disease. (Globe and Mail)
Link Uncovered Between Variation In Humans With Extreme Body Mass And Abnormal Splicing Dec 30, 2007
"When a certain exon is added only to a fraction of the mRNA molecules and not the others, the mRNA molecules without the exon cannot support proper protein synthesis and the overall level of required protein is reduced," describes co-lead author Eddo Kim, suggesting that in addition to phenotypes attributable to non-synonymous SNPs, alterations in the processing of RNA due to synonymous SNPs could also contribute to phenotypic differences and genetic disorders. Kim suggests that it is difficult... (Science Daily)
New clinical trial results show how personalized medicine will alter treatment of genetic disorders Dec 27, 2007
Public release date: 26-Dec-2007. Contact: Jennifer Leischer. (EurekAlert!)
Premature baby units overcrowded Dec 20, 2007
One BBC article says this: British Pakistanis are 13 times more likely to have children with genetic disorders than the general population - they account for just over 3% of all births but have just under a third of all British children with such illnesses. (http://news. (Times Online)
Highly Promising Dutch Research Into Alzheimer's Disease and Parkinson's Disease Dec 17, 2007
About DNage B.V. DNage is a subsidiary of Pharming Group NV, a biotech company focusing on the development of innovative products for the treatment of genetic disorders and ageing diseases. Pharming's Market Authorization Application for lead product Rhucin(R) for treatment of acute attacks of Hereditary Angioedema is under review with the EMEA. The advanced technologies of Pharming include innovative platforms for the production of protein therapeutics, technology and processes for the... (PR Newswire)
South Korean scientists create glowing cats using modified gene Dec 16, 2007
"People with genetic disorders usually have to receive treatment throughout their lives that is very hard on them," Kato said. "If these results can help to make their lives easier, then I think it's a wonderful thing.". (North County Times)
Kong and the glowcats Dec 15, 2007
The Associated Press. December 14, 2007 at 8:47 AM EST. (Globe and Mail)
Top Scientists to Receive Prestigious Awards From the American Society of Hematology Dec 6, 2007
He also developed screening tests for the genetic disorders galactosemia and Gaucher disease. He is currently Professor and Chairman, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA. Dr. Beutler's award will be presented prior to the Plenary Scientific Session on Sunday, December 9, at 1:30 p.m. EST in Hall A1. (PR Newswire)
Slate offers a hand to Watson (plus a little Monday morning hearsay) Dec 3, 2007
com website, they can review a number of predetermined complex genetic disorders to assess his or her relative risk for developing maladies such as diabetes, myocardial infarction and even. In addition, you can check your ancestry to get an idea of the geographical distribution of their forefathers. (Nature News Service)
Centric partners on liver transplant home care Nov 29, 2007
Chesterfield-based Centric Health Resources is a nationwide organization serving the specialized needs of individuals with certain rare and chronic genetic disorders, along with their families, specialist physicians and health-care payers. Related Industry News. (St. Louis Business Journal, MO)
Gene tests alarm Down syndrome families Nov 25, 2007
Now, parents of Down syndrome children are calling for doctors and counselors to give a fuller, more nuanced view of life with Down and other genetic disorders so expectant parents have a broader understanding before they act. Underlying their stance is the fear that cutting-edge testing will lead to abuse in the future. (AZCentral -- News)
Playing doctors and nurses Nov 25, 2007
Kavalier anticipates DIY home testing for genetic disorders in the not-too-distant future. The technology is there,' he says. (Guardian Unlimited)
Homing in on the Silenced Gene Behind Mental Retardation Nov 16, 2007
"Human embryonic stem cells should not be considered only as sources in transplantation medicine; they can be used also to create models for human genetic disorders," says study co-author Nissim Benvenisty, a geneticist at The Hebrew University of Jerusalem. "This is the first example where we in this field learn something new about a human genetic disorder that we couldn't learn from the existing models.". (Nature News Service)
Stem cells model disease Nov 15, 2007
"Certainly, stem cell lines such as this will help science unravel the mechanisms associated with human genetic disorders, and hopefully lead to new therapeutic treatments and interventions in the future," said of Advanced Cell Technology in Los Angeles, CA, who was not involved in the research. Such an approach has been overshadowed by the focus on developing stem cells as treatments for various disorders, he noted. (The Scientist)
Proteins Pack Tighter In Crowded Native State Nov 15, 2007
20, 2007) Scientists know that a better understanding of how proteins bond could lead to more effective treatments for genetic disorders and other life-threatening conditions. Now, a pair of Florida State. (Science Daily)
Up from the ashes: A determined spirit guides Grozny Nov 15, 2007
There are few diagnostic facilities in the hospital, no specialists on genetic disorders. Doctors are lucky if they can find suture materials. (International Herald Tribune)
A determined spirit guides Grozny Nov 14, 2007
There are few diagnostic facilities in the hospital, no ultrasound machines, no specialists on genetic disorders. Doctors are lucky if they can find suture materials. (Boston Globe)
Exploring genetic differences in the new DNA age Nov 10, 2007
Jews are offered prenatal tests for genetic disorders rarely found in other ethnic groups. Such developments are providing some of the first tangible benefits of the genetic revolution. (International Herald Tribune)
More Regulation Urged For Genetic Testing Nov 7, 2007
These tests look for genetic disorders and are used for such things as screening unborn babies for disease, testing for inherited diseases in adults before symptoms begin, confirming disease diagnoses and helping people who may be susceptible to some ills plan lifestyle changes. According to the National Institutes of Health there are about 900 genetic tests available. (CBS News)
VIB and UZ-KU Leuven join forces and bring state-of-the-art technology to Flanders Nov 7, 2007
This is an essential asset as these DNA analyses hold the key to the decipherment and treatment of genetic disorders ... These differences characterise the diversity of people but they also hold the key to a higher risk for genetic disorders such as dementia, psychosis, diseases of the heart and blood vessels, and cancer. (EurekAlert! -- Business News)
Researchers Developing New Drug Delivery System To Brain Nov 6, 2007
5, 2007) Carnegie Mellon University's Stefan F. Zappe is using adult neural stem cells to develop a new stem cell-based drug delivery therapy that may ultimately help treat a variety of inherited genetic disorders like Hunter syndrome. See also. (Science Daily)
Too scared to have children Nov 6, 2007
"The proportion of people less willing or unwilling to have children is not in line with other genetic disorders. We know from studies into child-bearing among people at high risk of cancer, for example, where the lifetime risk for a gene mutation carrier can be 80 per cent or more, that attitudes to child-bearing are not affected in any significant way," Professor Meiser said. "Providing families with genetic risk information is important, but this study suggests that society as a whole needs... (Sydney Morning Herald -- Australia)
Urban kids with asthma need more frequent check-ups, Hopkins study suggests Nov 5, 2007
It has recognized Centers of Excellence in 20 pediatric subspecialties including cardiology, transplant, psychiatric illnesses and genetic disorders. For more information, please visit. (EurekAlert!)
Scientists Claim Success in Identifying Domestic Cat Genome Nov 3, 2007
by - November 1, 2007 - 0 comments. The road to advanced research for human beings seems to have opened up just a bit more, with scientists in the US claiming success in identifying the genome of the domestic cat. (The Money Times)
Carnegie Mellon researchers to develop new drug delivery system Nov 3, 2007
PITTSBURGH Carnegie Mellon Universitys Stefan F. Zappe is using adult neural stem cells to develop a new stem cell-based drug delivery therapy that may ultimately help treat a variety of inherited genetic disorders like Hunter syndrome. Zappe, an assistant professor of biomedical engineering at Carnegie Mellon, and his graduate student Sasha Bakhru, are creating genetically engineered adult neural stem cells for delivery to patients brains, where they will be programmed to produce an... (EurekAlert!)
WBU alum involved in important DNA research 11-01-2007 Nov 2, 2007
Sometimes I look at what patients are going through, and I look at their family history to know for myself what complications are associated with these genetic disorders. I get to see some pretty rare cases that only happen here at Mayo. (Plainview Daily Herald, TX)
Old drug offers new hope against disease Oct 29, 2007
Marfan syndrome is relatively common among inborn genetic disorders, seen once in every 5,000 live births, according to the National Marfan Foundation. Its severity varies enormously among patients, ranging from barely noticeable - some people don't even know they have it - to complete disability and early death. (Boston Globe)
Genetic Disorders Hit Amish Hard Oct 27, 2007
Centuries Of Intermarriage Make Rare Diseases More Likely. GEAGUA COUNTY, Ohio, June 8, 2005. (CBS News -- 60 minutes II)
Profit soars tenfold at Genzyme Corp. Oct 25, 2007
Genzyme Corp. of Cambridge said profit jumped tenfold as sales increased for its medicines for rare genetic disorders, some of the world's costliest drugs. The company gained 3 percent in New York trading. (Boston Globe)
Autumn Gives Rise to Rapid Butterfly Migration West from New York to California - "National Epidermolysis Bullosa Awareness Week" Campaign S Oct 22, 2007
EB is a group of genetic disorders characterized by exceptionally fragile skin and chronic, painful wounds and blisters caused by the slightest trauma, even normal day-to-day activities. This circumstance is caused by a missing or damaged protein that causes a breakdown between skin layers, resulting in skin that can slip off as easily as that of a ripe peach. (Yahoo News -- Press Releases)