Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry the defective gene.
via [ Riskgen ]
A team at the Broad Institute, a Harvard-M.I.T. collaborative for genomics research, has devised a way of screening for drugs that attack cancer stem cells but leave ordinary cells unharmed.
» NY Times [ Contribute: submit link / submit article ]
A drug that can selectively target and kill the stem cells that drive the growth of tumors has been identified for the first time by scientists who searched more than 16,000 compounds to find it.
Researchers at Massachusetts Institute of Technology and the Broad Institute looked for compounds that could destroy the stem cells, which often resist conventional cancer treatment. One, salinomycin, cut the number of stem cells at least 100 times more than did Bristol-Myers Squibb Co.’s Taxol, a common chemotherapy medicine, according to a report on the findings published today in the journal Cell.
» Bloomberg [ Contribute: submit link / submit article ]
"It's true that influenza viruses are unpredictable, so it does call for a certain degree of caution. But one of the extraordinary features of this influenza -- and the whole influenza saga -- is that there are some people who make predictions year after year, and they get worse and worse. None of them so far have come about, and these people are still there making these predictions. For example, what happened with the bird flu, which was supposed to kill us all? Nothing. But that doesn't stop these people from always making their predictions. Sometimes you get the feeling that there is a whole industry almost waiting for a pandemic to occur."
» Der Spiegel [ Contribute: submit link / submit article ]
An IARC Working Group has classified UV-emitting tanning devices as “carcinogenic to humans”. There is no doubt using a sunbed or sunlamp will raise the risk of skin cancer.
Combined analysis of over 20 epidemiological studies shows that the risk of cutaneous melanoma is increased by 75% when the use of tanning devices starts before age 30. There is also sufficient evidence of an increased risk of ocular melanoma associated with the use of tanning devices. Studies in experimental animals support these conclusions and demonstrate that ultraviolet radiation (UVA, UVB, and UVC) is carcinogenic to humans.
» IARC Working Group [ Contribute: submit link / submit article ]
Personal genomics is a branch of genomics where individual genomes are genotyped and analyzed using bioinformatics tools. It is also related to traditional population genetics. The genotyping stage can have many different experimental approaches including single nucleotide polymorphism (SNP) chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, there are many bioinformatics analysis tools that can compare individual genomes and find disease association of the genes and loci. The most important aspect of personal genomics is that it leads to the personal medicine where patients can take genotype specific drugs for medical treatments.
Personal genomics is not a single individual's vision or invention. Many researchers for decades anticipated this biological branch will eventually arrive with minimum cost of genotyping. Due to the advent of cheap and fast sequencers, full genome personal genomics is becoming a reality. However, there have been active early proponents of personal genomics projects such as George Church in Harvard Medical School.
Genomics used to mean academic research on consensus genomes which have been assembled from many different individuals of a particular species. The personal genomics changes this into customized bioinformatic discovery on individuals.
Use of personal genomics in predictive medicine
Predictive medicine is the use of the information produced by personal genomics techniques when deciding what medical treatments are appropriate for a particular individual.
An example of the use of predictive medicine is in selecting which drug to prescribe to a patient. The drug should be chosen to maximize the probability of obtaining the desired result in the patient and minimizing the probability that the patient will experience side effects.
The probabilities of obtaining the desired result and of experiencing side effects are both dependent on information that can be obtained by analysis of the patient’s genome.
Genomics is itself a rapidly developing field. As new techniques are developed in genomics it is likely that some of them will be applied in personal genomics and predictive medicine.
Personal Genome Project
» personalgenomes.org
23andMe
Sells mail order kits for SNP genotyping. The $399 kit contains everything a patient needs to take their own saliva sample. The patient then mails the sample to 23andMe who carry out microarray analysis on it. This provides genotype information for about 600,000 SNPs. This information is used to estimate the genetic risk of the patient for over 80 diseases as well as ancestry analyses.
» 23andme.com
Illumina
Focused on commercializing full genome sequencing but are not involved in the predictive medicine (interpretative) side.
» everygenome.com
deCODE Genetics
Charges $985 to carry out genotyping of approximately 1 million SNPs and provides risk estimates for 29 diseases.
» decodeme.com
Navigenics
began offering SNP-based genomic risk assessments as of April 2008. Navigenics is medically focused and emphasizes a clinician's and genetic counselor's role in interpreting results. Currently over 20 disease are offered for $2500. Navigenics uses Affymetrix Genome-Wide Human SNP Array 6.0 , which genotypes 900,000 SNPs.
» navigenics.com
Knome
Provides full genome (98% genome) sequencing services for $99,500.
» knome.com
Complete Genomics
» completegenomicsinc.com
Sequenom Center for Molecular Medicine
» scmmlab.com
A common genetic variation on chromosome 9p21 is linked to a substantial increase in risk for heart attack, according to a new international research study. The findings are published in the online edition of Science, and will appear in an upcoming printed edition of the journal.
Researchers found individuals with the variation have a 1.64-fold greater risk of suffering a heart attack (myocardial infarction) and a 2.02-fold greater risk of suffering a heart attack early in life (before age 50 for men and before age 60 for women) than those without the variation. Approximately 21 percent of individuals of European descent carry two copies of the genetic variation (one from each parent), found on chromosome 9p21. The research project was led by the Icelandic genomics company deCODE Genetics, along with U.S. researchers at Emory University School of Medicine, Duke University, and the University of Pennsylvania.
» Emory UniversityAdverse drug reactions (ADRs) result in hundreds of deaths a year in the U.S. Whether these are reactions are from allergies, existing conditions, over-the-counter interactions or multiple drug interactions, is not quite known. And data for 2005 and 2006 is not yet available to help fill in the picture.
People with a family history of pancreatic cancer now have a way to predict accurately their chance of carrying a gene that causes the hereditary form of the disease, and their lifetime risk of developing it.
Researchers at Johns Hopkins Kimmel Cancer Center have developed a computer software tool to help determine who would most benefit from early screening for the disease. Scientists estimate that inherited genes cause 10 per cent of aggressive and fatal cases of the disease.
He begins with 'You, or someone you love, may die because of a gene patent that should never have been granted in the first place. Sound far-fetched? Unfortunately, it's only too real.' From there, he moves on to use logic, statistics, and his way with words to make his point. Arguing against the high costs of gene therapies thanks to related patents, he eventually offers hope that one day legislation will de-incentivize the hoarding of scientific knowledge. As he points out: 'When SARS was spreading across the globe, medical researchers hesitated to study it — because of patent concerns. There is no clearer indication that gene patents block innovation, inhibit research and put us all at risk.
A provocative review paper published this month has raised questions about the aggressive cholesterol-lowering recommendations made two years ago by a government panel.
The panel, the National Cholesterol Education Program, urged patients at risk for heart disease to reduce sharply their harmful LDL cholesterol and to try to reach specific, very low levels. Though the authors of the new paper, published in the Oct. 3 issue of Annals of Internal Medicine, endorse the use of cholesterol-lowering statins, they say there is not enough solid scientific evidence to support the target numbers for LDL cholesterol set forth by the government panel.
The authors’ argument challenges mainstream medical thinking and the consensus among most cardiologists that the lower the cholesterol is, the better.
Via: New York Times
Via: Annals of Internal Medicine
Continue reading "Value of Cholesterol Targets Is Disputed" »
Before you check into a hospital, it may be wise to check out the hospital's quality. That's because treatment outcomes at U.S. hospitals vary widely, depending on which state, city or individual hospital provides the care, a new report finds.
The report, HealthGrades Hospital Quality in America Study, found that patients have a 69 percent lower risk of dying at "5-star" hospitals compared with "1-star" institutions.
Via: Forbes
[PDF] The Ninth Annual HealthGrades Hospital Quality in America Study
Dietary pattern analysis has recently received growing attention in relation to many diseases because individuals do not consume foods or nutrients in isolation but rather as components of their daily diet.
Via: USA Today
[PDF] Mediterranean Diet, Alzheimer Disease, and Vascular Mediation
Sermo Inc., founded by a surgical resident-turned-entrepreneur and backed by $3 million of venture capital, is promoting the website, sermo.com, as a novel Internet community. It's a password-protected private forum where raw postings by doctors can be viewed, for a fee, by Wall Street investment firms.
With its debut two weeks ago, the Sermo site generated debate by prominently featuring postings from several doctors saying that Pfizer Inc.'s cholesterol-fighter Lipitor induces vivid and repeated nightmares in some patients as well as a posting by one doctor that said the diabetes drug Byetta, marketed jointly by Amylin Pharmaceuticals and Eli Lilly and Co. , was associated with "sudden death" in 50 patients.
Via: Boston Globe
Via: Sermo
A randomized controlled trial, in which patients were randomly assigned to receive either the treatment or a placebo, dispelled long-held beliefs. Such trials are the cornerstone of "evidence-based medicine," which has galvanized doctors perhaps more than any other subject.
Critics condemn evidence-based medicine as "cookbook medicine" that devalues the doctor's experience and the patient's preference. Proponents argue that evidence from randomized controlled trials has stanched the flow of private and public dollars for useless or even harmful treatments. More important, they say, the information has saved countless lives.
Both sides agree on one point: Keeping up with the latest evidence is virtually impossible.
Via: USA Today "In medicine, evidence can be confusing"
A newly developed genetic "roadmap" promises to streamline the drug discovery process. Called the Connectivity Map, this public database matches drug compounds with diseased cells and the processes occurring within them.
"The reason it's so difficult to find those disease and drug connections is that the languages in which they are conventionally described are very different," says Justin Lamb, senior scientist at the Broad Institute in Cambridge, MA. "A physician would describe a disease in terms of its physical symptoms, whereas a chemist would describe drug actions in terms of binding that chemical to a particular protein." The researchers want to bridge that gap using a common language: gene-expression signatures.
Via: MIT Technology Review
The UBS Global Life Sciences Conference opens today at the Grand Hyatt in New York City and runs through Thursday, September 28. The Conference will feature presentations by more than 340 public and private companies representing biotechnology, medical device manufacturers, pharmaceuticals and specialty pharmaceutical.
The annual UBS Global Life Sciences Conference is among the largest health care investor conferences in the world. Senior executives from the leading pharmaceutical, biotechnology and medical technology companies will provide their insight and outlook on the global life sciences industry. More than 3,500 people are expected to attend.
Continue reading "UBS Global Life Sciences Conference Opens in New York" »
A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects:
Genetic Counseling
Genetic counseling generally refers to prenatal counseling done when a genetic condition is suspected in a pregnancy. Genetic counseling can occur before conception (i.e. when one or two of the parents are carriers of a certain trait), during pregnancy (i.e. if an abnormality is noted on an ultrasound or if the woman will be over 35 at delivery), after birth (if a birth defect is seen), during childhood (i.e. if the child has developmental delay), or even adulthood (for adult onset genetic conditions such as Huntington's disease or hereditary cancer syndromes).
Single Gene Disorders
A number of genetic disorders are due to the change of a single gene, resulting in an enzyme or other protein not being produced or having altered functionality, they are called monogenic disorders. The change can be trivial and relatively harmless in its effects, such as color blindness, or lethal such as Tay-Sachs. Other disorders, though harmful to those afflicted with them, appear to offer some advantage to carriers; as in carriers of sickle cell anemia and thalassemia appearing to have enhanced resistance to malaria. Several hereditary diseases are sex-linked, meaning that they afflict one sex much more common than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.
Multifactoral and polygenic disorders
Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.
Examples of polygenic disorders in humans include:
Chromosomal disorders
Changes that affect entire chromosomes or segments of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and alter the proteins made by those genes. Conditions caused by a change in the number or structure of chromosomes are known as chromosomal disorders.
Some chromosomal conditions are caused by changes in the number of chromosomes, called aneuploidy. These changes are not inherited, but occur as random events during the formation of reproductive cells (ova and sperm cells). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, a reproductive cell may accidentally gain or lose one copy of a chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra (trisomy) or missing chromosome (monosomy) in each of the body’s cells.
Chromosomal disorders can also be caused by changes in chromosome structure. These changes are caused by the breakage and reunion of chromosome segments when an egg or sperm cell is formed or in early fetal development. Pieces of DNA can be rearranged within one chromosome, or transferred between two or more chromosomes. The effects of structural changes depend on their size and location. Many different structural changes are possible; some cause medical problems, while others may have no effect on a person’s health.
Although it is possible to inherit some types of chromosomal abnormalities, most chromosomal disorders are not passed from one generation to the next.
Riskgen (tm) dot com / Bringing Risk Applications into the Home.
• Predictive Intelligence
• Genetic Health Healthcare
Riskgen (tm)
