Aug 31, 2009
At the tune of 4.5 Million British Pounds!
This may work with CGCs, oh wait, they don't do much of anything in the UK system.
What about clinical geneticists?
Ok, scientists it is......
So I can just see it now.
A busy NHS practice, patients out the door, flu shot here, flu shot there and in rolls the "Scientist"
Clinician-"Oh hi, you must be the genetics guy sent from the government. Have a seat, I'll be right with you"
4 hours later
Scientist-Sitting nicely, waiting
Clinician-"Ok, lets chat over lunch"
Scientist-"Glad to be here, Let's talk about what a chromosome is"
Clinician-Scarfing down a sandwich "Ok, that was great, gotta go. I am double booked. See you in a few"
4 hours later
Scientist-Sitting Nicely, waiting
Clinician-"Sorry about that, I had a sickie and then the crazy lady....G-d where did the time go?"
Scientist-"See you tomorrow?"
Clinician-"You bet, I feel better prepared already"
As nice as this one is, I have already tried it with a clinical geneticist who actually can create billable events and see patients........ I am not so certain that going to the doctors will help as much as being on their iPhone or on a hotline.......
Aug 29, 2009
Genetic Alliance is now accepting applications on a rolling basis for theirAdvocates Partnership Program. Successful applicants will have meeting registration fees waived plus be reimbursed for $250 in meeting-related fees, including transportation, hotel room, or airfare. Genetic Alliance will also arrange exclusive daily briefings.
The two meetings applicants can attend are:
American Society of Human Genetics Annual Meeting
October 20-24, Honolulu, Hawaii
National Society of Genetic Counselors Annual Education Conference
November 13-15, Atlanta, Georgia
Applicants are selected based on their responses to the following questions (for the ASHG meeting):
- What do you hope to gain from participating in the American Society of Human Genetics Annual Meeting? The Partnership Program?
- What are the main topics in the 2009 ASHG meeting program that interest you, and how will they benefit the work you are engaged in?
- What challenges do your organization and its members face with regard to research?
- What are the opportunities for your organization and its members in emerging research?
- Please describe the ways that genetics professionals are currently involved in your organization, or how you would like to involve them in the future.
Sounds like a fantastic opportunity especially for those who are based in the city where the meetings are going to be held this year. For more information and application forms, go tohttp://www.geneticalliance.org/advocates.opportunities.
Aug 27, 2009
Il trattamento farmacologico e quello chirurgico fino a pochi anni fa rappresentavano l'unica strategia terapeutica. Oggi la medicina rigenerativa offre una valida alternativa ai tradizionali metodi di cura. A evidenziarlo i risultati di uno studio condotto dall'Istituto di neurobiologia e medicina molecolare del Consiglio nazionale delle ricerche di Roma(Inmm-Cnr), insieme all'Istituto superiore prevenzione e sicurezza sul lavoro (Ispesl) e all'Università di Roma La Sapienza.
"Il nostro lavoro ha dimostrato che è possibile agire sulla crescita e sul differenziamento delle cellule - spiegano Settimio Grimaldi e Antonella Lisi dell'Inmm-Cnr - attraverso minime manipolazioni in vitro, esponendole a campi magnetici in grado di indurre variazioni intracellulari nella concentrazione dello ione calcio e soprattutto senza dover ricorrere a trattamenti chimici, farmacologici o genetici".
La tecnica consente, infatti, di isolare e coltivare in vitro le cellule staminali cardiacheendogene o adulte, a partire da campioni di biopsie atriali e/o ventricolari, risolvendo così tutti quei problemi collegati al numero di cellule sufficiente per consentire iltrapianto.
Nell'ambito di questa ricerca è stato utilizzato un precedente brevetto Ispesl-Cnr (WO/20077004073A2) per la coltura, la crescita e il differenziamento delle cellule staminali adulte, rendendone possibile l'utilizzo anche nella medicina rigenerativa. "Il vantaggio offerto da questo brevetto sta nel raggiungimento in un tempo breve - continuano i ricercatori - di un aumento sia della proliferazione sia del differenziamento cellulare. Infatti è possibile ottenere, dopo pochi giorni di trattamento, un adeguato numero di cellule staminali che esprimono i marcatori del differenziamento cardiaco. Le cellule così differenziate, se trapiantate nel cuore danneggiato, possono ridurre i danni provocati dall'infarto. Inoltre il trapianto può essere anche di tipo autologo: le cellule staminali possono essere prelevate direttamente dal paziente per poi reimpiantarle successivamente, senza l'intervento di un donatore esterno, ovviando così a problematiche legate al rigetto".
Le malattie cardiovascolari restano la principale causa di morte nel nostro paese con il 44% della totalità dei decessi: al primo posto la cardiopatia ischemica con il 28% e al terzo gli accidenti cerebrovascolari con il 13%, subito dopo i tumori. Eventi che, quando non sono letali, rappresentano un'importante causa di disabilità, con ricaduta diretta sia sul malato che sulla famiglia e l'intera comunità.
"Ogni anno - conclude Grimaldi - si spopola una città per le malattie del cuore. E, chi sopravvive a un attacco cardiaco diventa comunque un malato cronico. Il 23,5% della spesa farmaceutica italiana, pari all'1,34% del prodotto interno lordo, e' destinata a farmaci per il sistema cardiovascolare secondo la Relazione sullo stato sanitario del Paese 2000".
I risultati della ricerca sono stati pubblicati su Cardiovascular Research, rivista scientifica internazionale dell'Oxford Journal, nell'articolo 'Differentiation of human adult cardiac stem cells exposed to extremely low-frequency electromagnetic fields'. In futuro gli autori si propongono di validare il sistema anche sulle cellule staminali di diversa origine tissutale.
Aug 25, 2009
Gli effetti benefici sul cuore per i fumatori che riescono ad abbandonare il fumo sono immediati.
Sono queste le conclusioni alle quali sono arrivati alcuni ricercatori del Feinstein Institute for Medical Research di New York che hanno pubblicato i risultati di una loro ricerca sulla rivista Chest. I ricercatori hanno monitorato l'evoluzione di alcuni biomarcatori caratteristici dei disturbi cardiovascolari in un gruppo di donne che stava tentando di smettere di fumare.
I risultati hanno evidenziato che, nelle donne che avevano effettivamente smesso di fumare, c'è stata una 'considerevole' riduzione di tutti i biomarcatori che monitoravano il rischio di malattie cardiovascolari e anche di tumori.
Aug 23, 2009
Scoperto un nuovo indicatore per prevedere la prognosi dell'attacco di cuore. Il rapporto tra albumina e creatina presenti nelle urine, infatti, permetterebbe di avere molte indicazioni sulla probabile progressione dell'attacco. Lo hanno scoperto i ricercatori dell'Università di Glasgow (Gran Bretagna), che hanno pubblicato il loro studio sulla rivista Lancet.
"Un incremento della secrezione della proteina albumina nelle urine è un fattore consolidato di rischio di mortalità e attacchi cardiaci", ha detto John JV McMurray del British Heart Foundation Cardiovascular Research Centre, a capo dello studio. "Abbiamo scoperto che il rapporto tra albumina e creatina (UACR) permette di prevedere il decorso di un attacco di cuore".
Per i ricercatori, l'UACR è un sistema di prognosi semplice ma efficace. "E' possibile effettuarlo con facilità", ha concluso McMurray. "Il suo valore per le previsioni cliniche è di grande interesse per medici e pazienti".
Data pubblicazione 14/08/2009 0.00.00Data ultima modifica 14/08/2009 12.39.00
Aug 21, 2009
Please take a look at the table of contents:
- News and Information on Weight Loss
- Weight Loss in the Blogosphere
- Weight Loss Podcasts and Interviews
- Weight Loss Community Sites, FaceBook Groups and Resources
- Microblogging: Twitter and Friendfeed
- Weight Loss Wikis
- Weight Loss Videos, animations and videocasts
- Mobile Applications
- Social Bookmarking
- Medical Search Engines
- Slideshows about Weight Loss
Aug 19, 2009
Aug 17, 2009
One of the coolest places in Singapore – Biopolis, centre for biomedical sciences in Asia.
Aug 15, 2009
Cancer risk is complex. Cancer is so common that we all probably know someone whose life has been affected by one form of cancer or another. A lot of us probably know people who seem to have cancer "running in the family". Cancer can occur in three main ways:
- Sporadic cancers - these are cancers that occur by chance in individuals who have no known genetic risk factors and no significant family history. Approximately 60% of cancers are sporadic.
- Familial cancers - these are cancers caused by variants in multiple genes and the environment all working together. In this case, each genetic variant causes a slight increase in risk. The overall risk of developing cancer depends on the number of cancer risk genetic variants that a person inherits and what environmental factors interact with those genes. Although these cancers appear to cluster in families, they don’t follow the typical rules of inheritance.
- Hereditary cancers - these are cancers that are associated with a change in a single cancer susceptibility gene (like BRCA1 or BRCA2). These genes account for a very small percentage of all cancers. In fact, only 5-10% of breast and colon cancer cases are caused by changes in a single gene. Although everyone who carries a change in a cancer susceptibility gene does not get cancer, the risk is increased greatly, usually to 50% or higher. These types of genetic changes are passed on in an autosomal dominant inheritance pattern in families. This means that each child of an individual that carries a gene change in a hereditary cancer susceptibility gene has a 50% chance of inheriting the gene change.
Many people mistakenly think that the risk of cancer is always passed on through families as a single "cancer gene". However, like other complex diseases, changes in many genes that each plays a role in the development of cancer are much more likely to be the cause of familial cancer than a change in a single gene.
The testing that is provided as part of participation in the Coriell Personalized Medicine Collaborative™ study will look at gene changes that contribute to an individual's risk of cancer but WILL NOT look for single genes, such as BRCA1 or BRCA2, known to cause hereditary breast and ovarian cancers or other genes known to cause other hereditary cancer syndromes. If you believe you are at risk of a hereditary cancer syndrome please discuss this with your doctor or a genetic counselor.
nheriting a "cancer gene" does NOT mean you will get cancer
Having a genetic variant associated with cancer does NOT mean that you will definitely get cancer. A genetic variant associated with cancer is simply another risk factor. Just as non-genetic risk factors like smoking or diet impact your overall cancer risk, genetic variants also influence your risk of developing cancer. Knowing that you have a genetic risk and understanding what it means may motivate you to make preventive lifestyle and behavioral changes. It may also encourage you to ask your doctor about other ways to help lower your risk.
Genetic changes can influence cancer treatment
Treatment for cancer is very complex. Two patients with the same type of cancer may respond very differently to the same treatment. While some genes are involved in the risk to develop cancer, other genes are involved in the way our body responds to medicine. Researchers have found gene changes that are associated with a better or worse response to certain cancer-fighting drugs. The CPMC research study hopes to gain a better understanding of the genetic variants that play a role in drug response so that this information can be used to improve the treatment of cancer and other diseases.
Aug 12, 2009
Genetics researchers have unveiled a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for diagnosing and identifying genetic problems in patients.
A team from The Children's Hospital of Philadelphia published its high-resolution map and analysis of CNVs in the human genome in the July 10 online edition of the journal Genome Research.
In contrast to single base alterations of DNA, which are single nucleotide polymorphisms, or SNPs, often referred to as "snips," CNVs are larger variations in DNA structure. As changes to a single DNA letter, SNPs might be considered misspellings or alternate spellings of a word, while CNVs are losses of whole phrases, paragraphs or even pages (deletions), or are repeated sections (duplications). Some CNVs are inserted stretches of DNA from other parts of the genome. Both SNPs and CNVs contribute to genetic diversity and disease by changing the action of genes for which DNA carries coded instructions.
"We all carry a number of these variations in our own genomes," said study co-leader Peter S. White, Ph.D., a molecular geneticist and director of the Center for Biomedical Informatics at Children's Hospital. "Some CNVs contribute to a disorder, but most of them do not, and it is often challenging to determine which are important. One approach is to compare CNVs in healthy individuals to those in patients with a disease, to find those CNVs that seem to occur primarily in people with a certain disease. Our map provides a large and uniform baseline standard to indicate which CNVs represent normal variation."
The investigators analyzed DNA from blood samples taken from 2,026 subjects. The subjects were healthy children and their parents, all of them drawn from primary care and well-child clinics in the Children's Hospital health care network. Of the samples, 65 percent were from Caucasians and 34 percent from African Americans.
The CNV map has a higher resolution than most previous efforts, say the authors, with over 50,000 CNVs cataloged throughout the genome. Three-quarters of these were "non-unique," occurring in multiple unrelated individuals. A majority (51.5 percent) of these non-unique CNVs were newly discovered. On average, the healthy subjects in the study have approximately 27 CNVs each.
The researchers have posted the full CNV database on the Hospital's website, where it is freely available to gene researchers worldwide. The web browser also enables researchers to compare specific CNVs to those collected in public data repositories from other institutions.
"This resource will be very important in enabling rapid and accurate diagnoses of rare diseases resulting from CNVs," said lead author Tamim H. Shaikh, Ph.D., a molecular geneticist at Children's Hospital. These genetic diseases may be individually rare, but collectively occur at frequencies comparable to disorders such as Down syndrome. "In order to pinpoint the one CNV that is the cause of a disease, it is critical to quickly eliminate those that are part of the spectrum of normal variation that exists in the human genome. That's what this CNV data and other similar resources allow us to do," Shaikh added.
The authors went on to analyze DNA from a child with multiple congenital problems, including developmental delay and brain malformations. They found 35 CNVs, of which 32 were previously detected in healthy controls. Two of the patient's three unique CNVs were relatively small in size, but the third CNV was a deletion in chromosome 17 that encompassed 51 genes, including several that are active in early prenatal development. Unlike most of the other CNVs, it did not occur in the child's parents, strongly supporting the conclusion that the chromosome deletion arose spontaneously in the patient and that it caused the child's disease.
To detect CNVs in the thousands of samples, the investigators used automated gene-analyzing technology at the Center for Applied Genomics at Children's Hospital, directed by Hakon Hakonarson, M.D., Ph.D., a co-leader of this study. "Although these CNVs were detected in healthy children, they may have significant disease implications that may not manifest until later in life," said Hakonarson. Hakonarson and colleagues earlier published studies of CNVs in autistic spectrum disorders and attention-deficit hyperactivity disorder. Both studies found CNVs in gene regions involved in neurological development during early childhood.
The new database has another strength, added Shaikh. Because it analyzed large numbers of samples from both Caucasians and African Americans, it measured CNV levels that differ between the two ethnic groups, and enables clinicians to make more precise diagnoses. Shaikh added that the researchers expect to expand the database with larger sample sizes and data from additional ethnic populations.
In addition to its use in diagnosis, said White, the database may also assist researchers studying molecular evolution. For example, those investigating how genetic variations occurred as human populations spread across continents.
Aug 11, 2009
By Brian Gormley
What’s in your DNA? Venture capitalists believe you’ll pay to find out.
A few venture firms are funding start-ups that promise to offer consumers insight into what their DNA says about ancestry or disease risks. While most of these services don’t diagnose disease, they say they can spot warning signs.
The latest company seeking to help consumers decode their genetic risk for disease isPathway Genomics Corp., which recently introduced its service to take on venture-funded companies such as Navigenics Inc. and 23andMe Inc., as well as publicly traded companies like deCODE Genetics Inc.
Pathway, based in San Diego, formed in 2008 and closed its most recent venture round in June, though it is not disclosing how much it raised. Investors include technology firm Founders Fund, Western Technology Investment, and Harry Edelson, who has funded several health care and technology companies through Edelson Technology Partners. Navigenics backers include Kleiner Perkins Caufield & Byers, while 23andMe has raised capital from New Enterprise Associates, Genentech Inc. and others.
Pathway Genomics will charge $249 for a service that provides consumers with their genetic risk to more than 90 health conditions by analyzing their genome for genetic markers. Consumers also can order an ancestry test for $199, or both services for $348.
Consumers can learn their genetic risk for several cancers, including those of the prostate and breast, cardiovascular diseases, rheumatoid arthritis, Type 1 and Type 2 diabetes, and many other diseases.
Its prices are in the range of what others charge: 23andMe offers a service that provides disease risk and ancestral information for $399, for example. Pathway Genomics performs its services at its own research lab, so customers’ DNA - taken from saliva samples that they send in after ordering a test from Pathway’s Web site - never leaves the company’s grounds. Its lab has State of California and Clinical Laboratory Improvement Amendments certifications.
For an additional fee, Pathway Genomics customers can also gain access to genetic counselors. The company hasn’t disclosed what it will charge for these services, but James Plante, founder and CEO, said the fees will only cover its expenses and won’t be a moneymaker.
“We think it’s an important service to have available. We don’t anticipate it being a profit center,” Plante said.
Improved understanding of how genetic variations influence health has combined with technological innovation to make such services possible. But since health insurers aren’t covering these offerings - at least not yet - anyone wanting these services will have to pay up for them. It’s as yet unclear how many people will do so.