(PRWEB) March 05, 2014

In Latin America, Mexico is the pioneer in genetic test applications. Personalized medicine has only been around for the last 15 years. The ALAMPs intention with personalized medicines was to decrease and identify the predisposition of diseases, and to increase the success rate of therapy.

A list of international and national guests gathered at this ALAMP sponsored event. Attendees included Stefan Long, director of the science department at General Genetics Corporation, the number one laboratory in the study of ADN in the world; Dr Felipe Vzquez Estupin, specialist in family therapy; and Dr. Bernard Esquivel, president of ALAMP, who discussed the transition that personalized medicine proposes for healthy and sick individuals, as well as for health systems, through the integration of personalized medicine into clinical practice of genetic examinations that strengthen such care.

The first international symposium of personalized medicine was directed at any health professional that wanted to incorporate their field in the diverse areas of personalized medicine. This included establishment of the protocols of prevention, follow up and monitoring to the development of specific adequate treatments, and the genetic characteristics of each individual.

As defined by the Presidents Council of Advisors of Science and Technology, personalized medicine discerns if the processes that apply to a patient, or a to a group of patients, are appropriate from view point of the proposed strategies as the response to a specific medicine will be different from the present responses of a patient affected by the same condition. This has allowed, and will continue to allow, the introduction of predictors of any disease, whether it be the presence of mutations of oncogenes, or of regular tumor genes.

This algorithm explains the vision of Mexico for personalized medicine: based on the molecular profile of the patient (his genome), regardless of his age, it identifies the susceptibility of various conditions to develop in the patient. Subsequently they establish educational mechanisms/institutions like nutrition (Nutrigenomics; the individualization of micro-macro nutrients according to the metabolic level expressed by the genes), habits, etc., with the intention of preventing the onset of the disease. Since we are not aware of all the environmental factors that trigger diseases, there is always the possibility of more developing factors. Therefore, it is very important to establish a customized program aimed at the early detection of such pathogens. If one detects many diseases in their initial stage (among these are many types of cancer), one can implement appropriate therapeutic measures that eradicate these diseases or control them quickly, preventing further damage and degeneration of the patient (which is the case in non-communicable chronic diseases, or diabetes).

The first international symposium of personalized medicine addressed issues in various areas of genetic medicine, and addressed the steps that Mexico is taking as the pioneer in its application of personalized medicine in Latin America. As a country, Mexico hopes to reduce the unfavorable economic impact of the 25 chronic-degenerative prevalent diseases in the next 20 years by applying immediate preventive measures through a simple genetic test. The proposed test would cost $420 dollars, which will allow saving on treatment costs. Currently, there are 12.8 million future diabetics that could spend up to $448,000 if they dont detect their disease earlier.

For example, as we know, type 2 diabetes mellitus is one of the major causes of death in Mexico and has a pre-pathogenic period (before it appears, which highlights the genetic susceptibility), and a pathogenic period (with the onset of the disease) stage that doesnt present symptoms. Approximately two years later after the onset of the disease, a large number of the patients are not yet diagnosed, until they have an acute complication, i.e., with the hospital emergency room.

Applying the proposed model of personalized medicine to these patients may:

A)Delay the onset of the diseases by many years, which allows for a better quality of life for the patient and a very important economic savings cost for his or her social security.

Read the rest here:

Personalized Medicine: The New Paradigm in the Prevention and Treatment of Diseases

PUBLIC RELEASE DATE:

5-Mar-2014

Contact: Shawna Williams shawna@jhmi.edu 410-955-8632 Johns Hopkins Medicine

Johns Hopkins researchers say they have found one way that a recently discovered genetic mutation might cause two nasty nervous system diseases. While the affected gene may build up toxic RNA and not make enough protein, the researchers report, the root of the problem seems to be snarls of defective genetic material created at the mutation site.

The research team, led by Jiou Wang, Ph.D., an assistant professor of biochemistry and molecular biology and neuroscience at the Johns Hopkins University School of Medicine, reports its finding March 5 on the journal Nature's website.

Two years ago, researchers linked the gene C9orf72, named for its location on the ninth human chromosome, to amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, and to frontotemporal dementia (FTD).

In ALS, motor neurons nerve cells that carry messages from the brain to muscles degenerate and eventually die, which gradually paralyzes the patient. In FTD, neurons in the frontal and temporal lobes of the brain die. Some scientists think the same genetic and biological processes cause both disorders, but with very different symptoms, depending on where in the brain they occur.

The mutation in C9orf72 is called a hexanucleotide repeat expansion, a six-letter "word" of DNA repeated over and over, in a part of the gene that doesn't contain instructions for making any proteins. Although it's normal to have up to 20 such repeats, some people with ALS or FTD have dozens or even hundreds of them. Studies show the mutation is likely responsible for 4 to 8 percent of cases of sporadic ALS the kind that isn't necessarily hereditary and, in some groups, up to 40 percent of the kind that is.

To learn how the repeated sequence causes disease, the Johns Hopkins scientists looked at the structure of the DNA that makes up the gene and the RNA that carries its instructions. Although DNA and RNA are generally seen as long strands, they can bunch and curl to make 3-D structures.

Working with DNA and RNA they made that bore the six-letter "word" repeat, the researchers figured out that both were forming structures called G-quadruplexes. In these formations, guanines called "G" for short, one of the letters in the repeating DNA "word" link up, making stacks that stick together like tiny shelves. The RNA also forms other shapes in the repeating section hairpins and bulges. The researchers speculate that the G-quadruplexes and other structures might be getting in the way of the nucleic acids' normal functions.

Read more:

ALS-linked gene causes disease by changing genetic material's shape

New tests could spare soldiers from debilitating sickness at high altitudes--and mitigate cattle deaths in the Rockies

Chris 73, Wikimedia Commons

On his 27th birthday, David Hillebrandt and his wife Sally began to climb Mount Kenya, the second-highest mountain in Africa after Kilimanjaro. Instead of gearing up and heading straight for the mountain's tallest peakwhich reaches 5,199 metersthe couple started their journey more leisurely, trekking through scenic ridges and valleys around the mountain at an altitude of about 3,000 meters.

David, who today serves as a medical advisor to the British Mountaineering Council, already had considerable climbing experience at the time: he had scaled a 5,790-meter peak in Pakistan and 3,960-meter peaks in the European Alps. Sally, in contrast, had never done any serious climbing and did not consider herself a mountaineer.

But Sally wasn't the one who needed to stop and turn around.

"I am meant to be this tough, rugged mountaineer," David says, "and I celebrated my birthday by throwing up all over the place." Plagued by a throbbing headache and relentless nausea, David retreated to lower ground. He knew from previous climbs that he was prone to altitude sickness, but he thought circling the mountain at 3,000 meters would be a good way to acclimatize. This time it didn't do the trick. Even though she was a far less experienced climber, Sally adjusted to the altitude much faster.

It wasn't experience that made the differenceit was genetics. Scientists have known for a while that some people are inherently more susceptible to altitude sickness than othersand that this susceptibility is heritablebut only now are they on the trail of the culprit genes. Preliminary studies suggest that a group of six genes predicts who will get altitude sickness with greater than 90 percent accuracy. Such a precise genetic test would greatly benefit the military, which currently has no way of predicting which soldiers will fall ill when flown to high altitudes and would rather not waste money on expensive acclimatization drugs. In a parallel research effort, scientists have been searching for the genes that determine which cows develop altitude sickness, also known as brisket disease, when they graze in the Rocky Mountains. Because tens of thousands of cows die in the western U.S. from brisket disease annually, ranchers would like nothing more than to strip the responsible genes from the breeding population.

Written in blood The pursuit of a genetic test for altitude sickness began in earnest a few years ago in Robert Roach's laboratory at the University of Colorado. In 2010, 28 people in Roach's lab ascended to an altitude of 4,875 meters without ever leaving the ground. Roach placed his volunteers in a large metal box called a hypobaric chamber and gradually sucked out air with a vacuum pump, reducing atmospheric pressure to mimic a high altitude, low-oxygen environment. Roach purposefully recruited a mixture of people who were susceptible to altitude sickness and people who had never had problems in high climes. As expected, about half of the 28 volunteers felt sick in the chamber, whereas the others felt fine.

Roach took samples of his volunteers' blood, isolated their DNA and programmed a computer to search for genetic differences between the people who got sick and those who didn't mind hanging out in thin air. The program identified six genes that are expressed at unusually high or low levels in people who felt sick; some of the genes are linked to oxygen transport. Looking at the expression levels of those six genes alone was enough to distinguish people who became ill from those who did not with about 95 percent accuracy.

The following year, Roach collaborated with Benjamin Levine of the University of Texas Southwestern Medical Center to try the rudimentary genetic test on a larger group of volunteers. This time, instead of bringing the mountain to his lab, Roach decided to move his lab to the mountain.

More here:

Mountain Maladies: Genetic Screening Susses Out Susceptibility to Altitude Sickness