Washington, August 19 (ANI): Researchers have decoded the genetic basis of chronic mountain sickness (CMS) or Monge's disease.

Their study provides important information that validates the genetic basis of adaptation to high altitudes, and provides potential targets for CMS treatment.

More than 140 million people have permanently settled on high-altitude regions, on continents ranging from African and Asia to South America. The low-oxygen conditions at such high altitudes present a challenge for survival, and these geographically distinct populations have adapted to cope with hypoxia, or low levels of oxygen in the blood.

Interestingly, many humans living at high elevations, particularly in the Andes mountain region of South America, are maladapted and suffer CMS. The disease is characterized by an array of neurologic symptoms, including headache, fatigue, sleepiness and depression.

Often, people with CMS suffer from strokes or heart attacks in early adulthood because of increased blood viscosity (resistance to blood flow that can result in decreased oxygen delivery to organs and tissues).

Past studies of various populations show that CMS is common in Andeans, occasionally found in Tibetans and absent from Ethiopians living on the East African high-altitude plateau.

Therefore, the researchers dissected the genetic mechanisms underlying high-altitude adaptation by comparing genetic variation between Peruvian individuals from the Andes region with CMS and adapted subjects without CMS, using whole genome sequencing.

They identified two genes, ANP32D and SENP1, with significantly increased expression in the CMS individuals when compared to the non-CMS individuals, and hypothesized that down-regulating these genes could be beneficial in coping with hypoxia.

Principal investigator Gabriel G. Haddad, Distinguished Professor and chair of the Department of Pediatrics at UC San Diego School of Medicine, and Physician-in-Chief and Chief Scientific Officer at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego, said that while a number of published articles have described an association between certain genes and the ability for humans to withstand low oxygen at high levels, it was very hard to be sure if the association was causal.

The researchers therefore looked at genetic orthologs - corresponding gene sequences from another species, in this case the fruit fly - to assess the impact of observed genetic changes on function under conditions of hypoxia.

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By: Jet Villa, InterAksyon.com August 18, 2013 5:02 PM

REUTERS FILE PHOTO

InterAksyon.com The online news portal of TV5

MANILA, Philippines - The Food and Drug Administration (FDA) will conduct on Friday, August 23, a public hearing on the regulation of stem cell therapy in the country.

The FDA said the public hearing is scheduled from 3 p.m. to 5 p,m, at the Audio-Visual Room, 3rd floor, Annex Building, FDA office on Civil Drive in Alabang Muntinlupa.

The purpose of the hearing is to discuss the regulation of stem cell therapy, the stem cell products, and the health facilities that are offering the service in the court, it said.

The FDA also established an online reporting system to document adverse events linked to human cells, tissues, and cellular- and tissue-based products such stem cell therapies acquired in any facility.

The agency said those who experienced any untoward event or side effect or treatment failures after undergoing stem cell procedures can report through FDA website at http://www.fda.gov.ph under eReport and Adverse Drug Reaction, Report section.

E-mails may also be sent toreport@fda.gov.ph.

All consumers are assuredthat all information given will be treated with utmost confidentiality.Contact details are needed in case of a need for follow-up and validation.However, anonymous reports will still be accepted, the FDA added.

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FDA hearing on stem cell therapy set on Friday, Aug. 23

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By

GAVIN MCCARTHY,

IrishCentral Intern

Published Sunday, August 18, 2013, 6:00 AM

Updated Friday, August 16, 2013, 1:17 PM

Research, by Trinity College Dublin and the Ludwig Institute for Cancer Research, in Stockholm, has made a major breakthrough in the battle against neuroblastoma, a cancer that specifically affects children

Photo by Google Images

A collaborative research effort between Trinity College Dublin and the Ludwig Institute for Cancer Research Stockholm has made a major breakthrough in the battle against neuroblastoma, a cancer that specifically affects children, and accounts for 15% of cancer deaths in children.

Neuroblastoma targets an average of ten Irish children every year, and is the most common cancer diagnosis for children under two years old. A cancer that affects the nervous system, Neuroblastoma attacks special nerve cells called neuroblasts. The research looked closely at the role of the CHD5 tumor suppressor during normal system development. CHD5 is a gene often inactive in the most severe forms of neuroblastoma, preventing immature neuroblasts from developing and causing them to become cancer cells. The joint research team discovered that CHD5 is a requisite gene for the cellular transition from a stem cell to a mature neuron. This research could lead to new ways to treat neuroblastoma, potentially with currently approved drugs. Current treatment for neuroblastoma can be very aggressive, reports TheJournal.ie, "One treatment is retinoic acid, a drug that can drive neuronal maturation. Unresponsiveness to retinoic acid can be common in more malignant CHD5-negative neuroblastoma cells." With the new research into the gene, however, scientists figure that if CHD5 could be re-activated, it may increase responsiveness to the retinoic acid treatment. Dr. Adrian Bracken, who heads the research group, said that "understanding the role of genes whose deletion or inactivation is associated with disease is central to designing intelligent therapeutic strategies. "Our future work will assess the potential benefit of reactivating CHD5 in neuroblastoma cells which usually retain one silenced copy of this gene. We hope that this research will lead to new and improved treatments for children with this disease." The news of potential new treatments for neuroblastoma is met with a "cautious welcome" from families of children who suffer from the disease. Eight-year-old Robyn Smyth has been battling neuroblastoma since she was diagnosed at three years old, going through chemotherapy, radiotherapy, a stem cell transplant, and she was on tablets. Robyn's mother Bernadette Smyth expressed to The Journal her feelings about the possibility of a new treatment option. "While I welcome any new research or breakthroughs to do with neuroblastoma, it usually takes years for any new treatments to be introduced." She added that if Robyn, who is currently in the middle of another bout of chemotherapy, is unresponsive to her treatment then the family hopes to travel to New York to the Memorial Sloan-Kettering Cancer Center for further treatment. The family is currently fundraising money for Robyn. For more information about Robyn and her family and to donate to the fund, you can visit Robynslife.com

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Irish scientists make breakthrough in childhood cancer treatment

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David Webb rips organizer behind Million Muslim March on 9-11-13

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Cell-free fetal DNA tests are one of the most exciting new prenatal screening tools available to pregnant women. And they could change the way genetic screening is done in the future.

Find out what these tests can tell you, if youre a candidate, and why it might not give you all the answers you need.

A non-invasive, no-risk, simple blood test

In less than two years, four companies in the United States have rolled out cell-free fetal DNA tests: Ariosa Diagnostics Harmony, Nateras Panorama, Verinatas Verifi and Sequenoms MaterniT21.

Unlike amniocentesis and chorionic villus sampling (CVS), which are invasive and carry risks, a cell-free fetal DNA test is a simple blood test. The test can also be done early on in pregnancy at around 10 weeks and results are available within seven to 10 business days. All four companies also tout a nearly 100 percent accuracy rate.

What do they screen for?

Cell-free fetal DNA tests screen for Trisomy 13, 18, and 21. Also known as Down syndrome, Trisomy 21 affects one in every 691 babies in the United States, according to the National Down Syndrome Society. Some tests also screen for more obscure conditions like Turner and Triploid syndromes, and can even determine the babys sex.

The cost of the test runs anywhere from $800 to $2,000, and more insurance companies are covering the test. The availability of each test varies from state to state.

A good option for a high-risk pregnancy

In December 2012, the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine issued a committee opinion endorsing cell-free fetal DNA tests. But they noted that it should be the womans choice to get the test after genetic counseling, and it shouldnt be part of the routine prenatal tests.

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New Prenatal Genetic Tests

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Featured Article Main Category: Multiple Sclerosis Also Included In: Stem Cell Research Article Date: 17 Aug 2013 - 0:00 PDT

Current ratings for: Stem cell spine injections for MS - trial approved

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The US Food and Drug Administration (FDA) has approved a new clinical trial of a groundbreaking strategy using stem cells for the treatment of MS (multiple sclerosis).

Researchers from the Tisch MS Research Center of New York say the FDA has granted approval to begin early clinical investigation (phase 1 trial) of autologous neural stem cells in the treatment of MS.

Multiple sclerosis is a chronic disease that attacks the central nervous system (the spinal cord, optic nerves and brain). Common symptoms are numbness of the limbs, but more severe cases can lead to paralysis and blindness.

According to the Multiple Sclerosis Foundation, there are currently between 350,000 to 500,000 people in the US who have been diagnosed with MS, and 200 people are diagnosed with the disease every week.

The new regenerative strategy will involve using autologous, mesenchymal stem cell-derived neural progenitor cells (MSC-NPs), which will be harvested from the bone marrow of 20 MS patients who meet the criteria for the trial.

The stem cells will then be injected into the cerebrospinal fluid that surrounds the spinal cords of the patients.

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Stem cell spine injections for MS - trial approved

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