Category Archives: Genome

Arjuna Genome - Grief Thief
"Grief Thief" performed by Arjuna Genome From the album The Universe is Blinking Produced by Avi Buffalo Out now on Big Joy Records Starring: Jaxon Demme Dir...

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Arjuna Genome - Grief Thief - Video

Newswise By studying the genetic makeup of breast cancer patients, doctors are taking the next steps forward in delivering more personalized care to patients. Whole genome sequencing from cancers is not a new concept, but recently researchers have delved more deeply into the evolution of breast cancers identifying that it comes in four distinct types. Breaking down how the cells of each sub-type of the disease function is allowing for doctors to customize treatments for improved outcomes.

Even more promising, clinical research trials at a few select institutions around the country, including Clevelands University Hospitals Case Medical Center Seidman Cancer Center, are part of a development in a rising trend toward targeted treatments as a result of genomic profiling of tumors.

The knowledge of the molecular underpinnings of a particular kind of breast cancer can improve the cure rates and even in the advanced disease setting improve quality of life and length of life, says Lyndsay Harris, MD, Director, Breast Cancer Program, UH Seidman Cancer Center. The cure of the disease is really our goal, and we are moving quickly toward a time when we can expect to cure the vast majority of women who are diagnosed with breast cancer at the earliest stages.

Dr. Harris and her team are currently conducting a whole genome sequencing study to examine what changes in the tumor are unique to a breast cancer patient. The anticipated outcome is to determine who will benefit most from certain drug therapies and to use that information to create a personalized treatment plan for each patient involved.

Dr. Harris can be available in the University Hospitals broadcast studio by calling 216-844-2555.

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Rising Trend in Genome Mapping Delivers Targeted Breast Cancer Treatment

WASHINGTON - Little Amelia Sloan became a pioneer shortly after her birth.

The healthy baby is part of a large research project outside the nation's capital that is decoding the DNA of hundreds of infants. New parents in a few other cities soon can start signing up for smaller studies to explore what's called genome sequencing fully mapping someone's genes to look for health risks should become a part of newborn care.

It's full of ethical challenges.

Should parents be told only about childhood threats? Or would they also want to learn if their babies carried a key gene for, say, breast cancer after they're grown? Could knowing about future risks alter how a family treats an otherwise healthy youngster? And how accurate is this technology could it raise too many false alarms?

This is the newest frontier in the genetic revolution: how early to peek into someone's DNA, and how to make use of this health forecast without causing needless worry.

"This was something that was looming over the horizon," said Dr. Alan Guttmacher, a pediatrician and geneticist who heads the National Institutes of Health's child health division. Last month, NIH announced a $25 million, five-year pilot project in four cities Boston, San Francisco, Chapel Hill, N.C., and Kansas City, Mo. to start answering some of the questions before the technology is widely offered for babies.

Today, the 4 million U.S. babies born annually have a heel pricked in the hospital, providing a spot of blood to be tested for signs of at least 30 rare diseases. This newborn screening catches several thousand affected babies each year in time for early treatment to prevent death, brain damage or other disabilities. It's considered one of the nation's most successful public health programs.

A complete genetic blueprint would go well beyond what that newborn blood spot currently tells doctors and parents allowing a search for potentially hundreds of other conditions, some that arise in childhood and some later, some preventable and some not.

"If I truly believed that knowing one's genome was going to be transformative to medicine over the next decade or more, then wouldn't I want to start generating that information around the time of birth?" asked Dr. John Niederhuber, former director of the National Cancer Institute who now oversees one of the largest baby-sequencing research projects to date.

At Niederhuber's Inova Translational Medicine Institute in Falls Church, Va., researchers are mapping the genomes of newborns, along with their parents and other relatives for comparison. The long-term goal of the privately funded study is to uncover genetic patterns that predict complex health problems, from prematurity to developmental disorders.

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Genome sequencing in babies raises ethical questions

Dr. Magliocco on the Challenges of Analyzing the Genome of a Melanoma Tumor
Anthony M. Magliocco, MD, chair of pathology, executive director of esoteric labs at Moffitt Cancer Center, discusses the difficulties of analyzing the genom...

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Dr. Magliocco on the Challenges of Analyzing the Genome of a Melanoma Tumor - Video

Welcome to Genome Canada on YouTube
Genome Canada is a not-for-profit organization that invests in genomics research to generate economic and social benefits for Canadians. Genome Canada builds...

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Welcome to Genome Canada on YouTube - Video

Sasquatch Genome Project on ABC 8

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Sasquatch Genome Project on ABC 8 - Video

More From The Sasquatch Genome Project Press Conference
The DNA results are now available online, http://sasquatchgenomeproject.org/view-dna-study/

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More From The Sasquatch Genome Project Press Conference - Video

Welcome to Genome Canada on YouTube / Bienvenue à Génome Canada sur YouTube
Genome Canada is a not-for-profit organization that invests in genomics research to generate economic and social benefits for Canadians. For more information...

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Welcome to Genome Canada on YouTube / Bienvenue à Génome Canada sur YouTube - Video

Dr. Melba Ketchum on ABC 9 discussing Sasquatch Genome Project

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Dr. Melba Ketchum on ABC 9 discussing Sasquatch Genome Project - Video

Parts of human DNA that do not contain genes but instead turn them on and off may be just as vulnerable to cancer-causing mutations as protein-producing genes are, a new study finds.

Using computer programs to comb through the DNA of 88 cancer patients, researchers identified 98 mutations in gene-regulating parts of the genome that may be causing the patients breast, prostate or brain tumors, the team reports in the Oct. 4 Science.

The findings may help researchers better understand which genetic alterations lead to disease and which are harmless. It helps to clarify a confusing question in human variation: What variants are important? says Douglas Levine, a surgeon at Memorial Sloan-Kettering Cancer Center in New York City who was not involved with the work.

Finding one or a handful of variants that lead to disease is a daunting task because it requires sorting through more than 3 billion bases the information-carrying chemicals that make up DNA in each person. As a result, many scientists have narrowed their search to the 1 to 2 percent of the genome that makes proteins.

But many genetic variants implicated in common conditions such as diabetes and heart disease fall in the no-protein land between genes. Rare disease-causing mutations, such as those that spark cancer, may also fall in that vast, mysterious territory known as noncoding DNA.

"When it comes to cancer, those regions have been neglected so far," says Jan Korbel, a geneticist at the European Molecular Biology Laboratory in Heidelberg, Germany. Cancer researchers didn't have enough data to allow a search, says Korbel, who was not involved in the research. "This study shows how you can find these candidates."

To narrow down which noncoding parts probably contain important variants, Ekta Khurana, a computational biologist at Yale University, and her colleagues examined DNA from 1,092 volunteers in the 1000 Genomes Project, an effort to uncover human genetic variation. The team also used information from the Encyclopedia of DNA Elements, known as ENCODE. That project maps stretches of noncoding DNA that are important for switching genes on and off. Some switches control when one or a small number of genes turn on; others govern many genes.

To find the switches most likely related to disease, Khurana and colleagues reasoned that if a stretch of noncoding DNA were particularly important for health, natural selection would have weeded out variants. So the team looked for regions that contain fewer mutations than would be expected by chance. A mutation in one of those sensitive places is about 40 times as likely to cause disease as is a mutation elsewhere in the genome, the researchers found.

Even fewer mutations showed up in a small subset of those sensitive regions, indicating that those switches may be ultrasensitive to change. A mutation in one of these glass-jawed pieces of DNA is about 400 times as likely to cause disease as is one in an average stretch of DNA.

The team used these data to create a computer program that identifies mutations in noncoding parts of the genome and scores how detrimental changes are likely to be. The researchers then used the program to analyze the cancer patients DNA. Of 98 mutations the researchers identified, 90 damage hub controllers of gene syndicates and 68 fall in sensitive noncoding areas.

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Cancer variants found in 'neglected' region of genome