Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

Personalized Medicine From Genomics and Bioinformatics Highlighted at UCSF Genetics Symposium

Published: Thursday, November 15, 2012
Last Updated: Thursday, November 15, 2012
Bookmark and Share
Personalized medicine advances arising from genetic discoveries were the primary focus of wide-ranging presentations at the UCSF Institute for Human Genetics 2012 Symposium.

Speakers described clinical research that has resulted in the identification of gene mutations that often drive deadly breast cancers in black populations; explained how rare mutations responsible for devastating developmental defects in infants can now be discovered in studies of just a handful of individuals from affected families; offered a preview of results expected to emerge from studies of genes and environment in hundreds of thousands of patients through a Kaiser Permanente-UCSF project; and described technical advances that continue to increase scientists’ ability to identify links between DNA and disease.

All the speakers “are at the cutting edge of applying genomics and informatics to precision medicine,” said the institute’s director Neil Risch, MD, referring to an emerging trend in medicine in which treatment is tailored to the patient through a more precise diagnosis of disease.

At UCSF — a crucible of biotechnology and home to Nobel laureates who identified a role for the mutation of normal genes in cancer — major new initiatives are underway in clinical genetics and bioinformatics, Risch said.

The symposium led off with geneticist Eddy Rubin, MD, PhD, whose presentation demonstrated that genetic studies are being applied to human problems that extend even beyond the realm of medicine.

Rubin – a scientist who oversaw the sequencing and analysis of 13 percent of the human genome as part of the original Human Genome Project – has taken his research from studying abnormalities in DNA “enhancers” that may contribute to disease susceptibility or birth defects, to cutting global greenhouse gas emissions by manipulating gut microbes in sheep.

Early in his career, Rubin completed a medical genetics fellowship under the late Charles Epstein, MD, a founding director of the UCSF Institute for Human Genetics and a driving force behind medical genetics becoming an accredited medical specialty. Rubin was featured at the symposium as the named 2012 Charles J. and Lois B. Epstein Visiting Professor at UCSF.

Rubin, director of the Department of Energy’s Joint Genome Institute and director of the Genome Sciences Division at Lawrence Berkeley National Laboratory, is a pioneer in exploring DNA beyond genes, which until recently was a poorly understood realm that may nonetheless prove to be key to understanding fundamental aspects of biology and disease.

Researchers were for decades focused on DNA that encodes proteins – the genes. But the sequencing and analysis of the genome has revealed that genes account for less than 2 percent of the DNA on the 46 human chromosomes. Within the universe of DNA, the stuff beyond the genes is comparable to the poorly understood dark matter of the cosmos.

DNA 'Enhancers' Guide Development

Rather than working under the lamppost where the genes are, Rubin explores DNA within these dark regions of the chromosomes. He focuses on bits of DNA called “enhancers,” which play an important role in determining how much protein is made from a gene at a particular time and place within an organism – with great implications for how a creature develops.

Rubin wondered: Could abnormal enhancers or unusual variations in specific enhancers be playing a role in disease susceptibility or birth defects?

Some enhancers are similar across many organisms, while others are more specific to humans or to other species, Rubin said. Within the cell’s DNA, the enhancers often are nowhere near the genes they affect, but Rubin has developed new ways to find them.

Enhancers switch on and off as an organism develops, and some are uniquely activated within particular tissues. Many enhancers are the same in different species, “conserved” through the course of evolution.

But the enhancers that switch on later in development are more likely to be unique to that species. “Early in development, we see very conserved enhancers, but later on during development we see enhancers that are not conserved,” Rubin said.

Thus the developing human heart, which forms early during embryogenesis, shares many enhancers with the developing hearts of other species. Brains, which form later, share fewer enhancers across species.

Working with mice, Rubin has identified 4,400 enhancers involved in shaping the face and the bones of the head and found that some abnormal enhancer DNA appears to play a role in facial abnormalities. “We’re seeing subtle effects … with many variants causing small effects,” he said.

Sheep Flatulence and Global Warming

At the DOE Joint Genome Institute, Rubin has begun to devote more of his research effort to the study of global greenhouse gases, specifically the contributions from livestock such as cows and sheep. These barnyard beasts harbor gut microbes that produce methane while helping the sheep to digest grass and other sources of cellulose.

As countries with large populations become wealthier, their citizens not only aspire to drive more cars and own more appliances, they also want to eat more meat, Rubin said, which is likely to lead to yet more greenhouse gas production as more of these domestic animals are raised to meet the growing demand.

In New Zealand, Rubin said, “They do believe in climate change, and they are putting in place a carbon tax, and they’re going to be charging their sheep farmers. So the sheep farmers are very interested in how the sheep produce methane and whether they can mitigate it at all.”

Rubin and his New Zealand colleagues studied 23 age- and size-matched members of a flock of sheep raised in the same pasture. The gut, or more precisely the “rumen” of a sheep contains massive amounts of bacteria, protozoa and fungi that ferment cellulose in grass and convert it into nutrients for the sheep. But sheep also house another type of microbe called Archaea. Archaea produce methane, which the sheep burp and fart out, Rubin said.

Genetic analysis permitted the researchers to figure out why methane emissions varied among sheep and to determine how Archaea might be a suitable target of efforts to lower methane release.

Rubin and colleagues did not find differences in the numbers of methane-producing microbes between the high-methane and low-methane producing sheep, but they did find that the methane-producing microbes within high-methane-emitting sheep were better at making methane, as evidenced by the increased activation of genes involved in the biochemical steps of methane production.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,800+ scientific posters on ePosters
  • More Than 4,000+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

RNA-Based Drugs Give More Control Over Gene Editing
CRISPR/Cas9 gene editing technique can be transiently activated and inactivated using RNA-based drugs, giving researchers more precise control in correcting and inactivating genes.
Monday, November 23, 2015
Some 3-D Printed Objects Are Toxic
Researchers at the University of California, Riverside have found parts produced by some commercial 3-D printers are toxic to certain fish embryos.
Monday, November 09, 2015
Artificial Kidney Research Gets A Boost
Development of a surgically implantable, artificial kidney — a promising alternative to kidney transplantation or dialysis for people with end-stage kidney disease — has received a $6 million boost.
Monday, November 09, 2015
Clearest Ever Images of Enzyme that Plays Key Roles in Aging, Cancer
UCLA-led research on telomerase could lead to new strategies for treating disease
Monday, October 19, 2015
Crop Cure
Scientists in new center to use medical research techniques to help food crops withstand drought and climate change.
Friday, October 16, 2015
Rare Childhood Leukemia Reveals Surprising Genetic Secrets
A coalition of leukemia researchers led by scientists from UC San Francisco has discovered surprising genetic diversity in juvenile myelomonocytic leukemia (JMML), a rare but aggressive childhood blood cancer.
Thursday, October 15, 2015
Sustaining Our Salad
Improving lettuce crops is the aim of a new, $4.5 million grant, awarded to University of California, Davis, researchers by the U.S. Department of Agriculture's National Institute of Food and Agriculture.
Thursday, October 15, 2015
Double Enzyme Hit May Explain Common Cancer Drug Side Effect
Mouse study suggests genomic screening before treatment may help prevent anemia.
Wednesday, October 14, 2015
New Autism Genes Are Revealed in Largest-Ever Study
Work draws more detailed picture of genetic risk, sheds light on sex differences in diagnosis.
Wednesday, September 30, 2015
Influenza A Viruses More Likely To Emerge In East Asia Than North America
Novel strains of influenza A are more likely to emerge in East Asia than in North America, according to a global analysis by the One Health Institute at the UC Davis School of Veterinary Medicine and EcoHealth Alliance.
Wednesday, September 30, 2015
Opening the Door to Safer, More Precise Cancer Therapies
New method regulates when, and how strongly, cancer-killing therapeutic T cells are activated.
Tuesday, September 29, 2015
Crunching Numbers to Combat Cancer
UCSF receives $5 million to integrate data from cancer research models.
Wednesday, September 16, 2015
Virus In Cattle Linked To Human Breast Cancer
A new study by UC Berkeley researchers establishes for the first time a link between infection with the bovine leukemia virus and human breast cancer.
Wednesday, September 16, 2015
Ultrafast DNA Diagnostics
New technology developed by UC Berkeley bioengineers promises to make a workhorse lab tool cheaper, more portable and many times faster by accelerating the heating and cooling of genetic samples with the switch of a light.
Monday, August 03, 2015
Scientists Create CRISPR/Cas9 Knock-In Mutations in Human T Cells
In a project spearheaded by investigators at UC San Francisco, scientists have devised a new strategy to precisely modify human T cells using the genome-editing system known as CRISPR/Cas9.
Tuesday, July 28, 2015
Scientific News
High Throughput Mass Spectrometry-Based Screening Assay Trends
Dr John Comley provides an insight into HT MS-based screening with a focus on future user requirements and preferences.
The MaxSignal Colistin ELISA Test Kit from Bioo Scientific
Kit can help prevent the antibiotic apocalypse by keeping last resort drugs out of the food supply.
"Good" Mozzie Virus Might Hold Key to Fighting Human Disease
Australian scientists have discovered a new virus carried by one of the country’s most common pest mosquitoes.
Non-Disease Proteins Kill Brain Cells
Scientists at the forefront of cutting-edge research into neurodegenerative diseases such as Alzheimer’s and Parkinson’s have shown that the mere presence of protein aggregates may be as important as their form and identity in inducing cell death in brain tissue.
Closing the Loop on an HIV Escape Mechanism
Research team finds that protein motions regulate virus infectivity.
New Class of RNA Tumor Suppressors Identified
Two short, “housekeeping” RNA molecules block cancer growth by binding to an important cancer-associated protein called KRAS. More than a quarter of all human cancers are missing these RNAs.
Potential Treatment for Life-Threatening Viral Infections Revealed
The findings point to new therapies for Dengue, West Nile and Ebola.
World’s First Therapeutic Venom Database
Open-source library describes nearly 43,000 effects on the human body.
Biologists Induce Flatworms to Grow Heads and Brains of Other Species
Findings shed light on role of a new kind of epigenetic signaling in evolution, could yield clues for understanding birth defects and regeneration.
Fat Cells Originating from Bone Marrow Found in Humans
Cells could contribute to diabetes, heart disease.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos