Showing posts with label human genome. Show all posts
Showing posts with label human genome. Show all posts

08 January 2015

Annual Economic Cost of Psoriasis Estimated at over $110 Billion


A review article on the the effect of Psoriasis on the U.S economy was published online by JAMA Dermatology. The authors reviewed factors that have a direct, indirect, intangible and comorbidity (presence of one or more additional disorders) costs of adult psoriasis and estimate that the annual U.S. cost of psoriasis for 2013 to be between $112 billion and $135 billion.

Psoriasis is a chronic inflammatory skin disease. It causes the skin to be irritable and form thick, red skin with flaky, silver-white patches called scales. These scales are dead skin cells that form on the surface.

The disease occurs when the immune system mistakes healthy skin cells as a threat and attacks it. It sends out a signal to speed up the growth of new skin cells. Dead skin cells builds up on the skin surface which become scales.

By releasing an estimated annual cost of the Psoriasis, researchers believe it will help develop cost effective therapies that will help alleviate this economic burden and improve patient outcome.

21 October 2013

DNA Methylation Provides Accurate Genetic Clock To Measure Biological Age of Tissues and Organs


A scientist at the University of California- Los Angeles, has discovered a genetic biological clock that accurately measures the biological age of tissues and organs in the body. Using a ntural process called DNA methylation and monitoring 353 biological markers, the clock can measure how each part of the body and its age is comparable to others. The scientist, UCLA geneticist and biostatistician Steven Horvath, Ph.D., noted for example that a woman's breast tissue, age faster than the rest of the body.

DNA methylation is a genetic process that alters the expression of genes in cells as cells divide and differentiate from embryonic stem cells into specific tissues. As mentioned in the embedded video, DNA methylation is similar to a light dimmer switch where it can suppress a specific type of gene from expressing itself.

Using 8,000 samples of 51 types of tissue, Dr. Horvath narrowed focused on 353 biomarkers that change with age and are present throughout the body. These markers measure the biological age of the target tissue rather than its chronological age.

The next step in the research would be to find out if stopping or halting this clock can also stop aging.

18 October 2013

Mysterious Ancient Human - Denisova Hominins Travelled From Northern Asia to Australia


Neanderthals and Denisovans were closely related. DNA comparisons suggest that our ancestors diverged from theirs some 500,000 years ago.
Credit: NGC, CHIP CLARK, SMITHSONIAN INSTITUTION
Scientists from the University of Adelaide in Australia and Pthe Natural History Museum in the UK have proposed that human ancestor, Denisova hominins, managed to travel from Indonesia on the way to Australia and New Guinea and interbred with modern humans on the way. DNA studies show that Denovan DNA is not present in indegnenous humans at the northern asian region where the first of the species have been discovered but were prevalent in Australia, New Guinea and surrounding areas.

This observation means that Denisovans have managed to cross the Wallace line, one of the world's biggest biogeographic barriers which is formed by a powerful marine current along the east coast of Borneo.

The Denisovan species were discovered from a 41,000 year old finger bone fragment of a juvenile female found in the Denisova Cave in the Altai Mountains in Siberia, a cave which has also been inhabited by Neanderthals and modern humans. It is believed that Denisovans have coexisted in Asia with Neanderthals and early modern humans.

Denisovans are defined so far only by the DNA from one bone chip and two teeth and is generally referred to as the "Third Human".

04 February 2013

Synthetic Biology: New Approach To Activating Genes


A new breakthrough in synthetic biology involves building a synthetic protein known as a transcription activator-like effectors or TALE (see image). TALEs are artificial enzymes that can be engineered to attach or bind to almost any gene sequences. This allows biologists and genetic engineers to turn on genes inside cells to levels that were not previously possible.

Synthetic biology is an emerging field of science (biology) where biological parts, devices and systems are designed and constructed for a specific purpose using cells and molecules. It also covers redesigning existing systems to address a specific situation. Synthetic biology covers technologies such as DNA nanotechnology and bionanodevices.

Synthetic biology involves creating cells that copy or mimic natural molecules or using natural cells and molecules and place them within a redesigned system. The purpose for synthetic biology is to understand the factors involved in a problem wherein observation and analysis are not enough. Construction of new models and redesigning biological systems are needed to further comprehend it. Being able to design and build a system further enhances the measure of understanding of the factors involved.

Currently, synthetic biology have developed devices that can diagnose diseases, monitor and identify cancer cells in the blood stream, and even be used to treat common diseases such as acne (See Related Links below).

This is done by creating cells through genetic manipulation. DNA manipulation is similar to coding a computer. The Human Genome Project successfully mapped and sequenced the human gene from both the physical and functional standpoints. By combining certain gene sequences that activate a process, a synthetic biologist can construct a biological system or device. This can be compared to using Lego building blocks to create a structure.

A common application for synthetic biology is creating artificial molecules that mimic natural molecules such as enzymes. Enzymes are large biological molecules responsible for chemical reactions within the body to keep it going.

16 October 2012

Intelligence of Certain Species Linked To Evolution of Body Size Not Brain Size


Conventional scientific belief is that the evolution of intelligence is directly linked to the size of the brain relative to the size of the body of an organism. Simplified, it means that the brain evolves and gets bigger giving the species more intelligence.

Scientists from the University College London, the University of Konstanz, and the Max Planck Institute of Ornithology has found that this belief may not hold true at all. They published their study in the Proceedings of the National Academy of Sciences.

They find that sometimes it is not the brain that gets bigger but it is the body that gets smaller. They note that a species of bats decreased their body mass over time which allowed their brain to perform more duties such as increased dexterity, flight maneuverability, and heightened foraging skills.

29 May 2012

Release and Free Access of The Pediatric Cancer Genome Project Data Valuable To Cancer and Other Disease Research


Credit: Pediatric Cancer Genome Project
Genomics is the study of the the DNA structure of living organisms.

DNA contained in a cell makes up a genome. The human genom is comprised of around six billion individual chromosomes.

The information in DNA is stored as a code made up of four chemical bases; Adenine (A), Cytosine (C), Guanine (G) and Thymine (T). Genomics studies these four bases and the sequence it takes in a DNA strand. It tries to see how each of these pass information to help each cell in the body work properly.

In cancer cells, changes in the dna sequence can cause the cell to behave erratically. It can produce a protein that can make cells grow quickly and cause damage to neighboring cells. By applying genomics to studying cancer cells, scientists can figure out what it is in the DNA structure would allow a cell to become cancerous.

The genome of a cancer cell can also be used to distinguish the different types of cancer. Studying and understanding the cancer genome can also help doctors in finding the best possible treatment for the patient.

World's largest release of comprehensive human cancer genome data helps speed discoveries

To speed progress against cancer and other diseases, the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project today announced the largest-ever release of comprehensive human cancer genome data for free access by the global scientific community. The amount of information released more than doubles the volume of high-coverage, whole genome data currently available from all human genome sources combined. This information is valuable not just to cancer researchers, but also to scientists studying almost any disease.

The release of this data was announced as a part of a perspective published in Nature Genetics online May 29.

The 520 genome sequences released today are matched sets of normal and tumor tissue samples from 260 pediatric cancer patients. The Pediatric Cancer Genome Project is expected to sequence more than 1,200 genomes by year's end. Each sample is sequenced at a quality control level known as 30-fold coverage, ensuring maximum accuracy. St. Jude researchers are analyzing the genomic sequences to determine the differences between each child's normal and cancerous cells to pinpoint the causes of more than a half-dozen of the most deadly childhood cancers, an effort which has already produced a number of key discoveries reported in top scientific journals.

20 April 2012

Rare Mutations in Card14 Gene Linked To Cause Psoriasis


Scientists have identified the first gene that can activate plaque psoriasis, the most common form of psoriasis.

Psoriasis is a common skin condition that causes skin redness and irritation. People with psoriasis have thick, red skin with flaky, silver-white patches called scales. These are dead skin cells that have built up on the surface. It must be stressed that psoriasis is not contagious and cannot be spread to others.

It is generally accepted that the skin condition can be hereditary, passing down through families. Psoriasis occurs when the immune system mistakes healthy cells as a threat. It sends out a signal to speed up the growth of new skin cells.

Skin cells grow deep in the skin and rise to the surface about once a month in a process called cell turnover. In psoriasis, because the immune system instructs the body to generate skin cells, the process is too fast, cell turnover is done within days and not the usual one month, that dead skin cells builds up on the skin surface.

First gene linked to common form of psoriasis identified

Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.

The research shows that rare mutations in the CARD14 gene, when activated by an environmental trigger, can lead to plaque psoriasis. This type of psoriasis accounts for 80 percent of all cases and is characterized by dry, raised, red patches covered with silvery scales that can be itchy and painful.

The new findings also indicate that mutations in CARD14 can be involved in the pustular form of psoriasis and in a debilitating arthritis linked to the psoriasis. The discovery may lead to more effective, targeted therapies for plaque psoriasis and other forms of the disease.

31 October 2011

Researchers Look into Lung Regeneration


Researchers at Weill Cornell Medical College are looking into the possibility that humans can be able to regenerate their own lungs.

In the journal Cell, the scientists have reported that they uncovered the biochemical signals in mice that trigger generation of new lung cells. The cells called, alveoli, are the tiny, grape-like sacs within the lung where oxygen exchange takes place. The biochemical signal have been specifically pinpointed to originate from the endothelial cells that are found lining the interior of blood vessels in the lung.

Mice have been long been known to regenerate and expand the capacity of its lung when needed, the researchers have identified the biological signal that activates this and hopes that this can help in duplicating this process with humans.

Dr. Shahin Rafii is the Arthur B. Belfer Professor of Genetic Medicine and co-director of the Ansary Stem Cell Institute at Weill Cornell Medical College. He says, "Several adult human organs have the potential upon injury to regenerate to a degree, and while we can readily monitor the pathways involved in the regeneration of liver and bone marrow, it is much more cumbersome to study the regeneration of other adult organs, such as the lung and heart..."

Video: How biochemical signals are transmitted to a cell in the human body


Dr. Rafi adds, "It is speculated, but not proven, that humans have the potential to regenerate their lung alveoli until they can't anymore, due to smoking, cancer, or other extensive chronic damage. Our hope is to take these findings into the clinic and see if we can induce lung regeneration in patients who need it, such as those with chronic obstructive pulmonary disease (COPD)."

Independent of this, scientists have also managed to grow alveoli cells from stem cells. Although still in the experimental stage, studies into lung regeneration can lead to other things. Stem cells are cells that can be made into other types of cells.

We may be looking at a world where injuries can be treated by regenerating the affected organ.

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US$10 Million Contest to Sequence Centenarian Genome


Pharmacy Benefit Manager (PBM) company, Medco Health Solutions Inc, held a contest on which laboratory can accurately and economically sequence 100 genomes. The genome sequence should focus on the DNA of people over 100 years old.

The prize? US$$10 million.

Geneticist Craig Venter says, "All the technology that people are buying now gives slightly different answers. That means by definition they are not good enough for diagnostics."

Difference in standards among medical companies complicate the quality, speed and accuracy of the tests. Achieving a medical standard can address this. Companies involved in this line of business includes Applied Biosystems, Illumina and Complete Genomics. And all of them have their own standards.

The aim is to achieve a "medical grade" standard for gene sequencing that could be used for personalizing medical treatment based on the person's genes.

Craig Venter is known for being one of the first to sequence the human genome. He also created the first cell with a synthetic genome in 2010. He is now working with the US Food and Drug Administration (FDA) to come up with an agreed upon definition "to take genomics to the next grade".

Video: Sequencing the human genome:


100 centenarians are currently being selected and their genomes will be given to laboratories on Jan 2013. The contest will end on Feb 2013. Laboratory teams will compete on the accuracy, cost, speed and completeness of genome sequencing. The first team to accurately sequence the whole genome of the 100 subjects within the time period of 30 days will get the US$10 million prize. The allowable error rate for the competition should be less than one per million base pairs.

If successful, Venter believes that this will innovate and open up a whole new possibility in treating medical conditions.

Unlike embryonic stem cell research, genome technology would allow scientists and geneticists to create a cell from a synthetic genome structure. That cell can be designed to address a medical condition or biological defect.

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