2014 May

Archive for May, 2014

Gene behind highly prevalent facial anomaly found

May 11th, 2014

Whitehead Institute scientists have identified a genetic cause of a facial disorder known as hemifacial microsomia (HFM). The researchers find that duplication of the gene OTX2 induces HFM, the second-most common facial anomaly after cleft lip and palate.

HFM affects approximately one in 3,500 births. While some cases appear to run in families, no gene had been found to be causative. That is until Whitehead Fellow Yaniv Erlich and his lab set out to do just that. Their work is described in this week's issue of the journal PLOS ONE.

Patients with HFM tend to have asymmetrical faces, --typically with one side of the upper and lower jaws smaller than the opposite side--a smaller or malformed ear on the affected side, and, in some cases, neurological or developmental abnormalities.

Thought to be brought on by circulation difficulties during embryonic development, HFM is also thought to be sporadic -- meaning that it occurs spontaneously rather than through inheritance. However, one family in northern Israel has more than its share of the anomaly.

To identify the origin of this family's disorder, Erlich and lab technician Dina Zielinski began studying the genomes of a five-year-old female member of the family, along with those of her mother, grandmother, and male cousin, who all exhibited traits of HFM. Later, the genetic information from the grandmother's Russian cousin, who resides in the Philadelphia area, was recruited to the study.

"What's unique here is that this is the largest family with this disorder described in the literature," says Erlich. "Most of the time, you see one person affected, or perhaps two people -- a parent and a child. Such a large family increases the power of the genetic study and clearly signals that there is a genetic component to a disease."

To find the cause of this family's HFM, Zielinski began by searching for a point mutation, but the five of the study participants held no such mutation in common. Next she looked for sections of the genome that are duplicated. All had an extra copy of one 1.3 megabase pair section of chromosome 14. Duplications this large are frequently detrimental.

Within this large piece of DNA, Zielinski identified eight candidate genes that could cause the type of HFM running in this family. She then used two algorithms to compare the molecular signatures of these eight genes to other genes known to be responsible for various facial malformations with features similar to HFM. After this analysis, the gene OTX2 that codes for a transcription factor rose above the seven other candidates.

These results are supported by what is known of OTX2's function. Previous data indicates that the gene codes for a protein that is expressed in the heads and pharyngeal arches of mouse embryos in developmental stages corresponding to the periods when HFM abnormalities are thought to arise in humans.

Although this is a tantalizing hint as to OTX2's activity during development, Zielinski cautions that little is known about its overall role, in part because it serves as a transcription factor that regulates other genes.

Original post:
Gene behind highly prevalent facial anomaly found

Comments Closed|

Genetic approach helps design broadband metamaterial

May 11th, 2014

A specially formed material that can provide custom broadband absorption in the infrared can be identified and manufactured using "genetic algorithms," according to Penn State engineers, who say these metamaterials can shield objects from view by infrared sensors, protect instruments and be manufactured to cover a variety of wavelengths. "The metamaterial has a high absorption over broad bandwidth," said Jeremy A. Bossard, postdoctoral fellow in electrical engineering.

"Other screens have been developed for a narrow bandwidth, but this is the first that can cover a super-octave bandwidth in the infrared spectrum."

Having a broader bandwidth means that one material can protect against electromagnetic radiation over a wide range of wavelengths, making the material more useful. The researchers looked at silver, gold and palladium, but found that palladium provided better bandwidth coverage.

This new metamaterial is actually made of layers on a silicon substrate or base. The first layer is palladium, followed by a polyimide layer. On top of this plastic layer is a palladium screen layer. The screen has elaborate, complicated cutouts -- sub wavelength geometry -- that serve to block the various wavelengths. A polyimide layer caps the whole absorber.

"As long as the properly designed pattern in the screen is much smaller than the wavelength, the material can work effectively as an absorber," said Lan Lin, graduate student in electrical engineering. "It can also absorb 90 percent of the infrared radiation that comes in at up to a 55 degree angle to the screen."

To design the necessary screen for this metamaterial, the researchers used a genetic algorithm. They described the screen pattern by a series of zeros and ones -- a chromosome -- and let the algorithm randomly select patterns to create an initial population of candidate designs. The algorithm then tested the patterns and eliminated all but the best. The best patterns were then randomly tweaked for the second generation.

Again the algorithm discarded the worst and kept the best. After a number of generations the good patterns met and even exceeded the design goals. Along the way the best pattern from each generation was retained. They report their results in a recent issue of ACS Nano.

"We wouldn't be able to get an octave bandwidth coverage without the genetic algorithm," said Bossard. "In the past, researchers have tried to cover the bandwidth using multiple layers, but multiple layers were difficult to manufacture and register properly."

This evolved metamaterial can be easily manufactured because it is simply layers of metal or plastic that do not need complex alignment. The clear cap of polyimide serves to protect the screen, but also helps reduce any impedance mismatch that might occur when the wave moves from the air into the device.

"Genetic algorithms are used in electromagnetics, but we are at the forefront of using this method to design metamaterials," said Bossard.

More here:
Genetic approach helps design broadband metamaterial

Comments Closed|

Atlas shows how genes affect our metabolism

May 11th, 2014

PUBLIC RELEASE DATE:

11-May-2014

Contact: Mark Thomson press.office@sanger.ac.uk 01-223-492-384 Wellcome Trust Sanger Institute

In the most comprehensive exploration of the association between genetic variation and human metabolism, researchers have provided unprecedented insights into how genetic variants influence complex disease and drug response through metabolic pathways.

The team has linked 145 genetic regions with more than 400 molecules involved in human metabolism in human blood. This atlas of genetic associations with metabolism provides many new opportunities to understand the molecular pathways underlying associations with common, complex diseases.

Metabolic molecules, known as metabolites, include a wide range of different molecules such as vitamins, lipids, carbohydrates and nucleotides. They make up parts of, or are the products of, all biological pathways. This new compendium of associations between genetic regions and metabolite levels provides a powerful tool to identify genes that could be used in drug and diagnostic tests for a wide range of metabolic disorders.

"The sheer wealth of biological information we have uncovered is extraordinary," says Dr Nicole Soranzo, senior author from the Wellcome Trust Sanger Institute. "It's exciting to think that researchers can now take this freely available information forward to better understand the molecular underpinnings of a vast range of metabolic associations."

May 11th, 2014

Standing next to each other, Kayla Saikaly and Adi Versano looked like sisters. Their families marveled at the similarities both with dark hair and wearing peach-colored dresses. But not only are they unrelated, they live half a world apart.

"They are sisters, genetically," said Saikaly's mother, Samar.

Saikaly, 17, and Versano, 27, met for the first time Friday at City of Hope hospital in Duarte. Saikaly, who lives in Cerritos, suffers from aplastic anemia, a condition in which the bone marrow doesn't produce enough blood cells and cripples the immune system. Two years ago, her doctors told her that she needed a bone marrow transplant.

When neither her parents nor her brother were a match, a search in the international bone marrow registry found a donor in Israel Versano. The transplant was successful, and Saikaly is healthy and back in school.

Recipients in the United States aren't allowed to learn their donor's identity or communicate with them for a year. And even when they can talk to them, they often are separated by distance and don't meet. A tearful Saikaly said she was thrilled that Versano had come from Israel to meet her.

"I think it's important because you can at least say thank you, because it's the least you can do because there's no way you'll ever be able to repay them for what they did for you," Saikaly said.

Versano said that being a donor is "the most important thing you can do." Versano is an assistant kindergarten teacher who is studying to be a special education teacher. The hospital paid for her to come to California.

City of Hope has been hosting yearly reunions for bone marrow, stem cell and cord blood transplant recipients, donors and their families. About 4,000 people attended Friday's event, which featured music, face painting, a comedy show, a moon bounce, a popcorn stand and cartoonists drawing people's portraits.

The hundreds of transplant recipients who attended wore large buttons that displayed the time that has elapsed since their successful transplants. Volunteers cheered as they registered the patients and wrote the numbers on the buttons: "20 years! 100 days! 6 months!" People at the event noted the times on others' buttons, looking for people who have survived longer than themselves or their loved ones.

Some transplant recipients attended the event with their donors; others came with their family and have never met their "genetic twin."

See the original post here:
City of Hope hosts reunion of bone marrow donors, recipients

Comments Closed|

Knee arthritis/torn meniscus 6 months after stem cell therapy by Dr Harry Adelson – Video

May 11th, 2014

Knee arthritis/torn meniscus 6 months after stem cell therapy by Dr Harry Adelson
Alan discusses his results six months after stem cell therapy by Dr Harry Adelson for treatment of his arthritic knees and torn menisci http://www.docereclinics.com.

By: Harry Adelson, N.D.

Original post:
Knee arthritis/torn meniscus 6 months after stem cell therapy by Dr Harry Adelson - Video

Comments Closed|

Man believed to be offering stem-cell therapy without a license – Video

May 11th, 2014

Man believed to be offering stem-cell therapy without a license
Undercover agents arrested a man claiming to be a doctor who was providing stem-cell treatments for injured athletes. Authorities say the man has no medical professional licenses.

By: WPBF 25 News

View post:
Man believed to be offering stem-cell therapy without a license - Video

Comments Closed|

Low back disc pain 3 months after stem cell therapy by Dr Harry Adelson – Video

May 11th, 2014

Low back disc pain 3 months after stem cell therapy by Dr Harry Adelson
Brian discusses his results from the bone marrow stem cell injection into his lumbar discs performed by Dr Harry Adelson http://www.docereclinics.com.

By: Harry Adelson, N.D.

See the original post:
Low back disc pain 3 months after stem cell therapy by Dr Harry Adelson - Video

Comments Closed|

Genetic Engineering with Nadia Ayoub – Video

May 11th, 2014

Genetic Engineering with Nadia Ayoub
Humans have manipulated genes for thousands of years to make better crops and domesticate animals. But in the last century, the ability to transfer genes fro...

By: Washington and Lee University

Read the original:
Genetic Engineering with Nadia Ayoub - Video

Comments Closed|

New life engineered with artificial DNA

May 11th, 2014

(CNN) -

All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.

Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.

"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.

Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.

The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.

"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."

How they did it

For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.

Normally, the genetic code consists of four nucleotide bases: adenine (A), cytosine (C), guanine (G) and thymine (T). In DNA, guanine always pairs with cytosine and adenine with thymine.

Read the original here:
New life engineered with artificial DNA

Comments Closed|