Sunday, June 14, 2009

Blood and Lymph Diseases

s most of the cells in the human body are not in direct contact with the external environment, the circulatory system acts as a transport system for these cells. Two distinct fluids move through the circulatory system: blood and lymph. Blood carries oxygen and nutrients to the body's cells, and carries waste materials away. Blood also carries hormones, which control body processes, and antibodies, to fight invading germs. The heart is the pump that keeps this transport system moving. Together, the blood, heart, and blood vessels form the circulatory system.

The lymphatic system (lymph, lymph nodes and lymph vessels) supports the circulatory system by draining excess fluids and proteins from tissues back into the bloodstream, thereby preventing tissue swelling. It also serves as a defense system for the body, filtering out organisms that cause disease, producing white blood cells, and generating antibodies.

The biochemical make up of lymph — the fluid found in the lymphatic vessels — varies with the site of origin. For example, lymph from bone marrow, spleen, and thymus have high concentrations of white blood cells for fighting infection, while lymph from intestines is high in fat that has been absorbed during digestion. Damage to the lymphatic and circulatory systems leaves the body more susceptible to sickness and infection, as well as to serious conditions such as cancer.

Gaucher disease

Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. In people with Gaucher disease, the body is not able to properly produce this enzyme, and the fat can not be broken down. It then accumulates, mostly in the liver, spleen, and bone marrow. Gaucher disease can result in pain, fatigue, jaundice, bone damage, anemia, and even death.

Gaucher disease is considerably more common in the descendants of Jewish people from Eastern Europe (Ashkenazi), although individuals from any ethnic group may be affected. Among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general public, Gaucher disease affects approximately 1 in 100,000 persons. According to the National Gaucher Foundation, 2500 Americans suffer from Gaucher disease.

In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Performed on an outpatient basis, the treatment takes about 1–2 h and is given every 2 weeks. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life.

Clusters of Orthologous Groups

COGs
Phylogenetic classification of proteins encoded in complete genomes
Clusters of Orthologous Groups of proteins (COGs) were delineated by comparing protein sequences encoded in complete genomes, representing major phylogenetic lineages. Each COG consists of individual proteins or groups of paralogs from at least 3 lineages and thus corresponds to an ancient conserved domain.
66 genomes
38 orders
28 classes
14 phyla

Unicellular clusters FTP Initial

version
Science 1997 Oct 24;278(5338):631-7,
BMC Bioinformatics 2003 Sep 11;4(1):41.
Euryarchaeota
Methanobacteriales Mth
Methanococcales Mja
Halobacteriales Hbs
Thermoplasmatales Tac Tvo
Thermococcales Pho Pab
Archaeoglobales Afu
Methanopyrales Mka
Methanosarcinales Mac

Crenarchaeota
Thermoproteales Pya
Sulfolobales Sso
Desulfurococcales Ape

Ascomycota
Saccharomycetales Sce
Schizosaccharomycetales Spo

Microsporidia
Apansporoblastina Ecu
Aquificae
Aquificales Aae

Thermotogae
Thermotogales Tma

Cyanobacteria
Nostocales Nos
Chroococcales Syn

Deinococcus-Thermus
Deinococcales Dra

Fusobacteria
Fusobacterales Fnu

Spirochaetes
Spirochaetales Tpa Bbu

Chlamydiae
Chlamydiales Ctr Cpn
Actinobacteria
Actinomycetales Cgl Mtu MtC Mle

Firmicutes
Clostridiales Cac
Bacillales Sau Lin Bsu Bha
Lactobacillales Lla Spy Spn
Mycoplasmatales Uur Mpu Mpn Mge

Proteobacteria
Pseudomonadales Pae
Enterobacteriales Eco EcZ Ecs Ype Sty Buc
Xanthomonadales Xfa
Vibrionales Vch
Pasteurellales Hin Pmu
Burkholderiales Rso
Neisseriales Nme NmA
Campylobacterales Hpy jHp Cje
Caulobacterales Ccr
Rhizobiales Atu Sme Bme Mlo
Rickettsiales Rpr Rco

Upcoming microbial genomes
genomes genera orders classes phyla
261 126 63 33 17
[N] Nano
[A] Euryarchaeota (8)

* Methanobacteria * Methanococci
* Methanomicrobia * Halobacteria
* Thermoplasmata * Thermococci
* Archaeoglobi * Methanopyri
[R] Creno (3)
[D] Deinococcus (2)
[T] Actinobacteria (3)
[P] Proteobacteria (26)

α
(6)
β
(5)
γ
(10)
δ
(4)
ε
(1)
[O] Other (9)
*
Bacteroidetes
*
Chlorobi
*
Fusobacteria
*
Aquificae
*
Chloroflexi
*
Thermotogae
*
Planctomycetes
*
Spirochaetes
*
Chlamydiae
[F] Firmicutes (7)

Mollicutes (3)
Bacilli (2)
Clostridia (2)
[C] Cyanobacteria (4)

* Gloeobacteria
* Nostocali
* Prochlorali
* Chroococcali






Eukaryotic Clusters FTP
Code Name Abbreviation
A Arabidopsis thaliana
(thale cress)
ath
C Caenorhabditis elegans
(worm)
cel
D Drosophila melanogaster
(fruit fly)
dme
H Homo sapiens
(human)
hsa
Y Saccharomyces cerevisiae
(baker yeast)
sce
P Schizosaccharomyces pombe
(fission yeast)
spo
E Encephalitozoon cuniculi
(Microsporidia)
ecu

Upcoming eukaryotic genomes
O Oryza sativa
(rice)
osa
Q Anopheles gambiae
(mosquito)
aga
Z Pan troglodytes
(chimpanzee)
ptr
W Canis familiaris
(dog)
cfa
M Mus musculus
(mouse)
mmu
R Rattus norvegicus
(rat)
rno
Ascomycota genomes including
L Magnaporthe grisea mgr
N Neurospora crassa ncr


Using GPS Phones to Track Virtual Infections - and Real Epidemics

Japanese wireless carrier Softbank has planned tests that track the progression of a virtual disease using GPS-enabled cellphones belonging to schoolchildren as they go through a routine day of classes. The experiment in virtual epidemic monitoring is meant to find new ways to use Japan's well-appointed wireless data networking systems to inform the public and prevent the spread of real diseases.

A few months from now, a highly contagious disease will spread through a Japanese elementary school. The epidemic will start with several unwitting children, who will infect others as they attend classes and wander the halls.

If nothing is done, it will quickly gain momentum and rip through the student body, then jump to parents and others in the community. However, officials will attempt to stymie the disease and save the school -- using mobile phones.

The sickness will be a virtual one, in an experiment funded by the Japanese government. A subsidiary of Softbank, a major Japanese Internet and cellular provider, has proposed a system that uses phones to limit pandemics.

Fast-Acting Epidemic

The exact details have yet to be fixed, but Softbank hopes to pick an elementary school with about 1,000 students and give them phones equipped with GPS. The locations of the children will be recorded every minute of the day and stored on a central server.

A few students will be chosen to be considered "infected," and their movements over the previous few days will be compared with those of everyone else. The stored GPS data can then be used to determine which children have crossed paths with the infected students and are at risk of having contracted the disease.

The families of exposed students will be notified by messages to their mobile phones, instructing them to get checked out by doctors. In a real outbreak, that could limit the rate of new infections.

"The number of people infected by such a disease quickly doubles, triples and quadruples as it spreads. If this rate is decreased by even a small amount, it has a big effect in keeping the overall outbreak in check," said Masato Takahashi, who works on infrastructure strategy Click here to get the Free Email Design No-No's Guide from Lyris -- includes the top 10 things you need to know. at Softbank.

He demonstrates with a calculation: If an infected person makes about three more people sick per day, and each newly infected person then makes another three people sick, on the 10th day about 60,000 people would catch the disease. If each sick person instead infected two people a day, on the 10th day about 1,500 people would get sick.

GPS Tracking

The experiment was conceived before the current outbreak of swine flu, but has drawn fresh attention now that Japan has the highest number of confirmed cases outside of North America.

It is one of 24 trials the government recently approved as part of a program to promote new uses for Japan's Internet and cellular infrastructure. The country boasts some of the most advanced mobile phone technology in the world. It is blanketed in high-speed cellular networks, and phones come standard with features like GPS, TV and touchless train passes.

The mobile phone market is largely saturated, however, and fees are being driven down by an ongoing price war. For Softbank, a government-backed health-monitoring service could be boon to business.

GPS has its shortcomings, including hazy readings indoors. However, Softbank believes it could keep readings accurate to several yards, at least for an experiment in a limited area.

Until now, technologies like GPS have mainly been used to help people figure out where they are and what is nearby. As networked devices like the iPhone become more popular, new applications let people track their children or friends, and could give companies and governments access to their location.

Aoyama Gakuin University, a prestigious school in Tokyo, is giving Apple's (Nasdaq: AAPL) More about Apple iPhone 3G More about 3G to students, partially as a way to check attendance via GPS readings from an application running on the phone.

That kind of project raises privacy concerns, and one of the goals of the Japanese experiment is to judge how participants feel about having their location constantly recorded.

Incoming Text: You're Infected

If a disease-tracking system were launched for real, no one would be required to sign up, said Takuo Imagawa, an official at the Ministry of Internal Affairs and Communications.

Another concern for the experiment is how to inform people that they may be infected, even if it's just a virtual disease.

"If we don't think carefully about the nature of the warning, people that get such a message could panic," said Katsuya Uchida, a professor at the Institute of Information Security in Yokohama. Uchida serves on a board that evaluates such proposals for the government.

Softbank Telecom, the subsidiary that made the original proposal, might not be chosen by the ministry to run the experiment in the fall. However, Takahashi says that whichever company is chosen, he hopes the potential benefits of a monitoring system are enough to persuade people to sign up and reveal their whereabouts.

"I think it would have a bigger impact than Tamiflu," he said.

Sunday, June 7, 2009

Emerging Biotechnology Cluster

Boston, San Francisco, San Diego, and Cambridge are on everyone’s list of the top biotech clusters. Medicon Valley, straddling the border of Sweden and Denmark, Switzerland’s BioValley, Seattle, and Paris may be on that list, too, and no wonder. These are areas where biotech thrives. Biotech is so successful at attracting brainpower, related industries, and money to regions that today almost everybody is trying to get into the act.

Obviously, some regions will fare better than others. Many of these clusters have formed because of local political interest. “Consequently, many of the clusters don’t reach critical mass,” notes Willy DeGreef, secretary general, EuropaBio.

There are many great research universities throughout the world, and most regions with a nascent biotech industry have at least one. Good ideas and the scientific capital to bring them to fruition, therefore, are plentiful. It’s the business aspects of growing a biotech cluster that are often most difficult, and that can make the difference between success and mediocrity or even failure. As Glen Giovannetti, global biotech leader at Ernst & Young, points out, “The secret sauce for biotech success is experienced venture capital, experienced management, and a serial entrepreneurial culture.”

GEN talked with a number of biotech industry thought leaders to identify some of the most promising emerging biotech clusters. One point they all made is that it’s nearly impossible to choose the best, and that even the term biotech is hard to define. The term “emerging” had some challenges, too. Nonetheless, here are some of the regions that are capturing their attention.

Belo Horizonte, São Paulo, and Rio de Janeiro are the three leading biotech clusters. Generic manufacturers are currently predominant, but they realize the need for innovative new compounds, according to Sarah Frew, Ph.D., research associate at McLaughlin-Rotman Centre for Global Health at the University Health Network and the University of Toronto.

The biotech sector is dominated by small to medium-sized companies that are focused on agriculture, although some small innovative drug firms exist. Collaborations tend to be with Brazilian universities and with foreign companies, but not with other Brazilian companies, and usually are for services like marketing or for access to information. Private financing remains challenging, and public funds are limited.

Belo Horizonte, in the northern part of the country, is the capital of Minas Gerais, and was Brazil’s first planned city. It has three universities, including the University of Minas Gerais, which is known for its science and technology. The Biominas Foundation also is located in Belo Horizonte. The Foundation has helped 33 biotech companies generate business opportunities since its inception in 1990, and its Incubator of Companies program has introduced 21 start-ups to the market since 1997. Biominas is an active lobbyist for the biotech industry, and its officers have close ties to the government and to the venture capital community.

São Paulo is home to the Butantan Institute, which is one of two vaccine suppliers to the Brazilian Program for National Immunization (PNI), universities, and to Intrials, which claims to be the largest full-service clinical trials research organization in Brazil.

Rio de Janerio has the Oswaldo Cruz Foundation, which plays a major role in developing healthcare products. The Immunobiologicals Technology Institute, known as Biomanguinhos, is the other vaccine supplier to the PNI and is located in Rio.

Canada

Both Toronto and Vancouver have good, small companies, but they’re struggling for capital. They have the benefit of government support and strong universities, particularly the University of Toronto, the University of Guelph, and the University of British Columbia. Entrepreneurship skills need to be honed, however.

In the heart of Toronto, the MaRS Center incubates a host of companies within about a mile of five teaching hospitals, the University of Toronto, the provincial parliament, and the financial district. The local government takes a close interest in the Center’s success, and several promising research projects are moving toward commercialization.

Vancouver, on Canada’s west coast, consistently ranks as a fast-growing cluster, attracting more than 90 companies, some with late-stage trials. The University of British Columbia has an active tech-transfer department that has spun out several companies.

China

The People’s Republic of China has declared the development of a vibrant biotech industry to be one of its top priorities, and several biotech parks have emerged. Shanghai and Beijing are home to the largest groupings of biotech companies, according to Dr. Frew. Both cities boast good universities.

“Shanghai is the new center of business and commerce in China, rivaling Hong Kong,” according to Zhu Shen, Ph.D., CEO of BioForesight. The Shanghai Zhangjiang Hi-tech Park, located in the Pudong New Area, is home to more than 3,600 companies focused on life sciences, software, and information technology. Of those, more than 250 are life sciences companies, employing a total of 20,000 life sciences professionals. About half the Park revenues are from life sciences, Dr. Shen adds.

The Zhangjiang Drug Valley, as that park is nicknamed, has developed 17 square kilometers of the 25 square kilometers within the park. Companies include 7 of the top 10 big pharma companies and more than 110 indigenous CRO or outsourcing firms, novel drug discovery firms, contract manufacturers, and others. Nearby organizations include the Shanghai Institute for Biological Sciences, and Shanghai University of Traditional Chinese Medicine.

About 80 kilometers west, “Suzhou BioBay is hungrier and more aggressive, and focuses on early-stage and innovative companies,” Dr. Shen says. “Government officials at Suzhou BioBay and at Suzhou Industrial Park tend to be younger, energetic, and well-versed in English and Western-style business operations.” The parks are known for consistent policies, pro-business mentalities, and large private funding networks.

Beijing is home to numerous government agencies and savvy entrepreneurs who know how to work with government. The Beijing Zhong-guan-cum Life Science Park is one of China’s older biotech parks, Genzyme and Bayer Schering both have announced plans to develop R&D centers there. The Institute of Biotechnology, Beijing Normal University, Peking University, Beijing University, and other universities are located here.

Although China in general has some cost advantages, thought leaders say they still hear concerns about intellectual property “which is getting better,” Giovanneti points out. As yet the companies and universities are doing discovery research, and clinical trials, but the industry hasn’t yet moved into late-stage research.

India

“There’s been a lot of activity here in public/private partnerships for biotech parks,” Giovannetti says. Overall, the region is still strong in generics, but some innovative companies are coming out of Genome Valley, about 20 miles from Hyderabad, and also from Bangalore. Within the next two to three years, India expects to have about 27 biotech parks, according to Ernst & Young.

ICICI Knowledge Park was founded in 2000 on 200 acres of land. It currently is 100% occupied, with 80,000 square feet of wet labs and about 1,400 employees onsite, according to the just-released Ernst & Young study, “Biotechnology Clusters in India”. Genome Valley also includes the Shapoorji Pallonji Biotech Park with modular wet labs, pilot plants, a business incubation center, and business support facilities. Its 140-acre phase I site is operational, and the phase II site is expected to be completed by 2015.

Hyderabad is dominated by the generics industry but has some biotech companies that are working on innovative drugs. CROs, including GVK Biosciences, are growing, spanning the gap between discovery and development. Strengths include the University of Hyderabad, which has a strong private partnership culture.

Biocon anchors the biotech industry in Bangalore. Spin-offs Syngene and Clinigene also are there, as well as the Indian Institute of Science and the Institute for Bioinformatics and Biotech. In addition, “the Biocon CEO has been a driving force for biotechnology in India,” Dr. Frew says.

“India released a biotech strategic plan last year,” Dr. Frew adds. The plan aims to streamline a confusing and bureaucratic regulatory process and, she says, “signals a willingness to work together.” The downsides to India, as well as any other developing country, Dr. Frew says, are that “tech transfer is a huge barrier,” and capital is in short supply.

France

Lille capitalizes on ties to Lille University, where Louis Pasteur developed the purification process now known as pasteurization. The Pas de Calais area around Lille has some 800 healthcare and biotech companies. The Eurasante Bio-business Park, based in Lille, currently has about 30 biotech firms employing some 3,700 people. It is growing quickly because of its proximity to major universities, seven hospitals, the Pasteur Institute, and other international institutions. The region has a well-developed infrastructure to support life science research and development.

Japan

Tokyo’s biotech cluster is patterned after the bionetworks in Chiba, Yokohama, and Tsukuba. Tokyo has a large concentration of companies focused on monoclonal research and also on stem cell research.

Universities in the city include the University of Tokyo and the Tokyo Institute of Technology, which both have graduate-level biotechnology programs. Tokyo University of Science and a long list of other schools also contribute to the scientific acumen of the city, as does its strong IT industry. The three cities comprising the Tokyo Bay Biotech cluster are close by.

Israel

In 2006, Silico Research Limited ranked Rehovot as number eight in its list of the top non-U.S. biotech clusters, citing its work in monoclonals. About 20 kilometers from Tel Aviv, Rehovot is home to the 250-acre Tamar Science Park, the Weizmann Institute of Science, as well as Hebrew University’s Faculty of Agriculture. Rehovot, which is known as Israel’s science city, has a higher than average population of university-educated citizens.

Israel has more than 900 life sciences companies. Of those, 55% are devoted to medical devices, and about 21% are focused on biotechnology. Pharmaceuticals constitute another 12% of the market, according to ILSI. Most of the pharmaceutical companies are engaged in generics, but 25% are developing new chemical entities. The country is entrepreneurial, and companies are spinning off from the universities in Tel Aviv and Jerusalem. About 14% are at clinical stage.

Singapore

The Biopolis at the One-North corporate park has attracted some of the world’s leading researchers and also persuaded many R&D and manufacturing companies to locate facilities there. The hope is that those activities will spur local entrepreneurs. Like many emerging regions, it still needs a vibrant venture capital community. Biopolis is near the National University of Singapore and the National University Hospital.

Phase one includes seven buildings—two for the private sector and five for public institutions. Phase two, completed in 2006, brought total research space to 222,000 square meters (about 2.4 million square feet).

Biopolis is home to the Agency of Science, Technology, and Research (A*STAR), which leads the country’s scientific research and development efforts for the Ministry of Trade and Industry.




What is a gene?

he One-Gene/One-Polypeptide Hypothesis
• Beadle and Tatum concluded that genes produce their effects by specifying the structure of enzymes, and that each gene encodes the structure of one enzyme. Today, this is commonly referred to as the one-gene/one-polypeptide relationship.

How DNA Encodes Protein Structure
• Over 50 years of research has yielded clear evidence that DNA is the molecule responsible for the inheritance of traits from one generation to the next, and that DNA is divided into functional subunits, or genes, located on chromosomes.

How does DNA replicate?

The Meselson-Stahl Experiment: DNA Replication Is Semiconservative
• Meselson and Stahl demonstrated that DNA replication is semiconservative because each strand of the original duplex becomes one of the two strands in each new duplex. (p. 288)

The Replication Process

• Replication of E. coli begins at a specific origin, proceeds bidirectionally, and ends at a specific terminus.
• Many enzymes function in DNA replication, including DNA primase, which creates a short RNA primer complementary to a DNA template; DNA helicase, which unwinds the helix in front of DNA polymerase, which then synthesizes new DNA by adding nucleotides to the growing strands; and DNA ligase, which creates phosphodiester bonds between adjacent Okazaki fragments.
• Replication can be divided into three stages: initiation, elongation, and termination.

Eukaryotic DNA Replication
• The major difference between prokaryotic and eukaryotic replication is that eukaryotic chromosomes have multiple replication origins, whereas prokaryotic chromosomes have a single point of origin.

What is the structure of DNA?

The Chemical Nature of Nucleic Acids
• Both DNA and RNA are formed of nucleotides joined together in series. Each nucleotide is composed of a five-carbon sugar, a phosphate group, and a nitrogen-containing base.
• Chargaff's Rule states that in reference to the nitrogen-containing bases, adenine always pairs with thymine, and guanine always pairs with cytosine. Thus, there are always equal proportions of purines and pyrimidines.

The Three-Dimensional Structure of DNA
• Franklin was able to obtain the first glimpse of DNA using X-ray diffraction in 1953, while Watson and Crick theorized that DNA exists in a double-helical, antiparallel configuration.
• Using a spiral staircase analogy, the handrails of the staircase represent the sugar-phosphate backbone of the DNA double helix, and the steps represent the hydrogen-bonded base pairs.

DNA : The Genetic material

1) What is the genetic material?

The Hammerling Experiment: Cells Store Hereditary Information in the Nucleus

• Hammerling conducted a series of experiments and discovered that hereditary information in Acetabularia resided in the foot, which is also the location of the nucleus.

Transplantation Experiments: Each Cell Contains a Full Set of Genetic Instructions
• Later experiments in the mid-1950s showed that the nucleus of eukaryotic cells includes a full set of genetic information.

The Griffith Experiment: Hereditary Information Can Pass Between Organisms
• Griffith found that transformation occurs when genetic material is transferred from one cell to another, and that live cells can be transformed by dead cells.

The Avery and Hershey-Chase Experiments: The Active Principle Is DNA
• Avery provided conclusive evidence that DNA is the heredity material for the bacterial specimens under investigation.
• Hershey and Chase provided further evidence that heredity material in bacteriophages was found in DNA, not in proteins.

Saturday, June 6, 2009

The Molecular Analysis of a Human Mutation

Labels:
How does one proceed when one has a patient with a genetic disorder known or suspected to be due to a mutation in a particular gene? For example, consider a patient with a diagnosis of β-thalassemia, an autosomal recessive defect in the β-globin gene. The initial diagnosis is generally made on the basis of clinical and hematological findings alone. However, it is important to examine the gene itself, first to confirm the clinical diagnosis and second, to determine the specific mutation in the β-globin locus both for future use in carrier testing and possible prenatal diagnosis in the patient's family, and for increasing the understanding of the relationship between specific mutations in the gene and the resulting patho-psychology.Several tests can be used initially to examine the gross integrity of the β-globin gene itself and its mRNA. Is the gene present in the patient in both normal amount (i.e., two copies) and structure? Or is one or both copies of the gene deleted or structurally rearranged, as has been described in some cases of β-thalassemia? If the gene is present, is it transcribed? The Southern blotting technique is now a standard method for using a cloned gene probe (in this case, for the β-globin gene) to examine the integrity of a DNA sample. Southern blotting can address the question of whether it is grossly normal in structure. By this method one can detect large molecular defects that are well below the level of sensitivity of chromosome analysis. However, as currently used in diagnostic laboratories, it cannot reveal the presence of single mutations, such as base-pair changes or very small deletions of only a few base pairs. In order to examine whether mRNA is present, a technique called Northern blotting is used. This approach also enables one to detect major changes in mRNA levels or structure for a specific gene, but not to detect minor alterations.Having asked whether there are gross changes in the gene or in its mRNA, one can proceed to a number of methods developed to examine gene structure and expressions at increasingly finer levels of analysis. In β-thalassemia, as in many other genetic disorders, particular mutations responsible for the disease in other patients. To determine whether one of these already known mutations is responsible for a particular case of β-thalassemia, one can apply particular direct molecular tests. Some of these entail the approach of allele-specific oligonucleotides (ASOs) that enable one to detect specific single base-pair mutations. In addition, it may be desirable to actually clone the mutant β-globin genes (or cDNAs) from the patient for comparison with a normal β-globin gene. Cloning of individual mutant genes (or portions of genes) from a patient's material is facilitated by use of polymerase chain reaction (PCR) to specifically generate many million of copies of a particular gene fragment. Once the mutant gene is isolated, one can then analyze it at the finest level possible by determining the DNA sequence of base pairs in the mutant gene for comparison with the normal gene. In this way, the specific mutation responsible for the genetic disorder in the patient can be determined and used to develop direct screening tests for that mutation in the patient's family.

The language of Molecular Cloning

Labels:
cDNA (Complementary DNA):
A synthetic DNA copied from messenger RNA (mRNA) by the enzyme reverse transcriptase. Used to refer to either a single-stranded copy or its double-stranded derivative. Usage: "a cDNA clone", "a cDNA library" or "to isolate a cDNA".
Clone:
A recombinant DNA molecule containing a gene or other DNA sequence of interest. Also, the act of generating such a molecule. Usage: "to isolate a clone" or "to clone a gene"
Host:
The organism used to isolate and propagate a recombinant DNA molecule. Usually a strain of the bacterium Escherichia coli or the yeast Saccharomyces cerevisiae. Usage: "What host did they use?"
Hybridization:
The act of two complementary single-stranded nucleic acid molecules forming bonds and becoming a double-stranded molecule. Usage: "The probe hybridized to a gene".
Insert:
A fragment of human DNA cloned into a particular vector. Usage:"They purified the insert"
Library:
A collection of recombinant clones from a source known to contain the gene, cDNA, or other DNA sequences of interest. In principle, a library may contain all the DNA sequences represented in the original cell, tissue, or chromosome. Usage: "a muscle cDNA library" or "a human genomic library"
Ligation:
The act of forming phosphodiester bonds to join two double-stranded DNA molecules with the enzyme DNA ligase. Ligation is the essential step in creating recombinant DNA molecules. Usage: "The fragments were ligated together"
Probe:
A cloned DNA or RNA molecule, labeled with radioactivity or another detectable tracer, used to identify its complementary sequences by molecular hybridization; also, the act of using such a molecule. Usage: "the beta-globin probe" or "to probe a patient's DNA"
Restriction endonucleases (restriction enzymes):
Enzymes that recognize specific double-stranded DNA sequences and cleve the DNA at or near the recognition site. Usage: "a restriction enzyme digest" (or just "a restriction digest") or "the restriction enzyme EcoRI".
Southern Blot:
A filter to which DNA has been transferred, usually after restriction enzyme digestion and gel electrophoresis to separate DNA molecules by size (named after the developer of the technique, Ed Southern); also, the act of generating such a filter and hybridizing it to a specific probe. Usage: "to probe a Southern blot" or "they did a Southern".
Vector:
the DNA molecule into which the gene or other DNA fragment of interest is cloned, capable of replicating in a particular host. Examples include plasmids, bacteriophage lambda, cosmids, and yeast artificial chromosomes. Usage: "a cloning vector" or "the cosmid vector".

Friday, June 5, 2009

A new record in sorting large amounts of data by Researchers at the Karlsruhe Institute of Technology

Researchers at the Karlsruhe Institute of Technology (KIT) has developed a new robust method for sorting large quantities of data. They beat the previous record held by the Massachusetts Institute of Technology (MIT) and, more importantly, less consumption of resources.Networked computers on the Internet produce quantities of increasingly large data. In order to treat, it is necessary, first, the following order of criteria. Efficient sorting of data is of growing importance to search engines or databases and a central research topic both in theory and in practice.For years, the Sort Benchmark, a table for free on the Internet, identifies the current record data sorting. Queen in the discipline, it is sort of the earliest at least 100 billion Byte. Prof. around. Peter Sanders, a team of researchers from the Institute for theoretical KIT imposed in two categories of Sort Benchmark. They managed to sort 100 Terabyte in less than three hours, which equates to an average of 564 GB per minute. To achieve such a feat, they used a combination of computers including 200 nodes. A team of giant Yahoo has exceeded the value of 564 GB per minute, but had to use to this end, 17 times more nodes.In addition, researchers of KIT increased the record number of records that can be sorted in one minute. This value amounted to 950 GB. This is three times more than the previous record held by MIT and two times more than the record for Yahoo in this category. KIT researchers have also improved the record for Google to sort the fastest one Terabyte down the record from 68 to 64 seconds, again with a lower consumption of resources.

World Environment Day: "Your planet needs you"

World - It now stands as the World Day of Environment. An event that was created in 1972 by the United Nations and the 2009 edition which is of course under the banner of the fight against global warming."Your planet needs you - united against climate change", here the theme of World Environment Day during which many events are held around the world.While the Copenhagen summit is close upon us, it is now for the UN to raise awareness about the urgent and necessary fight against climate change, so that it agrees also in the way sustainable development.The United Nations intend to "promote an understanding that communities are essential in changing attitudes" and "defend the partnership which will ensure all nations and peoples enjoy a safer future and more prosperous."For the 2009 edition of this day is the Mexico that is showcased. The country was chosen by the United Nations Environment Program (UNEP) in particular for its commitment to the "1 Billion Trees". "Mexico, with the support of its president and its people, has invested heavily in this commitment and has planted 25 percent of the trees in this campaign," says the UN. Since its launch in 2006, 3 billion trees were planted, and the end of 2009, this figure expected to reach 7 billion.Animations, conferences, cleaning operations or planting, concert events will take place all day and throughout the world in the fight against global warming.

Spacebel recently delivered ground software for the mini observatory sun "Picard"

The engineering company Liège Spacebel, developed the center's scientific mission Picard, the 150 kg microsatellite whose mission will be to study solar activity. Two versions of the mission center were carried out successively to adapt to the integration of the satellite. Spacebel has just completed a successful delivery and installation of the final version to the observatory at Uccle plateau Uccle where the scientific data recorded by satellite will be treated. While waiting for the launching of Picard from Russia, on November 30, the mission center is used to test the whole system (satellite control center and center of mission).The center of scientific expedition Picard fulfills various essential functions. It will provide the programming of the payload, ie scientific instruments aboard the satellite, and at the same time check the health of them. In addition, it will centralize all requests for acquisition of images, receive, process and archive the data collected by the instruments and make them available in science laboratories."Picard" concerns a scientific observation of the Sun which is in the pipeline Myriade Center National d'Etudes Spatiales (CNES), the French space agency. Its purpose is twofold: firstly, knowledge of the operation and the physical structure of the star and, on the other hand, better understand the influence of solar activity on Earth's climate. Named in honor of the french astronomer Jean Picard (1620-1682), who made the first precision measurements of the solar diameter in the seventeenth century, Picard will have a lifetime in orbit of 3 years. A team of 3 engineers worked for 2 years on this project, which represents a turnover of around 1.1 million. Based in Liege Science Park Angleur the company was founded in 1988 in the context of economic and political integration of Europe and the role of Belgium in space research.By contributing to the success of many programs initiated by the European Space Agency, Spacebel has built a name in the space field. Its systems to measure and fit high performance platforms and instruments on board satellites, ground facilities for receiving, processing and dissemination of data recorded aboard the satellite, test benches and related products (simulators and emulators ) networks and satellite communications.With the resumption of the Da Vinci in 1998, Spacebel has extended its activities to the enhancement of images taken by satellites to Earth observation. It develops and markets systems to support decision making for land management, environment, natural disasters.