some of the discovery in genetics

 1)Epilepsy gene LGI2
Everyone knows that DNA is nature’s most basic building block, with many species sharing similar, if not identical, versions of the same genes. But it can be easy to forget just how universal it really is. Take epilepsy gene LGI2 for example. It was actually first discovered inLagotto Romagnolo dogs (better known as the dogs used to track down underground mushrooms known as Truffles), but has implications for better understanding childhood epilepsy.

Epilepsy is the most common neurological condition in children. The gene discovery was made by a group of researchers at the University of Helsinki led by Dr. Hannes Lohi, who says it will open up many avenues of research that will provide insight into the mechanisms underlying neurological development in the adolescent brain.

2) BOULE, the world’s most universal sexy gene
We say “sexy gene.” By that, we mean a gene specific to sex. Last year, researchers at Northwestern University Feinberg School of Medicine discovered that the gene BOULE is not only responsible for sperm production, it’s actually the first known gene to be required for sperm production in species ranging from insects to mammals.

“This is the first clear evidence that suggests our ability to produce sperm is very ancient, probably originating at the dawn of animal evolution 600 million years ago,” said Eugene Xu, who led the study. “Our findings also show that humans, despite how complex we are, across the evolutionary lines all the way to flies, which are very simple, still have one fundamental element that’s shared.”

Discovery of the gene’s linchpin role in sperm production have countless potential applications in the public health sector, including male contraception, male infertility, and even development of pesticides to fight against disease-carrying parasites.

3) SIGMAR1 mutation causes juvenile ALS
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a devastating neurodegenerative disorder characterized by the loss of motor neurons in the brain and spinal cord. When the disease begins progressing before the age of 25 — as it did in physicist Stephen Hawking — it is known as juvenile ALS.

The genetic underpinnings of ALS are poorly understood, so the discovery of genetic associations always has exciting implications for new areas of research. Just this month, researchers from the Kingdom of Saudi Arabia identified a mutation on the SIGMAR1 gene associated with the development of juvenile ALS. The gene affects a class a proteins the authors suspect is involved in motor neuron function and movement disorders, and is one that the researchers say could soon become a potential therapeutic target.

4) MYB-NFIB Fusion gene found in 100% of examined adenoid cystic carcinomas
Fusion genes are created when a chromosomal mutation causes two otherwise healthy genes to join together. For many years, it was believed that fusion genes were implicated only in blood and bone marrow cancers like leukemia, but a recent study by researchers at the Sahlgrenska Academy at the University of Gothenburg, Sweden found that the MYB-NFIB fusion gene was found in 100% of adenoid cystic carcinomas — a glandular cancer usually fond in the head, neck, and breasts.

“We suggested back in 1986 that the MYB gene might be involved in this form of cancer, but it’s only recently that we’ve had access to the tools needed to prove it,” says Göran Stenman, who led the team that made the discovery. He continues:

Now that we know what the cancer is down to, we can also develop new and more effective treatments for this often highly malignant and insidious form of cancer… One possibility might be to develop a drug that quite simply turns off this gene.

5) Mutation in the PRPS1 gene linked to a progressive hearing loss in males
Postlingual nonsyndromic hearing impairment (DFN2 for short) is a rare form of progressive deafness in males. Boys with the disease have been identified in the US, Great Britain, and China, and typically begin losing their hearing between the ages of 5 and 15 and continue to experience hearing loss over the course of their lives.

University of Miami Miller School of Medicine researcher Xue Zhong Liu led a team that recently discovered that the PRPS1 gene plays an indispensable role in the development and maintenance of the middle ear. “PRPS1 is an interesting example of a human disease gene in which gain of function or loss of function mutations cause several different and distinct hereditary disorders,” said Liu.

The fact that PRPS1 is only the second identified gene associated with NFD2 makes it a groundbreaking discovery, but its role in the development of the middle ear makes it even more important. Dr. James F. Battey, director of the National Institute on Deafness and Other Communication Disorders (NIDCD) said:

This discovery offers exciting therapeutic implications…not only does it give scientists a way to develop a targeted treatment for hearing loss in boys with this disorder, it may also open doors to the treatment of other types of deafness, including some forms of acquired hearing loss.

6) The discovery of mutations in MCF2L could lead to therapies for osteoarthritis sufferers
Osteoarthritis is a debilitating disease that affects upwards of 40% of people over the age of 70, and an estimated 27 million people in the US alone. Historically speaking, the complicated nature of the condition has made it especially difficult for researchers to identify what are believed to be a number of interrelated genetic causes; despite the prevalence of osteoarthritis, only two genetic links had ever been made.

But by collaborating with The 1000 Genomes Project, an international team of scientists led by researchers at The Sanger Institute was able to conduct a massive genetic screen (eventually involving over 50,000 people) to identify a third genetic link: MCF2L.

Alan Silman, the Medical Director of Arthritis Research UK, said:

Osteoarthritis is a complicated disease with many genetic causes. However, it has proved very difficult to discover the genes involved and help us to identify potential areas of treatment.

We are delighted that investigators at the Sanger Institute have been able to identify a new gene connected with this painful condition and offer new lines of research for possible treatments. We are also excited that employing the technique of using the 1000 Genomes Project data to investigate genetic associations in far greater depth could reveal even greater insights into this debilitating disease.

7) A large scale multiple sclerosis (MS) gene study doubles the number of genes known to play a role in the disease
Research published this month in the journal Nature uncovered 29 new genes that underlie the development of MS, an inflammatory disease that leads to communication issues between nerve cells in the brain and spinal cord. The impressive genetic study drew on resources from twenty-three research groups from 15 countries; according to the researchers, their findings double the number of genes implicated in the onset and progression of MS.

“We now know just how complex multiple sclerosis is,” said geneticist Jonathan Haines, director of Vanderbilt University’s Center for Human Genetic Research (CHGR) and one of the project’s head researchers. “These new genes give us many new clues as to what is happening in MS and will guide our research efforts for years to come.”

8) RGS17 could be used to identify patients who would benefit from more aggressive lung cancer screening
Despite the fact that smoking certainly contributes to the development of lung cancer, the fact remains that a significant genetic component makes lung cancer the leading cause of cancer related disease and death. Now Cancer Biologists at the University of Cincinnati showed that identifying the gene RGS17 in patients with a history of lung cancer could help improve courses of treatment for the disease.

“Understanding how the RGS17 gene impacts cancer development could change clinical diagnosis and treatment as radically as discovery of the breast cancer genes (BRCA1 and BRCA2) did,” explains Marshal Anderson, who led the study and has headed up the multi-institutional Genetic Epidemiology of Lung Cancer Consortium (GELCC) since 1997. “A proven genetic test could help us identify people at risk before the disease progresses.”

9) Massive genetic screen uncovers 5 new genes that increase the risk of developing Alzheimer’s Disease
Cardiff University’s Julie Williams recently led the world’s largest-ever genetic investigation of Alzheimer’s, screening around 20,000 people with the disease and 40,000 unaffected individuals to identify five new Alzheimer’s-linked genes, doubling the total number of genes known to increase the risk of developing Alzheimer’s.

The results of the investigation, which were published in an April issue of Nature Genetics (no subscription required) are helping researchers identify promising new avenues of research.

Williams said: “What’s exciting is the genes we now know of – the five new ones, plus those previously identified – are clustering in patterns.” She continues:

This study, plus our previous studies, means that we are beginning to piece together the pieces of the jigsaw and gain new understanding. We still have a long way to go – but the jigsaw is beginning to come together.

If we were able to remove the detrimental effects of these genes through treatments, we hope we can help reduce the proportion of people developing Alzheimer’s in the long-term.

10) International team identifies 13 new gene sites associated with heart disease
The World Health Organization estimates that heart diseases claim upwards of 17 million lives a year, making them the world’s deadliest class of diseases. Just like lung cancer, while environmental factors like smoking and drinking certainly put people at higher risk of developing cardiovascular diseases, there is believed to be a strong genetic component to them as well.

In March of this year, an international team of scientists published the results of a study that analyzed the genetic profiles of over 80,000 people, making it the largest screen for heart-disease related genes ever conducted (around ten times larger, to be exact). The study confirmed 10 of 12 previously reported heart-disease-related genes, and identified 13 new ones.

Interestingly, many of the newly identified genes have no known relation to previously identified cardiovascular risk factors like cholesterol or hypertension, which suggests that there are promising therapeutic mechanisms yet to be discovered.

“The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results,” explains Dr. Sekar Kathiresan, the director of Preventive Cardiology at Massachusetts General Hospital and one of the study’s lead authors. “If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don’t yet understand.”

Eye Allergy

What Causes Eye Allergies

Normally harmless substances that cause problems for individuals who are predisposed to allergic reactions are called allergens. The most common airborne allergens that cause eye allergies are pollen, mold, dust and pet dander.

Eye allergies also can be caused by reactions to certain cosmetics or eye drops, including artificial tears used for treating dry eyes that contain preservatives.

Food allergies and allergic reactions to bee stings or other insect bites typically do not affect the eyes as severely as airborne allergens do.

Eye Allergy Relief

To get relief from your eye allergies and itchy, watery eyes, you can take a few approaches:

Avoiding allergens. As the old saying goes: “An ounce of prevention is worth a pound of cure.” (By the way, Benjamin Franklin said that — the same guy who invented bifocals!) The best approach to controlling your eye allergy symptoms is to do everything you can to limit your exposure to common allergens you are sensitive to.

For example, on days when the pollen count is high, stay indoors as much as possible, with the air conditioner running to filter the air. Use high quality furnace filters that can trap common allergens and replace the filters frequently.

When you do go outdoors during allergy season, wear wraparound sunglasses to help shield your eyes from pollen, ragweed, etc., and drive with your windows closed.

Removing your contacts. Because the surface of contact lenses can attract and accumulate airborne allergens, consider wearing only eyeglasses during allergy season. Or consider switching to dailydisposable contacts that you discard after a single use to avoid the build-up of allergens and other debris on your lenses.

Over-the counter eye drops. Because eye allergies are so common, there are a number of brands of non-prescription eye drops available that are formulated to relieve itchiness, redness and watery eyes caused by allergies.

If your eye allergy symptoms are relatively mild, over-the-counter eye drops for allergy relief may work very well for you and may be less expensive than prescription eye drops or other medication. Ask your eye doctor to recommend a brand to try.

EYE ALLERGY TIPS

1. Get an early start. See your eye doctor before allergy symptoms start this year to learn how to reduce your sensitivity to allergens.
2. Try to avoid what’s causing your eye allergies, whenever possible.
3. Don’t rub your eyes if they itch! This will release more histamine and make your eye allergy symptoms worse.
4. Use plenty of artificial tears to wash airborne allergens from your eyes. Ask your eye doctor for the best brands.
5. Cut down your contact lens wear or switch to daily disposable lenses to reduce the build-up of allergens on your lenses.
6. Consider purchasing an air purifier for your home, and purchase an allergen-trapping filter for your furnace.

Prescription medications. If your allergy symptoms are relatively severe or over-the-counter eye drops are ineffective at providing relief, you may need your eye doctor to prescribe a stronger medication.

Prescription eye drops and oral medications used to relieve eye allergies include:

• Antihistamines. Part of the body’s natural allergic response is the release of histamine, a substance that dilates blood vessels and making the walls of blood vessels abnormally permeable. Symptoms caused by histamine include a runny nose and itchy, watery eyes. Antihistamines reduce allergic reactions by blocking the attachment of histamine to cells in the body that produce an allergic response.
• Decongestants. Decongestants help shrink swollen nasal passages for easier breathing. They also reduce the size of blood vessels on the white (sclera) of the eye to relieve red eyes. Common decongestants include phenylephrine and pseudoephedrine. Combination drugs are available that contain both an antihistamine and a decongestant.
• Mast cell stabilizers. These medications cause changes in mast cells that prevent them from releasing of histamine and related mediators of allergic reactions. Because it may take several weeks for the full effects of mast cell stabilizers to take effect, these medications are best used before allergy season starts as a method to prevent or reduce the severity of future allergic reactions (rather than to treat acute allergic symptoms that already exist).
• Nonsteroidal anti-inflammatory drugs. NSAID eye drops may be prescribed to decrease swelling, inflammation and other symptoms associated with seasonal allergic conjunctivitis, also called hay fever.
• Steroids. Corticosteroid eye drops are sometimes prescribed to provide relief from acute eye allergy symptoms. But potential side effects of long-term use of these medications include high eye pressure,glaucoma and cataracts, so they typically are prescribed for short-term use only.

Immunotherapy. This is a treatment where an allergy specialist injects you with small amounts of allergens to help you gradually build up immunity.

EYE ALLERGIES SELF-TEST

Please mouse over the image for common causes of eye allergies.

Take this quiz to see if you might have eye allergies. Always consult your doctor if you suspect you have an eye condition needing care.

• Do allergies run in your family?
• Do your eyes often itch, particularly during spring pollen season?
• Have you ever been diagnosed with “pink eye” (conjunctivitis)?
• Are you allergic to certain animals, such as cats?
• Do you often need antihistamines and/or decongestants to control sneezing, coughing and congestion?
• When pollen is in the air, are your eyes less red and itchy when you stay indoors under an air conditioner?
• Do your eyes begin tearing when you wear certain cosmetics or lotions, or when you’re around certain strong perfumes?

If you answered “yes” to most of these questions, then you may have eye allergies. Make an appointment with an optometrist or ophthalmologist to determine the best course of action.

Eye Allergies and Contact Lenses

Contact lens discomfort is a common complaint during allergy season, leading some wearers to question whether they are becoming allergic to contact lenses.

The issue of being allergic to contacts also comes up from time to time when a person starts wearing silicone hydrogel contact lenses after successfully wearing standard soft (hydrogel) contact lenses and experiences allergy-like symptoms.

Studies have shown that the culprit behind eye allergies associated with contact lens wear is not an allergic reaction to the contact lens itself, but to substances that accumulate on the surface of the lenses.

In the case of switching from regular soft contacts to silicone hydrogel lenses, the surface and chemical characteristics of the lens material may attract lens deposits more readily than the previous lens material, causing discomfort.

Many eye care practitioners believe the best type of soft contact lenses for people prone to eye allergies are daily disposable lenses that are discarded after a single use, which decreases the build-up of allergens and other debris on the lens surface.

Silicone hydrogel often is the preferred lens material for these lenses, because it allows significantly more oxygen to pass through the lens, compared with conventional soft contact lens materials

source: Different book of ophthalmology

World’s first artificial enzymes created using synthetic biology

Medical Research Council (MRC) scientists have created the world’s first enzymes made from artificial genetic material. Their synthetic enzymes, which are made from molecules that do not occur anywhere in nature, are capable of triggering chemical reactions in the lab.

The research, published today in Natureopens in new window, gives new insights into the origins of life and could provide a starting point for an entirely new generation of drugs and diagnostics.

The findings build on previous workopens in new window by the team at the MRC Laboratory of Molecular Biologyopens in new window, which saw them create synthetic molecules called ‘XNAs’ that can store and pass on genetic information, in a similar way to DNA.

Using their lab-made XNAs as building blocks, the team has now created ‘XNAzymes’, which power simple reactions, such as cutting up or stitching together small chunks of RNA, just like naturally occurring enzymes.

Dr Philipp Holliger, who led the research at the MRC Laboratory of Molecular Biology, said:

“All life on earth depends on a series of chemical reactions, from digesting food to making DNA in our cells. Many of these reactions are too sluggish to happen at ambient temperatures and pressures, and require enzymes to kick-start or ‘catalyse’ the process.”

Every one of our cells contains thousands of different enzymes, many of which are proteins. But some of the key fundamental reactions necessary for life are performed by RNA, a close chemical cousin of DNA. Life itself is thought to have begun with the evolution of a self-copying RNA enzyme.

Dr Holliger explains: “Until recently, it was thought that DNA and RNA were the only molecules that could store genetic information and, together with proteins, the only biomolecules able to form enzymes. Our work suggests that, in principle, there are a number of possible alternatives to nature’s molecules that will support the catalytic processes required for life. Life’s ‘choice’ of RNA and DNA may just be an accident of prehistoric chemistry.

Dr Alex Taylor, the study’s first author in Phil Holliger’s lab at the MRC Laboratory of Molecular Biology, and a Post-doctoral Research Associate at St John’s College, Cambridge, adds: “The creation of synthetic DNA, and now enzymes, from building blocks that don’t exist in nature also raises the possibility that, if there is life on other planets, it may have sprung up from an entirely different set of molecules, and it widens the possible number of planets that might be able to host life.”

DNA and RNA are the building blocks of life, storing all of our genetic information and passing it on to future generations.

In 2012, Dr Holliger’s group showed that six alternative molecules, called XNAs, could also store genetic information and evolve through natural selection. They have now expanded on this principle to discover, for the first time, four different types of synthetic catalyst formed from these entirely unnatural building blocks.

The XNAzymes are capable of catalysing simple reactions like cutting and joining RNA strands in a test tube. One of the XNAzymes can even join XNA strands together, which represents one of the first steps to creating a living system.

Because their XNAzymes are much more stable than naturally occurring enzymes, the scientists believe they could be particularly useful in developing new therapies for a range of diseases, including cancers and viral infections, which exploit the body’s natural processes to take hold in the body.

Dr Holliger added: “Our XNAs are chemically extremely robust and, because they do not occur in nature, they are not recognised by the body’s natural degrading enzymes. This might make them an attractive candidate for long-lasting treatments that can disrupt disease-related RNAs.”

Professor Patrick Maxwell, Chair of the MRC’s Molecular and Cellular Medicine Board, said:

“Synthetic biology is delivering some truly amazing advances that promise to change the way we understand and treat disease. The UK excels in this field, and this latest advance offers the tantalising prospect of using designer biological parts as a starting point for an entirely new class of therapies and diagnostic tools that are more effective and have a longer shelf-life.”

Funders of this work included the MRC, European Science Foundationopens in new window and theBiotechnology and Biological Sciences Research Councilopens in new window.

courtesy: MRC

Chemical tag marks future microRNAs for processing, study shows

Scientists found the enzyme METTL3 (green) tags a particular sequence within RNA molecules destined to become gene-regulating microRNAs. While this happens within cells’ nuclei (blue), METTL3 is also found outside the nucleus in cells’ 

Just as two DNA strands naturally arrange themselves into a helix, DNA’s molecular cousin RNA can form hairpin-like loops. But unlike DNA, which has a single job, RNA can play many parts—including acting as a precursor for small molecules that block the activity of genes. These small RNA molecules must be trimmed from long hairpin-loop structures, raising a question: How do cells know which RNA loops need to be processed this way and which don’t?

New research at Rockefeller University, published March 18 in Nature, reveals how cells sort out the loops meant to encode small RNAs, known as microRNAs, by tagging them with a chemical group. Because microRNAs help control processes throughout the body, this discovery has wide-ranging implications for development, health and disease, including cancer, the entry point for this research.

“Work in our lab and elsewhere has shown changes in levels of microRNAs in a number of cancers. To better understand how and why this happens, we needed to first answer a more basic question and take a closer look at how cells normally identify and process microRNAs,” says study author Sohail Tavazoie, Leon Hess Associate Professor, Senior Attending Physician and head of the Elizabeth and Vincent Meyer Laboratory of Systems Cancer Biology. “Claudio Alarcón, a research associate in my lab, has discovered that cells can increase or decrease microRNAs by using a specific chemical tag.”

Long known as the intermediary between DNA and proteins, RNA has turned out to be a versatile molecule. Scientists have discovered a number of RNA molecules, including microRNAs that regulate gene expression. MicroRNAs are encoded into the genome as DNA, then transcribed into hairpin loop RNA molecules, known as primary microRNAs. These loops are then clipped to generate microRNA precursors.

To figure out how cells know which hairpin loops to start trimming, Alarcón set out to look for modifications cells might make to the RNA molecules that are destined to become microRNAs. Using bioinformatics software, he scanned for unusual patterns in the unprocessed RNA sequences. The sequence GGAC, code for the bases guanine-guanine-adenine-cytosine, stood out because it appeared with surprising frequency in the unprocessed primary microRNAs. GGAC, in turn, led the researchers to an enzyme known as METTL3, which tags the GGAC segments with a chemical marker, a methyl group, at a particular spot on the adenine.

“Once we arrived at METTL3, everything made sense. The methyl in adenosines (m6A tag) is the most common known RNA modification. METTL3 is known to contribute to stabilizing and processing messenger RNA, which is transcribed from DNA, but it is suspected of doing much more,” Alarcón says. “Now, we have evidence for a third role: the processing of primary microRNAs.”

In series of experiments, the researchers confirmed the importance of methyl tagging, finding high levels of it near all types of unprocessed microRNAs, suggesting it is a generic mark associated with these molecules. When they reduced expression of METTL3, unprocessed primary microRNAs accumulated, indicating that the enzyme’s tagging action was important to the process. And, working in cell culture and in biochemical systems, they found primary microRNAs were processed much more efficiently in the presence of the methyl tags than without them.

“Cells can remove these tags, as well as add them, so these experiments have identified a switch that can be used to ramp up or tamp down microRNA levels, and as a result, alter gene expression,” Tavazoie says. “Not only do we see abnormalities in microRNAs in cancer, levels of METTL3 can be altered as well, which suggests this pathway is could govern cancer progression.”

courtesy:: Rockefeller University

7 RECENT DISCOVERIES THAT COULD REVOLUTIONIZE MEDICINE

The past decade has seen remarkable progress in the field of medicine. Since scientists with the International Human Genome Project released a rough draft of the human genome to the public in 2000, the impact of science and technology on medicine has arguably been more salient than ever. New discoveries and inventions have opened up new possibilities in both the treatment and prevention of human sickness, so far that diseases that were once instant death sentences like cancer and HIV/AIDS, while still potentially fatal, a little less horrifying.

Sickness, of course, still exists, and so do the material burdens of medicine. Over the past thirty years, America’s health care system has seen the steady increase in consumer costs that have marginalized consumers and burdened states; the U.S. Census Bureau reported that a record 50.7 million residents (which includes 9.9 million non-citizens) or 16.7% of the population were uninsured in 2009. With each new discovery, the possibility of saving citizens million of dollars in treatment—or ensuring preventative measures against formerly rampant illnesses—become more apparent.

In recent years, a handful of recent discoveries have provided glimmers of hope for both effective and affordable health care. Here, a list of seven recent discoveries that could revolutionize medicine.

1) Disarming HIV

HIV/AIDS kills around 1.8 million people a year, and ranks as the third leading cause of death in low-income countries. But a recent study in journal Blood presents a potentially new way to combat the disease: instead of killing the virus, make the body resistant to it. When a person is infected, the body’s innate immune system provides an immediate but flawed defense; HIV takes its membrane or “skin” from the cell that it infects.

Researchers led by scientists at Imperial College London and Johns Hopkins University exposed HIV by removing cholesterol from this cellular wall, producing a large hole in the virus’s membrane and making it permeable, which in turn led to a stronger adaptive response, orchestrated by immune cells. While researchers have lengths to go before they can even think to announce a cure for HIV, this breakthrough could drastically reduce the amount of resources devoted to treating and combating the disease and provide insight into fighting similarly complex diseases in the future.

2) A Common Cause of ALS

Amyotrophic lateral sclerosis, often referred to as ALS or Lou Gherig’s disease, is a fatal neurodegenerative disease that paralyzes its victims. For years, the underlying disease process has long eluded scientists and prevented development of effective therapies. But a new Northwestern Medicine study for the first time has identified a common cause of all forms of ALS. The basis of the disorder is a broken down protein recycling system in the neurons of the spinal cord and the brain.

Optimal functioning of the neurons relies on efficient recycling of the protein building blocks in the cells. In ALS, that recycling system is broken. The cell can’t repair or maintain itself and becomes severely damaged. The discovery by Northwestern University Feinberg School of Medicine researchers, published in the journal Nature, could herald the end of one of the biggest medical mysteries of the 20th century.

3) Cellular “Leapfroging”

Recently, scientists developed a method of “leapfrogging” cells, or transmuting existing cells into a totally new form. Fully mature liver cells from laboratory mice have been transformed directly into functional neurons by researchers at the Stanford University School of Medicine. It is the first time that cells have been shown to “leapfrog” from one fundamentally different tissue type to another. These liver cells unambiguously cross tissue-type boundaries to become fully functional neural cells.

Such an advance could prove essential in generating essential cells for an ailing patient—or transmuting potentially dangerous or cancerous agents into benign cells.

4) Breakthroughs in Stem Cell Research

Probably no area of research has fired the public imagination and ignited the fires of public controversy as much as stem cell research. But the clinical advances—even when they have come from pilot studies—have been tantalizing. In 2009, European researchers genetically manipulated bone marrow cells taken from two 7-year-old boys and then transplanted the altered cells back into the boys and apparently arrested the progress of a fatal brain disease.

Now, scientists can make embryonic-like stem cells directly from skin cells, which makes it possible to model a multitude of human diseases. New drugs based on stem cells are being developed, and the first human clinical trial based on products of human embryonic stem cells is expected in 2011. With the cheap and efficient means of manipulating stem cells within reach (regardless of the legal barriers), new options are opening up for researchers looking to generate new tissue in a lab setting, which could radically change the way America’s organ donor system functions.

5) Harnessing Information Technology

One of the unseen burdens of modern health care is the sheer wealth of data. Charts, blood cultures, past history—all of this information is increasingly essential in diagnosing and preventing deadly diseases, and modern medical institutions are struggling to find ways to manage and efficiently utilize available data. Doctors say the internet and new information technology—and yes, even the iPad—has actually changed the way they practice medicine for the better.

Gone are the days wasted in a medical library, looking for topics, writing down the references, going to the stacks and pulling the volumes of journals. Now, medical records, case files, and volumes upon volumes of crucial medical information and references are available at the swipe of a finger. Not only is this essential in solving complex medical problems, but also in terms of making patients safer by cataloging blood types, recoding the administration of vaccines, tracking medical histories, and more.

6) Synthetic Cells

While cellular “leapfrogging” and stem cell manipulation are remarkable advances, Dr. J. Craig Venter, co-mapper of the human genome, took the process one step forward by creating life in the lab and developing totally new synthetic cells in 2010. Generated from a painstaking process of stitching together the chemicals that compose DNA, Venter synthesized the entire genome of a bacterium, which was inserted into a cell and was able to replicate.

Venter hopes his findings will be the first of a long line of lab-made creatures in synthetic biology. Synthetic cells aren’t a purely medical miracle: by mixing and matching genetic material into viable combinations, Venter is already generating organisms that may serve as new types of biofuel. But health-related applications are apparent.

Scientists could speed up flu vaccine production keeping artificial versions of different viral strains of influenza, for example, or generate brand new strains of diseases to experiment on if the original host is inaccessible or spoiled. For researchers, the experimental possibilities are endless.

7) Robot Surgeries

In late 2007 the surgeons at the Cleveland Clinic began removing kidneys through a single incision in the patient’s navel. Using tiny metal hands carefully manipulating sutures deep inside a patients body seems like something pulled from science fiction, but that robotic surgery is occurring daily in a growing number of centers across the country.

The greatest benefit of tiny openings into the body rather than large incisions made by traditional surgery, may—believers say—be shorter and less painful recovery time. Doctors have also used robotic surgery to improve the accuracy of procedures, especially in cancer cases. Robotic surgery increased the ability of cancer surgeons to get clean margins as well due to the magnification of the structures.

Robotic tools also offer the potential for surgeons to operate on patients remotely, which would reduce the costs of travel and other barriers towards receiving specialized care. While critics say the cost of the robotic hardware may outweigh the benefit, the potential for smoother, more efficient, and less invasive surgeries bodes well both for patient safety and overall medical costs.

Source: Interfysio, a healthcare staffing agency that specializes in helping individuals find occupational therapist jobs in the New York City area.

Cell Transplant Enables Paralysed Man To Walk

Paralysed from the chest down after a brutal knife attack in 2010, Darek Fidyka was left with an 8mm gap in his spinal colum. With the help from scientists in London, surgeons in Poland have given Fidyka the opportunity to walk again, thanks to a joint effort into a new procedure using cell transplants from his olfactory bulbs.

Darek’s injuries were so severe that no level of therapy could give him feeling back into his legs. After two years of extensive research and treatment, Fidyka finally recovered some feeling in his legs, feet, bowels, bladder and can now walk, albeit with assistance.

The scientists behind this treatment first extracted one of Fidyka’s olfactory bulbs, before proceeding to grow external olfactory ensheathing cells and attach them onto his damaged spine. This process allowed nerve fibers to be linked back together and feeling to gradually come back.

The OEC’s act as intermediary cells which repair and renew damaged nerve fibers. 100 micro injections were made around the affected area, and four thin layers of nerve tissue from Fidyka’s ankle were attached to the damaged region. Three months passed before the medical experts began to notice muscle mass developing on his left thigh. Another three months elapsed after which Fidyka was able to stand and take his first minor, yet groundbreaking, steps. Fidyka is currently undergoing 5 hours of physiotherapy, 5 days every week

“It is immensely gratifying to see that years of research have now led to the development of a safe technique for transplanting cells into the spinal cord.” said Professor Geoff Raisman, Chairman of Neural Regeneration at UCL Institute of Neurology. “I believe we stand on the threshold of a historic advance and that the continuation of our work will be of major benefit to mankind. I believe we have now opened the door to a treatment of spinal cord injury that will get patients out of wheel chairs. Our goal now is to develop this first procedure to a point where it can be rolled out as a worldwide general approach.”

BBC Panorama asked what it felt like to be given this opportunity to walk again, Fidyka said, “when you can’t feel almost half your body, you are helpless, but when it starts coming back it’s as if you were born again.”

The treatment is the first successful case of cell transplant and paralysis reversal, and this exciting result will hopefully ripple through the world and bring feeling back to many who thought they would never experience it ever again.

Details of the research can be found in the journal Cell Transplantation