Archive for February, 2009

Autism Bill: Government Must Take Urgent Action, UK

The UK Autism Foundation has urged the government to take decisive action on autism. An Autism Bill was debated in the House of Commons in Westminster on Friday 27th February, it now moves on to the next stage, it cleared the first hurdle by 131 votes to 25. Cheryl Gillan MP’s bill called for an end to the postcode lottery to public services. The UKAF supported the bill along with 15 UK charities.

Ivan Corea of the UK Autism Foundation wrote to Ministers Phil Hope and Sarah McCarthy Fry, urging the government to provide new funding streams for education, health,specialist speech therapy and respite care. Lee Scott MP who has campaigned tirelessly for autism in the House of Commons had earlier called for ring fenced funding for autism and Asperger’s Syndrome.

Lee Scott MP, Angela Browning MP and Cheryl Gillan MP have all brought in Autism Bills in the House of Commons. Autism campaigners are calling for urgent action and support for parents, carers, children and adults with autism and Asperger’s Syndrome.

Ivan Corea said: ‘It is heart breaking to see banks being bailed out to the tune of billions of pounds and taxpayers money going towards the bonus schemes and pensions of bankers and yet parents and carers have to fight and stuggle for a few hours of repite care or speech therapy. The deepening recession is bringing even more suffering and parents, carers and the Autism Community need urgent help. We call on the Prime Minister and the Chancellor to provide new funding and end the postcode lottery to public services – once and for all.’

UK Autism Foundation

Woodford Business Centre

113-115 George Lane

South Woodford

London E18 1AB

United Kingdom



February 28, 2009 at 12:00 pm Leave a comment

Physicians Hail Arkansas Court Victory Against Baptist Health – Patient-physician Relationship Entitled To “exceptional Protections”

LITTLE ROCK, Ark., USA – In a legal victory that preserves the patient-physician relationship and promotes competition, an Arkansas state court ruled today that Baptist Health, Arkansas’ largest hospital system, acted improperly by inappropriately restricting hospital admitting privileges and interfering with the continuity of patient care.

The ruling in Baptist v. Murphy permanently prohibits an economic credentialing policy adopted by Baptist Health in 2003, which would have allowed the hospital system to interfere in the patient-physician relationship by denying hospital-admitting privileges to medical staff members based on financial concerns.

As the court observed, “The heart of this case is the patient-physician relationship. The relationship is entitled to exceptional protection.” The court went on to say, “Strong patient-physician relationships are the underpinning of good medicine, and it was uncontroverted at trial that patients who have long term relationships with their doctors have better outcomes.”

The American Medical Association (AMA) and the Arkansas Medical Society (AMS) successfully challenged the unfair hospital policy by arguing that the primary factor in credentialing physicians should be competency, not economic factors unrelated to quality.

“Hospital admitting privileges have long been considered an indispensable component of a medical practice,” said Rebecca Patchin, M.D., chair-elect of the AMA Board. “Baptist Health took advantage of this fact to coerce physicians and squash competition from other medical facilities.”

“Patients benefit when their physicians have staff privileges at multiple facilities, because the patient has a choice of facilities to select from that best suits their needs in terms of costs, quality and convenience,” said AMS President David Jacks, M.D.

“This important court victory demonstrates that economic policies that restrict physician credentialing are really intended to prevent patients from choosing medical facilities that might compete with large hospitals,” said Dr. Patchin. “Hospitals cannot use their financial interest to justify policies that interfere with patients’ health care choices.”

“Hospitals must address the economic realities of the health care environment through innovation and fair competition, rather than relying on unfair policies that restrict patient choice and impede the continuity of care,” said Dr. Jacks.

The combined resources of organized medicine were brought to bear on this case through the Litigation Center of the AMA and State Medical Societies, which provided substantial financial support and, along with the Arkansas Medical Society, worked in support of the physicians who were subjected to Baptists’ inappropriate credentialing policies.

“This case shows yet again that when doctors enlist the help of organized medicine, the best outcome for patients and doctors can be achieved,” said Dr. Patchin.

A copy of the court’s decision is available here.

American Medical Association

515 North State St.

Chicago, IL 60610

United States


February 28, 2009 at 12:00 pm Leave a comment

Community Pharmacy Fairness Act Of 2009 Introduced In House, USA

In an effort to permit community pharmacies to negotiate fairer contracts that benefit their patients, Reps. Anthony Weiner (D-NY) and Jerry Moran (R-KS) have introduced H.R. 1204, the Community Pharmacy Fairness Act of 2009. They are joined by 32 other bipartisan original sponsors. The bill helps level the playing field between more than 23,000 community pharmacies and the multi-billion dollar pharmacy benefit managers (PBMs) that administer the prescription drug plans by creating a narrow exemption to current antitrust law.

“Current law prevents community pharmacists from having the same leverage as large chains in negotiating the terms of their contracts with PBMs,” said NCPA Executive Vice President and CEO, Bruce T. Roberts, RPh. “As a result community pharmacies are given the Hobson’s Choice of signing unfair contracts that don’t benefit patients, or lose their patients altogether. That is why we applaud Congressmen Anthony Weiner and Jerry Moran for introducing the Community Pharmacy Fairness Act of 2009, and we urge the House Judiciary Committee to take action on the bill and hope the Senate will also introduce a companion bill soon.”

Currently, independent community pharmacies are offered take-it-or-leave-it contracts by the PBMs. Giant PBMs have voiced concern over allowing pharmacies to negotiate for fear of losing the PBMs’ monopoly over these small businesses that allows them to dictate terms and create windfall profits for their shareholders. If pharmacies were allowed to enter into negotiations, they could have a chance of enacting terms in contracts that could:

— Protect patients from shrinking and shifting formularies that confuse and restrict a patient’s treatment options (formularies are the lists of drugs that are covered for specific groups in a health insurance plan)

— Reduce the pre-authorization hassles to obtain refills or formulary-restricted medications that generate red tape and create hurdles for patients trying to obtain their medications

— Limit the switching of patients to higher-cost medications that may not be better for them therapeutically, but that earn higher brand-name drug rebates for the PBM

The bill also reflects the changes that were made when the previous version this bill was voted out of the House Judiciary Committee last year:

— Limit pharmacy negotiating pools to 25 percent of market share in a Medicare Part D region

— Definition of independent pharmacy is less than 10 percent of market share of a PDP region and less than 1 percent of market share of the United States

— 5-year sunset clause from the bill’s passage

— Government Accountability Office study six months before sunset to examine the impact

“Community pharmacists deliver many valuable services, but our number one priority is being patient advocates,” said NCPA President and Seattle, Washington pharmacy owner Holly Henry, RPh. “Unfortunately PBMs undermine that priority by subjecting community pharmacy owners to onerous and inflexible contract terms, along with low reimbursement rates. H.R. 1204 gives us the ability to cater to our patents’ needs by restoring a business model that puts each of the respective parties on some semblance of equal footing when negotiating contracts.”

The other original sponsors are Representatives Robert Aderholt (R-AL), Tammy Baldwin (D-WI), Roscoe Bartlett (R-MD), Marion Berry (D-AR), Sanford Bishop (D-GA), Tim Bishop (D-NY), Charles Boustany (R-LA), Yvette Clarke (D-NY), Howard Coble (R-NC), Joe Courtney (D-CT), Elijah Cummings (D-MD), Steve Driehaus (D-OH), Sam Farr (D-CA), Ralph Hall (R-TX), Maurice Hinchey (D-NY), Ruben Hinjosa (D-TX), Tim Holden (D-PA), Walter Jones (R-NC), David Loebsack (D-IA), John McHugh (R-NY), Dennis Moore (D-KS), Patrick Murphy (D-PA), Jerrold Nadler (D-NY), Ron Paul (R-TX), Todd Platts (R-PA), Phil Roe (R-TN), Linda Sanchez (D-CA), Gene Taylor (D-MS), Lee Terry (R-NE), Peter Welch (D-VT)), and Charles Wilson (D-OH). It is also noteworthy that House Judiciary Committee Chair John Conyers (D-MI) is an original sponsor.

The National Community Pharmacists Association, founded in 1898, represents the nation’s community pharmacists, including the owners of more than 23,000 pharmacies. The nation’s independent pharmacies, independent pharmacy franchises, and independent chains dispense nearly half of the nation’s retail prescription medicines. To learn more go to


February 28, 2009 at 12:00 pm Leave a comment

Don’t Confuse FEN Death And Investigation With Aid In Dying

The media has recently reported the arrest of individuals associated with a group known as Final Exit Network (FEN) on charges of assisting a suicide in Arizona, and attempting to engage in similar activity in Georgia. The cases reported in the media this week involving FEN ought not be confused with the choice of aid in dying.

Media accounts of the facts suggest that the Arizona decedent was not terminally ill and may have suffered from impaired judgment and/or mental illness.

It is important to recognize the difference between the choice of a mentally competent, terminally ill patient for a peaceful death via self-administering medications prescribed for this purpose, and the act of a distraught individual who is not dying, who may be suffering from impaired judgment or mental illness, to precipitate death. The former is a practice known as aid in dying, which has strong and growing support among the public and among medical and health policy professionals. The latter is suicide. It is essential to recognize the difference between these.

In 2008, four major national medical professional and health policy organizations adopted policy in support of aid in dying, the practice of a physician providing a prescription to a mentally competent, terminally ill patient that brings about a peaceful death. This represents a significant turning point in American society’s evolution to empower terminally ill patients with information and choices about how they will die.

The organizations adopting policy in support of aid in dying include the American Medical Women’s Association (AMWA), the American Medical Students’ Association (AMSA), the American College of Legal Medicine (ACLM), and the American Public Health Association (APHA).

The Oregon Death with Dignity Act (Dignity Act) began implementation in 1998. This law permits mentally competent individuals who have less than six months to live to obtain a prescription for medication that can be self-administered to bring about a peaceful death. It has been implemented without interruption since 1998.

Under the Dignity Act, patients must follow a strict set of procedures to establish eligibility. A physician must determine that the patient has a life expectancy of less than six months; this diagnosis must be confirmed by a second opinion. The patient must make multiple requests, waiting at least fifteen days between the first and last request, must establish capacity to make medical decisions, and must be informed of palliative care options such as hospice, if not already receiving such services. If all of these procedures are followed, and the patient is deemed eligible by the physician to obtain the life-ending medication, an Oregon physician can provide the requested prescription.
During the decade that aid in dying has been legal in Oregon, close to 30 terminally ill individuals each year have gone through the process, obtained and taken the medication, and died peacefully. Those present at these deaths, usually close family members, report that the patient was enormously relieved to be able to make this choice. On a date chosen by the patient, loved ones may gather around for a final goodbye.

The patient consumes the medication, becomes drowsy, falls deeply asleep, and after a short period of time ceases to breathe. The long road from diagnosis to curative treatment to palliative care to death has ended on terms acceptable to the patient. More patients obtain the medication than go on to use it: some fraction each year receive the medication, put it in the medicine cabinet, feel comforted to know it is there, and never take it.

Demographic data about the patients who choose to use the Dignity Act show that most are dying of cancer. The next most common terminal illness is amyotrophic lateral sclerosis (ALS). Those using the law are insured, well educated, and are receiving comprehensive pain and symptom management, typically through hospice services. Opponents of the Dignity Act legislation had argued that such a law would be forced upon the uninsured, the poor, minorities, persons without access to hospice, or disabled persons. The data have disproved this conjecture.

In addition, a number of unexpected but significant developments occurred in Oregon following implementation of the Dignity Act. Referral of patients to hospice care increased dramatically, as did physician enrollment in continuing education courses on how to treat pain and symptoms associated with terminal illness. It is likely that physicians want to ensure that no patient makes use of the Dignity Act due to inadequate pain and symptom management. This galvanized both the increase in hospice referrals and physician efforts to learn more about treating pain and symptoms.

Voters in the state of Washington considered the issue in 2008 and adopted the Washington Death with Dignity Act by the significant margin of 59% to 41%. The Washington measure is virtually identical to Oregon’s and will begin implementation on March 5, 2009.

As a result of a court case, Montana recently recognized that the freedom of its terminally ill citizens to choose aid in dying is a fundamental right protected by its state constitution’s guarantees of privacy and dignity.

Public support for empowering dying patients with the freedom to choose aid in dying is strong. A Harris poll in 2005 found that 70% of U.S. adults favor a law that would “allow doctors to comply with the wishes of a dying patient in severe distress who asks to have his or her life ended.”

When a patient does not feel able to discuss the desire for aid in dying with his or her physician, or cannot find a physician willing to provide it, the patient may seek assistance in hastening death from a family member or loved one. Unfortunately, these incidents often involve a violent means to death, such as gunshot.

A fraction of terminally ill patients – including those who have excellent pain and symptom management – confront a dying process so prolonged and marked by such extreme suffering and deterioration that they decide aid in dying is preferable to the alternatives. Having this option harms no one, and greatly benefits both the relatively few patients in extremis who make use of it and many more who draw comfort from knowing it is available should their dying process become intolerable. The trend in policy among mainstream medical and health policy associations is clearly in favor of supporting this compassionate option.

For more information please visit


February 28, 2009 at 12:00 pm Leave a comment

Discovery Of Immune Molecule That Attacks Wide Range Of Flu Viruses

The discovery of the molecule, an antibody known as CR6261, is good news for researchers who hope to design a flu vaccine that would give humans lifelong protection against a majority of influenza viruses. The antibody also has the potential to treat those who are unvaccinated and become infected with the flu.

The team’s findings were published in the February 26, 2009, issue of Science Express, an advance, online publication of selected research papers from the prestigious journal Science.

“This is very exciting because it marks the first step toward the Holy Grail of influenza vaccinology – the development of a durable and cross-protective universal influenza virus vaccine,” says the study’s senior investigator, Ian Wilson, D.Phil., a professor in the Department of Molecular Biology and a member of The Skaggs Institute for Chemical Biology at Scripps Research. “Such a flu vaccine could be given to a person just once and act as a universal protectant for most subtypes of influenza, even against pandemic viruses.”

Flu vaccines now offer protection only for the specific strains of influenza that public health officials believe to be currently circulating in the population. This involves a lot of guesswork about which strains will be most prevalent and, because the virus is constantly mutating, this guesswork must be repeated year after year.

According to the U.S. Centers for Disease Control, in the United States more than 200,000 people are typically hospitalized from flu complications every year, and about 36,000 people die from the illness. But that is in a normal year. Over the past century, three major human influenza pandemics (the Spanish Flu of 1918-1919, the Asian Flu of 1957-1958, and the Hong Kong Flu of 1968-1969) have devastated the human population, killing around 50-100 million people worldwide.

Broad Action

In the new research paper, the scientists, composed of a team from Scripps Research and the biopharmaceutical company Crucell, in the Netherlands, show that the CR6261 antibody attaches to the virus that caused the devastating 1918 “Spanish flu” and to a virus of the “H5” class of avian influenza that jumped from chickens to a human in Vietnam in 2004 The scientists at Crucell previously demonstrated in laboratory experiments that this antibody can neutralize common, seasonal flu viruses.

“We can see exactly how and where the antibody grabs on to these influenza viruses,” says the study’s first author, Damian Ekiert, a graduate student in the Scripps Research Kellogg School of Science and Technology working in the Wilson laboratory. “And we can see that this same mode of interaction occurs in viruses that are very different from each other.”

Wilson says the discovery was possible because of the modern tools that the research team employed, such as phage display to isolate antibodies from human blood, and a state-of-the-art robotic crystallization laboratory that helps solve the structures of microbial antigens much more quickly than in the past.

“I have been working with influenza virus antigens since 1987, and I find it just amazing to suddenly see antibodies now appear that we had no idea existed,” Wilson says.

Researchers at Scripps Research and collaborating institutions have long been looking for influenza antibodies with a broader spectrum of action. To find these antibodies, the researchers extracted white blood cells from a healthy immunized volunteer to make a library of antibodies to look for antibodies that interact with viruses that the donors could not have come into contact with before, such as H5 avian influenza that has spread only from chickens to humans, but not from humans to humans.

The researchers found one such antibody in the blood of a donor who had recently been vaccinated with a flu shot to protect against H1 influenza virus, one of the seasonal subtypes that most commonly circulates in humans. That antibody was isolated and named CR6261 – although some of the researchers later dubbed it “Supermantibody” when they began to realize how effective it was.

CR6261-like antibodies have now also been found in other people. According to Ekiert, it is likely that many people, if not all, have these antibodies, but the body doesn’t always produce or use them efficiently.

Solving the Puzzle

The next step for the researchers was to understand exactly how CR6261 recognized and responded to such a broad array of influenza viruses.

To do that, Ekiert led the successful effort to solve two crystal structures: one with the antibody bound to the hemagglutinin H1 virus that caused the 1918 pandemic and another with the antibody glued to the hemagglutinin from the 2004 Vietnam H5 avian influenza.

Influenza antibodies, including those induced by current vaccines, target mushroom-shaped proteins known as hemagglutinin (HA) that stud the outer coat of a virus particle to help the virus infect cells of a host organism, such as humans.

What the Scripps Research scientists found is that CR6261 latches on to the “stalk” of the mushroom-like hemagglutinin particle, near where the protein juts out from the viral coat, and that this binding area, known as an epitope, is the same in both the H1 and H5 viruses. The scientists then analyzed the genome of more than 5,000 different influenza viruses and found the epitope’s sequence is nearly identical in all of them, suggesting that this part of the virus is much more highly conserved than the virus’s constantly mutating cap.

This insight into the way the CR6261 antibody binds to the virus’s structure makes sense, the researchers say. It helps explains why the antibody may not be as powerful as it needs to be to attack influenza. “The epitope it needs to latch on to is at the base of the stalk of the hemagglutinin protein, so it is difficult to get to because these proteins are packed together tightly on the viral coat,” Ekiert says.

“Plus, most antibodies try to attack the mushroom cap of the hemagglutinin proteins because that is much more accessible, and so this probably sets up a huge competition between antibodies.”

“Certain regions of the hemagglutinin protein are like big red flags to the immune system, but they are functionally unimportant,” Wilson says. “The task now is to figure out how to suppress reactivity with those regions and enhance the immune system’s attack on this conserved epitope.”

It may also be possible that some people who rarely if ever contract the flu may have CR6261-like antibodies that are more efficient than others in neutralizing influenza viruses.

So far, the researchers have shown the CR6261 antibody works against many of the 16 different subtypes of influenza viruses. The antibody neutralized every H1 virus that the group tested, including those that have caused pandemics over the past 100 years. The antibody also worked on the H5 bird viruses that are not yet circulating in humans. However, the CR6261 antibody is not effective for the H3 subclass, which is a common human influenza virus, because a sugar molecule blocks the epitope.

“If a sugar is the only impediment in the way, we think there is a way around that in vaccine design,” Wilson says. “Even so, this antibody could still potentially hit 12 out of the 16 influenza viral subtypes. We now have a blueprint upon which to design the next generation of anti-virals, and that is why we are so enthusiastic about these findings as they give hope that it may indeed be possible to generate a universal vaccine against influenza virus, as well as provide immediate protection when used as an antibody therapeutic.”

In addition to Wilson and Ekiert, authors of the paper “Antibody recognition of a highly conserved epitope across influenza viruses” are Gira Bhabha and Marc-André Elsliger of Scripps Research, and Robert Friesen, Mandy Jongeneelen, Mark Throsby, and Jaap Goudsmit of Crucell Holland BV, Leiden, The Netherlands.

The work was funded by a grant from the National Institutes of Health, a predoctoral fellowship from the ARCS Foundation and the Skaggs Institute. Facilities supporting this work were funded by the NIH National Institute of General Medical Sciences, the National Cancer Institute, and the U.S. Department of Energy.

About The Scripps Research Institute

The Scripps Research Institute is one of the world’s largest independent, non-profit biomedical research organizations, at the forefront of basic biomedical science that seeks to comprehend the most fundamental processes of life. Scripps Research is internationally recognized for its discoveries in immunology, molecular and cellular biology, chemistry, neurosciences, autoimmune, cardiovascular, and infectious diseases, and synthetic vaccine development. Established in its current configuration in 1961, it employs approximately 3,000 scientists, postdoctoral fellows, scientific and other technicians, doctoral degree graduate students, and administrative and technical support personnel. Scripps Research is headquartered in La Jolla, California. It also includes Scripps Florida, whose researchers focus on basic biomedical science, drug discovery, and technology development. Scripps Florida is currently in the process of moving from temporary facilities to its permanent campus in Jupiter, Florida. Dedication ceremonies for the new campus will be held February 26 – 28, 2009.

Source: Mika Ono

Scripps Research Institute


February 28, 2009 at 8:00 am Leave a comment

Two-Drug Combination Found To Be Effective Against Drug-Resistant TB Bacteria

WHAT: In a finding that could soon help people infected with untreatable, highly drug-resistant tuberculosis (TB), scientists have shown that two FDA-approved drugs work in tandem to kill laboratory-grown strains of Mycobacterium tuberculosis (Mtb), the bacterium that causes TB. The drugs–meropenem and clavulanate–are already used to treat other bacterial diseases, but their effectiveness against TB bacteria had not been studied systematically until now.

The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, is planning a clinical trial to test the combination in people who have extensively drug-resistant TB (XDR TB). XDR TB is a rare but dangerous form of multidrug-resistant TB that is causing concern among public health officials. In 2006, of an estimated 490,000 cases of multidrug resistant tuberculosis that occurred worldwide, approximately 40,000 were XDR TB. These numbers are widely considered to be conservative estimates. Death rates associated with XDR TB are high in most settings.

NIAID scientist Clifton E. Barry, III, Ph.D., collaborated with NIAID grantee John S. Blanchard, Ph.D., of Albert Einstein College of Medicine in the new research. The scientists conducted a detailed investigation of the activity of the Mtb enzyme β-lactamase. This enzyme shields TB bacteria from a class of antibiotics called β-lactams. Penicillin is a β-lactam, as is meropenem, the antibiotic used in this study. The drug clavulanate is a β-lactamase inhibitor.

In a series of laboratory experiments, the researchers determined the balance of clavulanate and meropenem needed to inhibit the growth of Mtb strains. In addition to killing drug-susceptible strains of Mtb, the combination also worked on strains of XDR TB. Dr. Barry is now working with colleagues at South Korea’s National Masan Tuberculosis Hospital and with the manufacturers of meropenem and clavulanate to launch a clinical trial of the drug combination in individuals who have multidrug-resistant or XDR TB.

ARTICLE: J-E Hugonnet et al. Meropenem-clavulanate is effective against extensively drug-resistant
Mycobacterium tuberculosis. Science DOI: 10.1126/Science.1167498 (2009).

WHO: NIAID Director Anthony S. Fauci, M.D., and Clifton E. Barry, Ph.D., chief, tuberculosis research section, Laboratory of Clinical Infectious Diseases, NIAID.

NIAID conducts and supports research–at NIH, throughout the United States, and worldwide–to study the causes of infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID Web site at

The National Institutes of Health (NIH)–The Nation’s Medical Research Agency–includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit

News releases, fact sheets and other NIAID-related materials are available on the NIAID Web site at

Source: Anne A. Oplinger

NIH/National Institute of Allergy and Infectious Diseases


February 28, 2009 at 8:00 am Leave a comment

Rapid Research Progress Signified By Discovery Of A Second MND Gene Mutation In One Year

A collaborative research project involving Professor Christopher Shaw of the Institute of Psychiatry, King’s College London (KCL), Dr Tom Kwiatkowski at Massachusetts General Hospital (MGH) and Professor Robert H Brown at University of Massachusetts, has revealed that mutations in a gene called FUS (fused in sarcoma) cause familial Motor Neuron Disease (also known as Amyotrophic Lateral Sclerosis). This is the second gene to be discovered for ALS in just one year and is an important step towards understanding disease mechanisms. The research was published on line in two back-to-back papers in the US Journal Science.

Professor Christopher Shaw, senior author of the KCL paper, explained: “The new gene, called FUS, is a very important clue as to what causes motor neurons to degenerate. It links in with TDP-43, which is deposited in motor neurons in 90% of all people with MND.

“The genetic pieces of the jigsaw puzzle are beginning to fit together leading us in new and exciting directions of research. There are also major implications for diagnosis and treatment.

“We are very excited about this latest discovery and the collaboration between the Boston and London research groups has been crucial in this breakthrough. It is only by understanding the fundamental disease mechanisms that we will find a cure.”

This latest discovery will not only help doctors to counsel those families at risk of MND but crucially aid researchers to develop better models of disease. The gene FUS is shown to be related to the TDP-43 gene found by Professor Shaw’s team last year. Thanks to this development scientists now have two more genes with which to map out the origins of this dreadful disease and develop drugs to combat it.

Research Progress

For nearly a decade, researchers at KCL and MGH have been hunting a gene that they knew must lie on the 16th chromosome. Following up on a lead from Kwiatkowski and Brown at MGH, Shaw’s team identified a FUS mutation in their chromosome 16 linked family and subsequently found that 4% of all families had FUS mutations. These were only detected in those with the inherited form of MND, which accounts for 10% of all cases.

This is the fourth MND-causing gene to be identified after 20 years of genetic research. The first gene, called SOD1, was discovered in 1993, the second ANG is a growth factor for nerve cells discovered in 2006. The new protein FUS has a very similar role to the third gene TDP-43, mutations in which were first described by Professor Shaw’s group in 2008.

This latest discovery has been made possible by the longstanding collaboration between researchers and co-funding by research organisations, including the ALS Association in the US and the MND Association in the UK.

Commenting on this latest discovery, Dr Belinda Cupid, Research Manager at the MND Association said: “This is the second MND-causing gene to be identified in less than 12 months, a reflection of the accelerating pace of research around the world.

“Not only will it open up an entirely new avenue of scientific investigation, it will also allow researchers to compare the different known causes of MND and start to home in on the main biochemical events that cause motor neurones to die. This understanding will lead to new approaches to defeat this cruel disease.”

The FUS Gene

The FUS protein, made by the FUS gene, normally carries out multiple functions within motor neurones. These include regulating how gene messages are created, modified, and transported in order to make proteins which are the building blocks of all cells.

The mutations were identified by detailed gene sequencing in families with an inherited form of the disease linked to Chromosone 16. Usually the FUS protein works in the cell’s nucleus, but the mutation causes the protein to be abnormally located in the cell, outside the nucleus and it forms large aggregates within motor neurons in people carrying the mutations. More work is now needed to determine how the FUS and TDP-43 cause MND.

The condition

MND is the name given to a group of related diseases affecting people in different ways. ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord and is the most common form of MND. There is currently no cure for this condition and around 5,000 people in the UK at any one time are affected. Life expectancy for most people with MND is two to five years, and around half will die within 14 months of diagnosis. Up to 10% of cases of MND are the inherited and known as familial MND.


The paper Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 is published on line in the journal Science. Authors were Caroline Vance, Boris Rogelj, Tibor Hortobágy, Kurt J. De Vos, Agnes Lumi Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul Wright, Jeban Ganesalingam, Kelly L. Williams, Vineeta Tripathi, Safa Al-Saraj, Ammar Al-Chalabi, P. Nigel Leigh, Ian P. Blair, Garth Nicholson, Jackie de Belleroche, Jean-Marc Gallo, Christopher C. Miller,1 Christopher E. Shaw.

King’s College London

King’s College London is one of the top 25 universities in the world (Times Higher Education 2008) and the fourth oldest in England. A research-led university based in the heart of London, King’s has 19,700 students from more than 150 countries, and 5,400 employees. An investment of over £500 million has been made in the redevelopment of its estate in recent years

King’s has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top group of UK universities for research earnings and has an overall annual income of approximately £450 million.

King’s has a particularly distinguished reputation in the humanities, law, the sciences (including a wide range of health areas such as psychiatry, medicine and dentistry) and social sciences including international affairs. It has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA and research that led to the development of radio, television, mobile phones and radar. It is the largest centre for the education of healthcare professionals in Europe; no university has more Medical Research Council Centres.

King’s College London and Guy’s and St Thomas’, King’s College Hospital and South London and Maudsley NHS Foundation Trusts are working together to create King’s Health Partners – a world-leading Academic Health Sciences Centre (AHSC). King’s Health Partners brings together an unrivalled range and depth of clinical and research expertise, spanning both physical and mental health. Our combined strengths will drive improvements in care for patients, allowing them to benefit from breakthroughs in medical science and receive leading edge treatment at the earliest possible opportunity. For more information, visit

Source: Camilla Palmer, Public Relations Manager

King’s College London


February 28, 2009 at 8:00 am Leave a comment

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