News 18 mei 2009
Autism in the UK costs more than
$41 billion every year, shows new research
Research published this week in the Journal Autism, published by SAGE, estimate the annual
costs of autism spectrum disorder (ASD) to be more than £27 billion a year. The costs of
supporting children with ASDs were estimated to be £2.7 billion per year, £25 billion
each year for adults. The findings will be presented at the Autism & Employment
Workshop taking place today at Goldsmiths, University of London. With the National Audit
Office report on the provision of services for Autism imminent, participants at the
workshop will review current research, policy and services and discuss the challenges
facing people with ASDs finding work and in the workplace. The Economic impacts of autism
research, led by Professor Martin Knapp of the London School of Economics, provides the
most comprehensive analysis of the economic impacts of ASD in the UK to date. Speaking at
the Goldsmiths event, Knapp will reveal the significant costs to the public sector, in
particular the health system, social care agencies, education and housing budgets. He will
also outline the steep rise in costs for adults, calling for increased early intervention
for those with ASDs. Costs were based on estimates for 539,766 people with ASD in the UK:
432,750 adults (aged 18 and over) and 107,016 children and adolescents (aged 0-17). There
was no single, nationally representative data source in the UK looking at these costs, so
the researchers combined existing data estimating prevalence; intellectual disability;
place of residence; service use; lost productivity; and costs per individual. Average
annual costs were also aggregated to estimate the lifetime cost of someone with ASD,
calculated by combining costs for different age groups with life expectancy estimates.
The costs of supporting children with ASDs were estimated to be £2.7 billion per
year. For adults, these costs rise to £25 billion each year. Lifetime costs for someone
with autism were calculated as £0.8 million for someone with autism without intellectual
disability, and £1.2 million for someone with autism who was also intellectually disabled
(50 percent higher). Significant costs were attributed to public services. For children,
the highest costs were for special education, health and social care and respite care. 95
percent of the total national cost for children was accounted for by services funded by
the state, and 5 percent by family expenses. For adults, the largest cost elements were
staffed/supported accommodation, lost productivity because the individual with ASD was not
employed, and hospital services. For non-intellectually disabled adults, the largest
elements were lost productivity for the individual, hospital costs, and lost productivity
for parents. 59 percent of the total was attributable to publicly funded services, 36
percent to lost employment for the individual with ASD, and the remaining 5 percent to
family expenses. The researchers suggest that the high costs associated with supporting
adults with ASD warrant attention, supporting calls for wider provisions of early
interventions with children and young people with ASD, which have been shown to alter
patterns of behaviour. They also call on the government to review policy frameworks for
supporting those with ASDs, in particular reviewing support for independent living and for
increasing productivity. The researchers however caution that the effectiveness and
cost-effectiveness of intervention must be evaluated further. They add, "given the
autistic spectrum includes a number of disorders and a wide range of needs, symptoms and
characteristics, it is likely that a wide range of behavioural, educational and medical
interventions could be required in order to meet some or all individual needs."
They conclude, "the costs presented in this paper certainly do not provide an
economic case for early intervention, but they do emphasise the importance of addressing
just that question. If early intervention could successfully change some aspects of
behaviour that are cost-raising, both in childhood and subsequently, it may allow cost
savings to be made and quality of life improvements to be achieved."
Babies born to native high-altitude
mothers have decreased risk of low birth weight
Pregnant women who are indigenous to the
Andes Mountains deliver more blood and oxygen to their fetuses at high altitude than do
women of European descent. The study helps explain why babies of Andean descent born at
high altitude weigh more than European babies born at altitude. The research, published in
The American Journal of Physiology-Regulatory, Integrative and Comparative Physiology
found that at high altitude - the uterine artery of Andean women delivered more blood and
oxygen to the fetus compared to women of European descent, the babies of Andean women
weighed an average of nine ounces more at birth, the greater the mother’s Andean
heritage, the greater the uterine artery blood flow, the greater the oxygen delivery to
the fetus and the greater the baby’s birth weight These differences between the
Andean and European women and their babies did not exist at low altitude. The question of
why babies born at high altitude are smaller is not an academic one. Low birthweight is
associated with higher rates of illness and mortality. By understanding this physiology,
researchers hope to find out how to protect from reductions in fetal growth even in
low-oxygen environments.
The future of personalized cancer
treatment - An entirely new direction for RNAi delivery
In technology that promises to one day
allow drug delivery to be tailored to an individual patient and a particular cancer tumor,
researchers at the University of California, San Diego School of Medicine, have developed
an efficient system for delivering siRNA into primary cells. The work will be published in
the May 17 in the advance on-line edition of Nature Biotechnology. "RNAi has an
unbelievable potential to manage cancer and treat it," said Steven Dowdy, PhD, Howard
Hughes Medical Institute Investigator and professor of cellular and molecular medicine at
UC San Diego School of Medicine. "While there's still a long way to go, we have
successfully developed a technology that allows for siRNA drug delivery into the entire
population of cells, both primary and tumor-causing, without being toxic to the
cells." For many years, Dowdy has studied the cancer therapy potential of RNA
inhibition which can be used to silence genes through short interfering, double-stranded
RNA fragments called siRNAs. But delivery of siRNAs has proven difficult due to their size
and negative electrical charge – which prohibits them from readily entering cells. A
small section of protein called a peptide transduction domain (PTD) has the ability to
permeate cell membranes. Dowdy and colleagues saw the potential for PTDs as a delivery
mechanism for getting siRNAs into cancer cells. He and his team had previously generated
more than 50 "fusion proteins" using PTDs linked to tumor-suppressor proteins.
"Simply adding the siRNAs to a PTD didn't work, because siRNAs are highly negatively
charged, while PTDs are positively charged, which results in aggregation with no cellular
delivery," Dowdy explained. The team solved the problem by making a PTD fusion
protein with a double-stranded RNA-binding domain, termed PTD-DRBD, which masks the
siRNA's negative charge. This allows the resultant fusion protein to enter the cell and
deliver the siRNA into the cytoplasm where it specifically targets mRNAs from
cancer-promoting genes and silences them.
Study finds genetic links to age of
first menstrual period and menopause
Newly identified gene variants associated
with the age at which females experience their first menstrual period and the onset of
menopause may help shed light on the prevention of breast and endometrial cancer,
osteoporosis, and cardiovascular disease. In a new study, researchers from Harvard School
of Public Health (HSPH), Brigham and Women's Hospital (BWH), National Cancer Institute
(NCI), and the Broad Institute of Harvard and MIT report that they have identified 10
genetic variants in two chromosomal regions associated with age at menarche (the first
menstrual period), and 13 genetic variants in four chromosomal regions associated with age
at natural menopause. The paper, "Genome-wide association studies identify loci
associated with age at menarche and at natural menopause," will publish online in
Nature Genetics on May 17, 2009 (
http://www.nature.com/ng/journal/vaop/ncurrent/index.html ). Menarche and natural
menopause are two important physiological events in a woman's life. An early onset of
menarche and later menopause are well-established risk factors for the development of
breast cancer and endometrial cancer, the researchers explain. On the other hand, early
menopause increases risk of osteoporosis and cardiovascular disease.
Previous studies have suggested both menarche and menopause may be partially under genetic
control. To identify common genetic variants influencing these states, the researchers
analyzed more than 317,000 gene variants in a total of 17,438 women from the Nurses'
Health Study (NHS) and the Women's Genome Health Study (WGHS) based at BWH. "At these
newly identified loci, fine mapping or sequencing might lead to identification of the
causal variants, and thus expand our knowledge of the underlying physiology and biological
regulation of these traits," said lead author Chunyan He, who was a doctoral student
in the HSPH Department of Epidemiology while conducting the research. "Insights into
the genetic factors in?uencing the timing of menarche and natural menopause might shed
light on normal reproductive function and the prevention of the diseases associated with
these two traits."
Sodium channel blocker shows
promise as a potential treatment for cystic fibrosis
Cystic fibrosis patients may benefit from a
new therapy that increases airway hydration, preventing the buildup of mucous, which is a
key factor in the disease, according to researchers at Parion Sciences in Durham, N.C. The
research will be presented on Sunday, May 17, during the American Thoracic Society's 105th
International Conference in San Diego. "Our results suggest that we have identified a
new agent that acts directly on a specific pathway, which is involved in the development
of cystic fibrosis," said lead author Andrew Hirsh, Ph.D., senior director of drug
discovery and preclinical development for Parion Sciences.
In normal respiration, the moist surface of the airway allows individuals to effectively
clear mucous, keeping airways open and viable. But in individuals with cystic fibrosis,
the hydration level of the airway is altered and the airway mucous builds up, interfering
with normal respiration. One of the mechanisms causing airways to not clear mucous
correctly in these patients involves the body's natural homeostasis of sodium which, when
absorbed too quickly from the surface of the airway, causes moisture to become absorbed
too quickly. "Cystic fibrosis patients have a genetic ion transport defect, which
decreases the hydration level on the airway surface and therefore reduces the body's
ability to effectively clear mucous, which is a primary defense mechanism of the
respiratory system," Dr. Hirsh said. "Diminished mucous clearance leads to
chronic respiratory infection and impaired pulmonary function. Currently there are no
therapies available to specifically target this channel in patients with cystic
fibrosis." The aerosol-based therapy uses a specific epithelial sodium
channel-blocking agent called GS-9411, which prevents sodium from being absorbed across
the airway, allowing the surface to remain moist. The increase in moisture allows
individuals to more effectively clear the airway of mucous and infectious agents.
Environmental Exposures May Damage
DNA in as Few as Three Days
Exposure to particulate matter has been
recognized as a contributing factor to lung cancer development for some time, but a new
study indicates inhalation of certain particulates can actually cause some genes to become
reprogrammed, affecting both the development and the outcome of cancers and other
diseases. The research will be presented on Sunday, May 17, at the 105th International
Conference of the American Thoracic Society in San Diego. “Recently, changes in gene
programming due to a chemical transformation called methylation have been found in the
blood and tissues of lung cancer patients,” said investigator Andrea Baccarelli,
M.D., Ph.D., assistant professor of applied biotechnology at the University of Milan.
“We aimed at investigating whether exposure to particulate matter induced changes in
DNA methylation in blood from healthy subjects who were exposed to high levels of
particulate matter in a foundry facility.” Researchers enrolled 63 healthy subjects
who worked in a foundry near Milan, Italy. Blood DNA samples were collected on the morning
of the first day of the work week, and again after three days of work. Comparing these
samples revealed that significant changes had occurred in four genes associated with tumor
suppression. “The changes were detectable after only three days of exposure to
particulate matter, indicating that environmental factors need little time to cause gene
reprogramming which is potentially associated
with disease outcomes,” Dr. Baccarelli said. “As several of the effects of
particulate matter in foundries are similar to those found after exposure to ambient air
pollution, our results open new hypotheses about how air pollutants modify human
health,” he added. “The changes in DNA methylation we observed are reversible
and some of them are currently being used as targets of cancer drugs.” Dr. Baccarelli
said the study results indicate that early interventions might be designed which would
reverse gene programming to normal levels, reducing the health risks of exposure. “We
need to evaluate how the changes in gene reprogramming we observed are related to cancer
risk,” he said. “Down the road, it will be particularly important not only to
show that these changes are associated with increased risk of cancer or other
environmentally-induced diseases, but that, if we were able to prevent or revert them,
these risks could be eliminated.”
Sleep may be factor in weight
control
Could sleep be a critical component to
maintaining a healthy body weight? According to new research to be presented on Sunday,
May 17, at the American Thoracic Society's 105th International Conference in San Diego,
body mass index (BMI) is linked to length and quality of sleep in a surprisingly
consistent fashion. As part of the Integrative Cardiac Health Project at Walter Reed Army
Medical Center, researchers analyzed the sleep, activity and energy expenditures of 14
nurses who had volunteered for a heart-health program at the Walter Reed, where the nurses
were employed. The program included nutritional counseling, exercise training, stress
management and sleep improvement. Each participant wore an actigraphy armband that
measured total activity, body temperature, body position and other indices of activity and
rest. "When we analyzed our data by splitting our subjects into 'short sleepers' and
'long sleepers,' we found that short sleepers tended to have a higher BMI, 28.3 kg/m2,
compared to long sleepers, who had an average BMI of 24.5. Short sleepers also had lower
sleep efficiency, experienced as greater difficulty getting to sleep and staying
asleep," said lead investigator Arn Eliasson, M.D. Surprisingly, overweight
individuals tended to be more active than their normal weight counterparts, taking
significantly more steps than normal weight individuals: 14,000 compared to 11,300, a
nearly 25 percent difference, and expending nearly 1,000 more calories a day—3,064
versus 2,080.
New tool isolates RNA within
specific cells
A team of University of Oregon biologists,
using fruit flies, has created a way to isolate RNA from specific cells, opening a new
window on how gene expression drives normal development and disease-causing breakdowns.
While DNA (deoxyribonucleic acid) provides an identical genetic blueprint in every cell,
RNA (ribonucleic acid) decodes genetic instructions that turn protein molecules on and off
in different cell types.
The new tagging method, tested in a variety of subsets of Drosophila brain cells, is
described in a paper put on line ahead of regular publication by the journal Nature
Methods. Instead of scientists needing to physically separate cell types, they now can
inject a chemically modified gene from the one-celled organism Toxoplasma gondii and
activate it in only one cell type within a tissue. Only newly generated RNA in this cell
type is then tagged and isolated. "By analyzing RNA from different cell types, we can
begin to understand how cellular differences are generated," said lead author Michael
R. Miller, a National Science Foundation-funded doctoral student in the lab of Chris Doe,
a UO biologist and Howard Hughes Medical Institute (HHMI) investigator. "Our new
TU-tagging method should be useful for isolating cell-type specific RNA from other
organisms, including mammals, and should be useful in broad areas of research including
studies of development, neurobiology and disease." The new non-toxic, non-invasive
method makes it possible to "listen in" to the messages -- in fact, messenger
RNA -- that the nucleus is sending each cell, without perturbing the cell, Doe said.
"It is much like eavesdropping on a phone conversation, rather than pulling the
person out of the house for questioning. The cell has no idea that its RNAs are being
'tagged' for isolation and study. That's good, because we get a more accurate idea of what
the cell is saying."
Genes that influence start of
menstruation identified for first time
Researchers from the Peninsula Medical
School, along with collaborators from research institutions across Europe and the United
States, have for the first time identified two genes that are involved in determining when
girls begin menstruation. The work will be published in Nature Genetics this weekend. The
findings of the study could have ramifications for normal human growth and weight too,
because early-age menstruation is also associated with shorter stature and increased body
weight. In general, girls who achieve menstruation earlier in life tend to have greater
body mass index (BMI) and a higher ratio of fat compared to those who begin menstruation
later. The study carried out an analysis of 17,510 women across eight different
international population-based sources. This number included women of European descent who
reported the age at which they reached menstruation of between nine and 17 years. The two
genes identified were on chromosomes nine and six. One in 20 females carry two copies of
each of the gene variations which result in menstruation starting earlier, and they will
start menstruating approximately four and half months earlier than those with no copies of
the gene variants.
DNA-Prokids - genetic
identification against traffic in human beings
DNA-Prokids, an international project on
human trafficking prevention and fight using genetic identification of victims and their
relatives, was officially presented today, at the University of Granada (UGR)
headquarters, in Spain. Traffic in human beings is one of the most frequent and profitable
crimes at the beginning of the 21st century. According to data from the United Nations
Office on Drugs and Crime (UNODC), approximately two million people are victims of human
trafficking across the world. UN Secretary-General, Ban Ki-Moon, stated recently that
“trafficking in weapons, drugs and blood diamonds has long been on the UN
agenda” and that now is the time to “add people to that list”. Upon
suggestion of the UGR Genetic Identification Laboratory, an international project for
genetic identification of missing children and their families was set up in 2004. The goal
was to not limit the scope of research to domestic crimes, but to spread results worldwide
with the aim of boosting the international fight against human trafficking. That was the
start of DNA-Prokids, an initiative which has been praised by authorities and experts in
genetic identification all over the world, and whose piloting experiences in countries
such as Guatemala, Mexico, Philippines and Indonesia are being extremely successful.
Two-thirds of adult population in
Spain eats no fruit at weekends
An international group of researchers has
studied the link between meal times and the choice of foods eaten by Spaniards aged
between 25 and 49. The study, which has been published in the latest issue of the journal
Appetite, analyses the cases of specific foodstuffs, in particular fruit. The results show
that 66% of adults living in Spain eat fruit with their main meals, particularly from
Monday to Friday.
The study, carried out on-line using a sample of 831 people living in Spain aged between
25 and 49, recorded their food intake during the day and related this to the social
context of these kinds of foods. The results show that we eat certain foods in preference
to others depending upon the time of the meal. When it comes to fruit, the study shows
that 66% of adults eat it with their main meals, although it is not a major component of
these meals. According to the study's authors, most fruit is consumed during the day
around 3pm and after 7pm. In addition, the data show that fruit is a "Monday to
Friday" food, as it is eaten less frequently at the weekend. The researchers have
also discovered links between some kinds of food and certain contexts. For example, there
is a relationship between the ‘sandwich' and ‘sweets and chocolates' categories
and working at a computer.
Air-fuelled battery could last up
to 10 times longer
Ground-breaking technology has huge
potential for electric cars and renewables. A new type of air-fuelled battery could give
up to ten times the energy storage of designs currently available. This step-change in
capacity could pave the way for a new generation of electric cars, mobile phones and
laptops. The research work, funded by the Engineering and Physical Sciences Research
Council (EPSRC), is being led by researchers at the University of St Andrews with partners
at Strathclyde and Newcastle. The new design has the potential to improve the performance
of portable electronic products and give a major boost to the renewable energy industry.
The batteries will enable a constant electrical output from sources such as wind or solar,
which stop generating when the weather changes or night falls. Improved capacity is thanks
to the addition of a component that uses oxygen drawn from the air during discharge,
replacing one chemical constituent used in rechargeable batteries today. Not having to
carry the chemicals around in the battery offers more energy for the same size battery.
Reducing the size and weight of batteries with the necessary charge capacity has been a
long-running battle for developers of electric cars. The STAIR (St Andrews Air) cell
should be cheaper than today’s rechargeables too. The new component is made of porous
carbon, which is far less expensive than the lithium cobalt oxide it replaces. This
four-year research project, which reaches its halfway mark in July, builds on the
discovery at the university that the carbon component’s interaction with air can be
repeated, creating a cycle of charge and discharge. Subsequent work has more than tripled
the capacity to store charge in the STAIR cell.
University of the Basque Country
researcher develops nanoparticles to be used in genic therapy
Genic therapy can be used both with rare
diseases, such as cystic fibrosis and disorders of the retina, as well as with more common
illnesses, such as AIDS, cancer and neurodegenerative diseases (for example,
Parkinson’s or Alzheimer’s). The author of the PhD is Ms Ana del Pozo Rodríguez
(Vitoria, 1980), a pharmacy graduate, who defended her thesis entitled, Development of
solid lipid nanoparticles as systems for and administration in genic therapy. The
directors of the PhD were Ms Alicia Rodríguez Gascón and Ms María Ángeles Solinís
Aspiazu from the Department of Pharmacy and Food Sciences at the Pharmacy Faculty of the
University of the Basque Country (UPV/EHU). In undertaking the research, the author of the
thesis worked with the Ernest Giralt team at the Institut de Reserca Biomèdica in
Barcelona (IRB Barcelona). Ms del Pozo Rodríguez is currently working as a researcher for
CIBER-BNN at the Pharmacy and Pharmaceutical Technological Laboratory at the Pharmacy
Faculty of the UPV/EHU.
