Downsyndrome.com

DUBLIN, Ireland — Research and Markets (http://www.researchandmarkets.com/reports/c75846) has announced the addition of Compendium of Auditory and Speech Tasks: Children’s Speech and Literacy Difficulties 4, 4 with CD-ROM to their offering.

The book summarises research findings from a range of projects using a set of auditory and speech procedures designed for the psycholinguistic framework developed by Stackhouse and Wells (1997). These procedures have been used with children and adolescents with a range of difficulties associated with cleft lip and palate, dysarthria, dyspraxia, phonological impairment, Down syndrome, dyslexia, stammering, autism, semantic-pragmatic difficulties, general learning difficulties, and disadvantaged backgrounds.

The procedures have also been used with normally developing children in the age range of 3-7 years. As a result, the book includes descriptions of typical performance on the procedures so that atypical can be identified more easily.

In addition, as the materials were used in a longitudinal study of childrens speech and literacy development between the age of 4 and 7 years we can highlight which procedures will help in identifying children a) who are likely to persist with their speech difficulties and b) have associated literacy difficulties.

Authors Bio:

Professor Joy Stackhouse: Professor of Human Communication Sciences Professor

Bill Wells: Professor/Head of Department

Dr Michelle Pascoe: ESRC/MRC Research Fellow

All of Department of Human Communication Sciences, University of Sheffield, U.K.

Dr Maggie Vance, Lecturer and Research Fellow, Department of Human Communication Sciences, University College London

For more information visit http://www.researchandmarkets.com/reports/c75846.

COPYRIGHT 2007 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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Biologists, Chemists, Clinicians from Harvard, Stanford, University of Washington, the Scripps Research Institute, and Massachusetts General Hospital Partner with Top Investor Groups

Technology Bypasses Current Debate on Ethical Use of Embryonic Stem Cells by Using Pharmaceutical Medicines to Modulate Stem Cells inside the Body and via the Use of "Reprogrammed" Adult Stem Cells

SEATTLE — A group of the nation’s most respected leaders in stem cell biology today announced formation of Fate Therapeutics, a new biotechnology company developing drugs to control cell fate. Fate will harness the healing power of adult stem cells by using small molecule drugs to modulate cells in vivo (in the body) and by reprogramming mature adult cells into stem cells.

"Fate’s approach is the dawn of a new day in medicine," said Dr. Ben Shapiro, retired Executive Vice President of Worldwide Basic Research, Merck Research Laboratories, and a member of Fate’s Science Advisory Board.

"Revolutionary advances in stem cell research have shifted the entire debate. We are proving that adult stem cell proliferation and differentiation can be modulated in the human body, and we now have the ability to induce pluripotent stem cells from adult human tissue rather than relying on the use of stem cells derived from embryos."

The company expects to have a lead adult stem cell modulating drug, in a cancer-related indication, enter the clinic in 2008.

Fate Therapeutics’ Revolutionary Platform is Two-Fold

The Fate platform focuses on both regenerative and reprogramming medicine. The Fate regenerative medicine platform involves developing drugs that awaken adult stem cells in the body to repair damaged cells and tissues. The Fate reprogramming medicine platform involves developing drugs to reprogram mature adult cells into stem cells, which when differentiated can become healthy heart, bone, brain or other tissues.

Applications of these two approaches include treating the effects of neurological diseases such as Down syndrome, Alzheimer’s and Parkinson’s; healing damaged heart tissue after heart attacks; increasing bone and muscle strength in the severely frail; and protecting organs after infection or transplantation. Fate will also tackle devastating cancers, such as pancreatic and colorectal cancer, by developing drugs to prevent the expansion and maturation of cancer stem cells.

Fate’s Approach Differs Significantly from Others Working with Stem Cells

To date, most stem cell companies have focused on cell therapy using harvested cells from cord blood or other tissues. In contrast, Fate’s approach focuses exclusively on traditional therapeutics, namely small molecules and protein therapeutics, to direct cell fate. In addition to its novel approach, Fate’s work has potential broad application across all degenerative diseases, developmental disorders and cancers, and in enabling the creation of healthy patient-identical cells for transplantation.

"We have looked at investing in many stem cell companies, but the science and commercial reality just wasn’t there yet," said Robert Nelsen, founding partner of ARCH Venture Partners, whose firm co-founded Fate. "Now is the perfect storm; the right biology breakthroughs; a targeted way to use real drugs; and the leading scientists, entrepreneurs, and investors — all in the same company to develop breakthrough medicines."

Founders’ Breakthroughs Are Breathtaking in Scope and Implication

Fate’s founders include researchers from across the United States and multiple scientific disciplines, including basic biology, biological chemistry and translational medicine. As authors of many of the most far-ranging breakthroughs in stem cell science, the team is defining the changes in the field:

* Philip Beachy, Ph.D., Stanford University Institute for Stem Cell Biology and Regenerative Medicine and HHMI, has pioneered the use of synthetic small molecules and natural products to manipulate activities of developmental and stem cell signaling pathways in vitro and in vivo.

* Sheng Ding, Ph.D., Scripps Research Institute, has worked on the identification of small molecules and genes that control cell fate, including cell reprogramming and differentiation. Dr. Ding’s work has important implications for the development of small molecule drugs that can potentiate adult stem cells in vivo, and reprogram differentiated cells to new functions.

* Randall Moon, Ph.D., University of Washington, Director, Institute for Stem Cell and Regenerative Medicine, HHMI, and UW Department of Pharmacology, has focused on illuminating the biological pathways that control adult stem cells during the process of regeneration to develop new therapeutic methods to activate regeneration.

* David Scadden, M.D., Professor, Harvard University, Co-director and Co-founder, Harvard Stem Cell Institute, Director Massachusetts General Hospital Center for Regenerative Medicine, has broken new ground in understanding how blood forming stem cells and other adult stem cells are maintained in the adult body in specialized niches, and in developing therapies that exploit this biology to modulate adult stem cells in vivo.

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Attorneys Larry Mass and Barry Haith shared a similar experience when each learned his newborn child had Down syndrome — they were overwhelmed.

“I didn’t know how to act,” Mass said about the birth of his daughter Paula, now 24. “She was just born. I was told when she was just a few hours old.”

That feeling subsided with time, though, and was replaced by pride, the two fathers said — just like that of any other parent.

The experience led Haith, with the law firm Lathrop & Gage, and Mass, a solo practitioner, to the Down Syndrome Association of Greater St. Louis. The nonprofit offers counseling and awareness training for people with Down syndrome and their families. Mass is a former board member and chair for the group and Haith is currently a member of the board.

With more sophisticated testing available, expectant parents are finding out earlier than in the past if their child has the congenital condition.

“There is a huge amount of support [now] for new parents, whether they know for sure or not that their child has Down syndrome,” said Debby Rally, the manager at the association’s office. “It helps them first with getting over the grieving process that they’re not going to get this perfect baby.”

Experience mentors

Haith said the adjustment was not easy when his now-2-year-old son Elijah was diagnosed, but the association helped him cope.

“It’s the one safe harbor when facing all those challenges,” Haith said of the association’s counseling program, which puts more experienced parents in touch with new or expecting parents. “It’s comforting to know people have faced those challenges and addressed them successfully. It’s sort of leading by example, seeing another family do these things well.”

Mass described a similar situation when he found out Paula was diagnosed with Down syndrome.

“I was told when she was just a few hours old,” he said. “That counseling support is lasting, and it is exceedingly important as you go through different phases.”

Mass would become president of the association’s board of directors, a position he held more than 20 years ago. Back then the annual budget reaching $12,000 was the mark of a good year for the organization. Today the organization is exponentially larger financially and in total scope with an annual budget of $383,000. It serves 2,000 people in the region, both new families and older individuals with Down syndrome who may have been ignored in the past.

“There are probably more out there, and more and more the over- 30 crowd is coming forward.” Rally said. “Those were the ones who never went out of the house. Maybe as recently as 20 years ago, doctors told parents to institutionalize children with Down syndrome because they’d never do anything, they’d never be anything. But life is different now and they’re coming out in the community.”

‘Doing more’

Mass never followed the institutionalization trend and said related issues were never a problem for his daughter two decades ago. Haith said he is grateful his son was during a time of more resources and opportunities for people diagnosed with Down syndrome.

“We’re lucky that Eli was born in this era and not 30 or 40 years ago,” Haith said. “People now understand if you give the appropriate developmental tools, it’s remarkable what anyone can do.

“Even people who were born typical can have significant delays if they are ignored. If given a chance, there are incredible heights … folks can reach. It’s just about opening doors that were closed before.”

Those doors seem to be staying open longer with time, said Mass, whose daughter has been successful volunteering and working around town.

“We’re doing more work to help young adults,” he said. “Before, you would see parents drop out of the organization once their child got older, but I don’t think we’re seeing that today.”

Haith is hopeful he can bring the organization to new heights and enjoy some of the lighter aspects of parenthood.

“The emotion that I went through was a concern about doing everything the right way, overwhelmed at how much I needed to learn,” he said. “But once all the worries subside, you realize you won’t be a perfect parent and you just do the best you can.”

Copyright 2007 Dolan Media Newswires
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Many health professionals are giving expectant parents a one sided picture that can leave parents with a sense of despair, the Nova Scotia Down Syndrome Society claims.

The society points out that advances in genetic science promises of improved treatments for genetic conditions. In the case of Down Syndrome, "it is sadly leading to the disappearance of an entire population."

The society says that statistics show that well over 90% of pregnancies are terminated if the fetus is diagnosed with Down syndrome. "Women who receive a prenatal diagnosis often receive biased or no counseling, and incomplete information describes only the possible medical problems children with Down Syndrome might encounter, with out mentioning any of the positive aspects, such as: how a child with Down Syndrome might lead a healthy and rich life, often times not that much different than a child who does not have Down Syndrome."

Renate Lindeman, President of the NS society asks, "Why has an expansion of prenatal screening programs, that affect our whole society, been implemented without a social debate and relevant insights from people living with Down Syndrome or advocacy groups? And why are these tests offered to women without appropriate counseling, and complete and balanced intbrmation?"

The group sees the current programs of prenatal screening for Down Syndrome as a misuse of science.

COPYRIGHT 2007 Community Action Publishers
COPYRIGHT 2008 Gale, Cengage Learning

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LOGAN — Emily Hastings was all smiles.

The 22-year-old from Kearns had just tied for first place in the Special Olympics by squatting with a 155-pound barbell on her shoulders.

It didn’t matter to her that there were only three women in the powerlifting competition. The Special Olympics are more about participating than winning.

“Special Olympics is like a second family to me because I have all my friends here,” Hastings said.

More than 150 athletes from throughout northern Utah converged on Utah State University on Saturday for the annual Special Olympic Indoor Games.

Some have cerebral palsy, others have Down syndrome or muscular dystrophy, and some have developmental disabilities. Some are thin, preteen girls; others are balding, middle-aged men. Some are even in wheelchairs.

But all seemed to be enjoying themselves.

Michael Prill, a 21-year-old from Salt Lake City, used his 6- foot, 8-inch frame to lead the Dyno Stars to a 51-33 victory over the Hartvigsen Howlers of Salt Lake in the basketball tournament.

Prill, a center who averages 10 points a game and prides himself on his killer defense, said he plays simply “for the fun of it.”

Unlike in some Special Olympic events, the coaches were allowed to play with the athletes in Logan. Daniel Grant, a 25-year-old criminal justice major, coaches one of Weber State University’s three Special Olympic basketball teams.

He said it’s gratifying to see a new, shy athlete join the team and quickly be accepted. And he said the players encourage each other when things go badly instead of getting down on each other.

“Honestly, I love it,” said Grant, who played football and basketball for the University of New Mexico. “It’s too much fun.”

Special Olympics is a nonprofit organization that provides year- round sports training to more than 2.25 million people with disabilities in more than 160 countries. Various groups sponsored the Indoor Games in Logan, including Harmons grocery stores, Weather Shield window manufacturers and the Law Enforcement Torch Run.

A grant from USU’s Val R. Christensen Service Center also helped fund the event, and more than 250 volunteers, mostly USU students, assisted. In addition to basketball, swimming and powerlifting, there were opening and closing ceremonies and a dance at the end of the day.

Cameron Salony, the event’s director, said sports teach disabled people how to get along in society.

“It helps them develop and gain social skills and interact with others,” Salony said. “They have to follow the rules. They have a good understanding of what’s expected of them.”

Winners in the powerlifting and swimming events received gold, silver or bronze medals, as in the traditional Olympics. But, unlike the traditional Olympics, no one went away empty-handed Saturday. Every athlete received at least a ribbon, Salony said.

But he said his reward is watching the athletes compete.

“The thing I love about it is just seeing them smile and clap their hands,” Salony said. “They shake everyone’s hand — high fives all around.”

For powerlifter Hastings, the games were an opportunity to set personal records.

“It’s that I know I can do better than I can,” she said.

Her mother, Barbara Hastings, said Emily prepared for her winning performance by working out at Gold’s Gym three times a week.

“She’s put in the time it takes,” the elder Hastings said. “We know that she’s trained hard and deserves it.”

Barbara said the Logan event is important to her daughter, Emily.

“She looks forward to it all year long.”

E-mail: mikewennergren@yahoo.com

Copyright C 2007 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Geneticist whose work on chromosome defects included the identification of Edwards syndrome

Edwards syndrome is, after Down’s syndrome, the most common disease caused by having an extra chromosome. Its discovery was one of many advances made by John Edwards, Emeritus Professor of Genetics at Oxford University.

Others included suggesting that placental sampling, introduced to detect Rhesus-negative babies, should also be used to detect chromosome abnormalities such as Down’s syndrome. This is now a routine procedure. He contributed to our knowledge of the inherited form of hydrocephalus, and also reported a series of 20 cases of a rare genetic disease, Cornelia de Lange syndrome. He developed a widely-used research tool called the “Oxford grid” to map and compare gene sequences in different animal species, including humans.

Edwards was the son of a London surgeon. He didn’t learn to read until he was nine, in part because he was rarely read to, which he later said gave him time to think. From Uppingham School, he went to Trinity Hall, Cambridge to study medicine, doing his clinical training at the Middlesex Hospital in London. While at the Middlesex he married Felicity Toussaint, a fellow medical student from Oxford.

He then did his National Service in the Artists’ Rifles, part of the territorial SAS, where he learned to parachute. He described parachuting from a balloon as the most frightening experience of his life. He followed this with nine months as ship’s doctor - doubling as dentist - on a scientific research ship, the John Biscoe, voyaging round the South Atlantic and Antarctic. On his return he was found to have tuberculosis at the top of one lung, for which he was prescribed bed-rest. He passed the time by teaching himself statistical methodology.

After his recovery, he spent three years in junior medical jobs in general medicine, neurology, pathology and psychiatry, at hospitals in London and Hampshire. In 1956 he joined Birmingham University, where he spent 27 years. He started as Lecturer in the Department of Social Medicine in the Institute of Child Health, and rose to be Professor of Human Genetics, heading a new department of clinical genetics. It was during his first year there, when placental sampling had been introduced nationally, that he suggested via The Lancet that it could be used to detect genetic abnormalities.

During his time at Birmingham, he spent 1958-60 at the Population Genetics Unit of Oxford University, returning to Birmingham regularly, where he recognised the defects caused by having an extra chromosome 18. He reported these in The Lancet and the syndrome was later named after him.

He spent a sabbatical (1960-61) at the Philadelphia Children’s Hospital, and 1966-67 at the New York Blood Center and Cornell Medical Center. During his time at Philadelphia he attended a now- famous genetics course at Bar Harbor in Maine, organised and presented by Professor Victor McKusick of Baltimore. They became friends, and in later years Edwards taught in the course. In 1979, his last year at Birmingham, he was elected to fellowship of the Royal Society.

As Professor of Genetics at Oxford from 1979, his main work was in the development of the “Oxford grid”, a chart for mapping and comparing gene sequences in different species of animals; he found comparable linked strings of genes in a range of animals, a concept called “syngeny”. In Sydney, where Edwards did collaborative work, there is an “Oxgrid project”.

He made many other contributions: he played a major role in human gene-mapping workshops held between 1973 and 1991; directed the West Midlands Human Cytogenetics Laboratory for four years; and was Visiting Professor at Newfoundland University. He was a genetics consultant to the World Health Organisation from 1972, and a consultant genetics investigator in Iceland, which is extensively studied for its compact gene pool. This meant several visits to Iceland, on one occasion overlapping with the Fischer-Spassky chess matches and meeting Boris Spassky. His interests in restricted gene pools also extended to Labrador, Newfoundland, pigs in Australia and sheep in New Zealand.

At the Social Medicine Department at Birmingham, John Edwards had been mentored by Lancelot Hogben, author of Mathematics for the Million, one of the most successful science books ever written. John Edwards’s brother Anthony had a parallel career as a statistical geneticist at Cambridge, originally working under the statistician R.A. Fisher. The two brothers were nicknamed “Hogben’s Edwards” and “Fisher’s Edwards”.

Edwards, slender and boffin-like, was loved and respected for his support for his junior workers, his good nature and his altruism. Sir Walter Bodmer, who preceded him as professor at Oxford, said, “He had a fine feel for the subject of human genetics, including a historical perspective, and always an original way of looking at problems and presenting them.” Sir David Weatherall, Regius Professor of Medicine at Oxford, said Edwards was “one of the nicest and cleverest of our field”. And Professor Victor McKusick, of Johns Hopkins, said, “John was of quick wit in both senses of the word. His humour was rarely if ever malicious or unkind. Among his colleagues his absentmindedness was legendary, and it enhanced rather than detracted from the respect in which his colleagues held him.”

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Scrutinizing the first days of development in abnormal embryonic stem cells, researchers have uncovered a basic mechanism underlying fragile X syndrome, the most common inherited cause of mental retardation in boys.

"It could have important implications for treatment," says W. Ted Brown, cochair of the scientific committee of the National Fragile X Foundation, which helped fund the work.

The research also highlights the value of embryonic stem cells for studying genetic diseases, says Yang Xu, a stem cell researcher at the University of California, San Diego.

Fragile X syndrome is caused by a mutation in a gene called fmr1. By stopping the gene from making its protein, the mutation leads to learning disabilities, elongated facial features, speech and language difficulties, emotional problems, and other symptoms. In boys, who have only one copy of the X chromosome, a single bad fmr1 gene inherited from either parent induces the disorder. Fragile X syndrome more rarely affects girls, who have two X chromosomes.

While researchers have long known that the fragile X mutation shuts down the gene, they were unsure how or at what developmental stage the disruption occurs. To study the shutdown, Nissim Benvenisty and his colleagues at the Hebrew University in Jerusalem created three embryonic stem cell lines carrying the mutation.

The cells came from embryos donated by couples with a family history of fragile X syndrome who visited an Israeli in vitro fertilization (IVF) clinic. Many IVF clinics now offer pre-implantation genetic diagnosis (PGD), which identifies genetically flawed embryos.

To do a PGD, technicians pluck one cell out of a 3-day-old, eight-cell embryo. Tests then reveal whether the cell–and hence the embryo–carries specific mutations. If it does, the embryo normally is "discarded immediately," says Benvenisty. But his team instead received consent from the couples to study any embryos carrying the fragile X mutation. The team grew several such embryos for about 5 days–to a stage called a blastocyst–and then teased stem cells out of the structure’s inner wall.

Despite carrying the fragile X mutation, the embryonic cells unexpectedly produced the fmr1 protein. "We were extremely surprised," says Benvenisty. But when the team prodded the cells to begin developing into a range of tissues, the gene promptly shut down. "The [mutation] itself is not sufficient for the gene silencing," says Benvenisty. "Something happens during development."

Delving further, the team determined that changes in the gene’s wrapper, a structure called chromatin, switched off the gene. Those changes occur only after cells grow out of their embryonic state, presenting a window of opportunity for drug therapy, says Benvenisty. In addition, chromatin is easier to modify than the gene itself. His team is now screening drugs that might prevent the gene silencing by fixing the chromatin.

Other teams have created stem cells from embryos carrying genetic diseases, but Xu says that this is the first time the method has yielded a fundamental disease discovery. The study appears in the November Cell Stem Cell.

COPYRIGHT 2007 Science Service, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

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DEAR ABBY: The letter from “Muddled Mommy in Miami” (Sept. 21) really hit home. A child with Down syndrome had made an inappropriate remark to the writer’s 4-year-old son.

I’m the mother of a daughter with Down syndrome. There have often been situations in which she has said or done something inappropriate to another child. I try to intervene when I know about it. I have her apologize to the child and the parent and try to make amends. Sometimes, it turns out that she was misunderstood because of poor speech and language skills.

By all means, Muddled Mommy should say something! This can be a teaching/learning moment for both her son and the other boy. Many children with developmental disabilities are mainstreamed with regular education children in school. Kids with Down syndrome need to be taught proper social skills so they can have a relationship …

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Veni, vidi, vino…

The new Aston Martin DBS is among 59 competitors in this year’s Hackett Beaujolais Run, which began early this morning at the Goodwood circuit in Sussex and finishes on Thursday. Teams - from Morris Minors to Maseratis - tackle a “navigational shoot-out” en route to pick up the plonk in Macon, France, then return to the UK. All sponsorship money goes to the Richard Burns Foundation, Winston’s Wish and the Down’s Syndrome Association.

Mazda’s green tax saver

The all-new Mazda6 goes on sale on Boxing Day, promissing “massive” company car tax savings from cuts in C02 output. The new Mazda6 range is up to five tax groups lower, model-for-model, than the outgoing car. This is largely due to weight reducing engineering techniques, as employed on the MX-5 and Mazda2. An estate will join the saloon and hatchback models in February. There will be a choice of three petrol and one diesel engine.

Skoda’s rocky reception?

Journalists were given a glimpse of two prototypes for the new generation Skoda Superb in unusual circumstances - the extreme conditions of the American desert. The prototypes for the mid-size car, fitted with light camouflage, were developed by the Skoda Auto Technical Development Department. The department is currently undergoing a major expansion of staff and facilities and will provide R&D not only for koda, but for the whole Volkswagen Group. It will be fully operational in 2009.

Copyright c 2007 Independent Newspapers UK Limited. All rights
owned or operated by The Independent.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Byline: Andis Robeznieks

For advocates of primary care, and for payers and purchasers looking to improve healthcare quality while lowering costs, apparently there is no place like home-specifically, a "patient-centered” medical home.

The concept is still poorly defined and its payment structure remains unclear, but some organizations are promoting medical homes as the best solution for fixing a broken healthcare system, and they’re committing time and resources to put various models to the test in demonstration projects throughout the country.

"It’s kind of like …

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