Monday, April 30, 2012

Actor Noah Wyle, Disability Advocates Arrested In DC Protest

Disability Scoop (April 23, 2012)-Dozens of disability advocates — including actor Noah Wyle — were arrested Monday on the grounds of the U.S. Capitol while protesting possible changes to Medicaid.

The activists — many in wheelchairs — were participating in a demonstration organized by the disability rights group ADAPT. Members of the organization positioned themselves in the rotunda of the Cannon House Office Building and refused to leave prompting the arrests, according to ADAPT representatives.

Officials with the U.S. Capitol Police said they arrested 76 individuals at the protest who were charged with unlawful conduct and demonstrating in the Capitol.

Members of ADAPT say they are speaking out amid a “dire national Medicaid crisis.” Specifically, the group opposes a Republican plan to cut federal Medicaid funding and favors an elimination of the so-called “institutional bias” whereby states provide nursing care to individuals with disabilities in institutional settings, but often are not required to offer similar assistance in the community.

“Cutting or changing Medicaid without thoughtful reform has very real life or death consequences for people with disabilities and people who are aging who live on fixed incomes that are significantly below the poverty level,” said Marsha Katz who traveled from Montana to participate in the ADAPT actions. “Washington should be putting our tax dollars into cost-saving community based services, not costly nursing homes and institutions.”

Wyle, who is best known for appearing on NBC’s “ER” and is a vocal advocate for universal health care, joined the protesters and was among those detained.

To read more, please click on the above title.

To access the CDR Library catalog, please click on this link.

Friday, April 27, 2012

Strong Support for Once-Marginalized Theory On Parkinson’s Disease

ScienceDaily (Apr. 25, 2012) University of California, San Diego scientists have used powerful computational tools and laboratory tests to discover new support for a once-marginalized theory about the underlying cause of Parkinson's disease.

The new results conflict with an older theory that insoluble intracellular fibrils called amyloids cause Parkinson's disease and other neurodegenerative diseases. Instead, the new findings provide a step-by-step explanation of how a "protein-run-amok" aggregates within the membranes of neurons and punctures holes in them to cause the symptoms of Parkinson's disease.

The discovery, published in the March 2012 issue of the FEBS Journal, describes how α-synuclein (a-syn), can turn against us, particularly as we age. Modeling results explain how α-syn monomers penetrate cell membranes, become coiled and aggregate in a matter of nanoseconds into dangerous ring structures that spell trouble for neurons.

"The main point is that we think we can create drugs to give us an anti-Parkinson's effect by slowing the formation and growth of these ring structures," said Igor Tsigelny, lead author of the study and a research scientist at the San Diego Supercomputer Center and Department of Neurosciences, both at UC San Diego.

Familial Parkinson's disease is caused in many cases by a limited number of protein mutations. One of the most toxic is A53T. Tsigelny's team showed that the mutant form of α-syn not only penetrates neuronal membranes faster than normal α-syn, but the mutant protein also accelerates ring formation.

To read more about Pakinson's Disease, please click on the title.

To access the CDR Library catalog, please click on this link.

Thursday, April 26, 2012

How PCBs Promote Dendrite Growth, May Increase Autism Risk

ScienceDaily (Apr. 25, 2012) New research from UC Davis and Washington State University shows that PCBs, or polychlorinated biphenyls, launch a cellular chain of events that leads to an overabundance of dendrites -- the filament-like projections that conduct electrochemical signals between neurons -- and disrupts normal patterns of neuronal connections in the brain.

"Dendrite growth and branching during early development is a finely orchestrated process, and the presence of certain PCBs confuses the conductor of that process," said Pamela Lein, a developmental neurobiologist and professor of molecular biosciences in the UC Davis School of Veterinary Medicine. "Impaired neuronal connectivity is a common feature of a number of conditions, including autism spectrum disorders."

Reported April 24 in two related studies in the journal Environmental Health Perspectives, the findings underscore the developing brain's vulnerability to environmental exposures and demonstrate how PCBs could add to autism risk.

"We don't think PCB exposure causes autism," Lein said, "but it may increase the likelihood of autism in children whose genetic makeup already compromises the processes by which neurons form connections."

The senior authors of the studies were Lein and Isaac Pessah, chair of molecular biosciences in the School of Veterinary Medicine and director of the Center for Children's Environmental Health at UC Davis. Both are researchers with the UC Davis MIND Institute, which is dedicated to finding answers to autism and other neurodevelopmental disorders. The lead author was Gary Wayman of Washington State University's Program in Neuroscience, who first described the molecular pathway that controls the calcium signaling in the brain that guides normal dendrite growth.

To read more about PCBs and Autism, please click on the above title.

To access the CDR Library catalog, please click on this link.

Agent Reduces Autism-Like Behaviors in Mice: Boosts Sociability, Quells Repetitiveness

ScienceDaily (Apr. 25, 2012) National Institutes of Health researchers have reversed behaviors in mice resembling two of the three core symptoms of autism spectrum disorders (ASD). An experimental compound, called GRN-529, increased social interactions and lessened repetitive self-grooming behavior in a strain of mice that normally display such autism-like behaviors, the researchers say.

GRN-529 is a member of a class of agents that inhibit activity of a subtype of receptor protein on brain cells for the chemical messenger glutamate, which are being tested in patients with an autism-related syndrome. Although mouse brain findings often don't translate to humans, the fact that these compounds are already in clinical trials for an overlapping condition strengthens the case for relevance, according to the researchers.

"Our findings suggest a strategy for developing a single treatment that could target multiple diagnostic symptoms," explained Jacqueline Crawley, Ph.D., of the NIH's National Institute of Mental Health (NIMH). "Many cases of autism are caused by mutations in genes that control an ongoing process -- the formation and maturation of synapses, the connections between neurons. If defects in these connections are not hard-wired, the core symptoms of autism may be treatable with medications."

Crawley, Jill Silverman, Ph.D., and colleagues at NIMH and Pfizer Worldwide Research and Development, Groton, CT, report on their discovery April 25th, 2012 in the journal Science Translational Medicine.

To read more about Autism, please click the above title.

To access the CDR Library catalog, please click on this link.

Wednesday, April 25, 2012

South Carolina Youth Leadership Forum

YLF is Accepting Applications Through May 1st!

Students 17-21 years old are invited to attend the SC Youth Leadership Forum (YLF) on July 11-13, 2012 at Newberry College in Newberry, SC. This is a three-day program for SC students with disabilities who have demonstrated leadership potential in both their school and community. The leadership forum is designed to assist youth with disabilities in further developing leadership, citizenship, and social skills by using resources that can help them face challenges in becoming participating members of their communities.

There is no charge to attend YLF and all meals are provided. Students are responsible for providing their own transportation to and from Newberry College. More information and the application can be found at . The completed application packet must be postmarked by April 16, 2012. Please indicate what assistive technology accommodations (e.g. fm system, text-to-speech software, magnifier, or wheelchair) you use and will need during the forum.

The forum will include guest speakers, small and large group discussions, team-building activities, ropes course, mentor luncheon, and FUN!

For more information contact:


c/o PROParents

652 Bush River Road

Suite 203

Columbia, SC 29210


The SC Youth Leadership Forum is implemented by state and local partners including PRO-parents, Inc., South Carolina Assistive Technology Program, South Carolina Vocational Rehabilitation Department, Continuum of Care, Wil Lou Gray Opportunity School, South Carolina Division of Career Development and Transition, South Carolina Developmental Disabilities Council and South Carolina Department of Education.

To access the CDR Library Catalog, please click on this link.

Tuesday, April 24, 2012

Literacy Supports Workshop

There is still space available in the following free workshop:

Literacy Supports

Date: April 25, 2012

Time: 9:00 – 11:00am

Presenter: Valeska Gioia, SC Department of Education AT Specialist
SC Assistive Technology Resource Center
Poplar Building, Midlands Center
8301 Farrow Road
Columbia, SC

Cost: Free

Overview of various free aids that can facilitate learning in any classroom and how many students with and without disabilities can benefit by incorporating these study aids into the daily curriculum. Text-to-speech, free and low-cost digital books, speech recognition, colored overlay and concept mapping software will be demonstrated.

Register for the Literacy Supports workshop online

For information about other assistive technology workshops, go to the SCATP Training page

To read more about the Literacy Supports Workshop, please click on the above title.

To access the CDR Library Catalog, please click on this link.

Microsoft 7 Accessibility

Date: May 2, 2012

Time: 9:00 – 11:00am

Presenter: Valeska Gioia, SC Department of Education AT Specialist

SC Assistive Technology Resource Center
Poplar Building, Midlands Center
8301 Farrow Road
Columbia, SC

Cost: Free

Learn how Microsoft 7 has improved their accessibility options with a totally interactive speech recognition program, an on-screen keyboard with several input methods and an improved magnification system. We will also review how other accessibility options can improve learning and computer access for students and demonstrate how to set up Microsoft accessibility options for individual students or for the entire class.

Register for the Microsoft 7 Accessibility workshop online
For information about other assistive technology workshops, go to the SCATP Training page
To read more about Microsoft 7 accessibility, please click on the above title.
To access the CDR Library catalog, please click on this link.

Monday, April 23, 2012

New Stem Cell Found in Brain: Finding Could Be Key to Developing Methods to Heal and Repair Brain Injury and Disease

image of brain cell
ScienceDaily (Apr. 20, 2012) — "Researchers at Lund University in Sweden have discovered a new stem cell in the adult brain. These cells can proliferate and form several different cell types -- most importantly, they can form new brain cells. Scientists hope to take advantage of the finding to develop methods to heal and repair disease and injury in the brain.
Analyzing brain tissue from biopsies, the researchers for the first time found stem cells located around small blood vessels in the brain. The cell's specific function is still unclear, but its plastic properties suggest great potential.

"A similar cell type has been identified in several other organs where it can promote regeneration of muscle, bone, cartilage and adipose tissue," said Patrik Brundin, M.D., Ph.D., Jay Van Andel Endowed Chair in Parkinson's Research at Van Andel Research Institute (VARI), Head of the Neuronal Survival Unit at Lund University and senior author of the study.

In other organs, researchers have shown clear evidence that these types of cells contribute to repair and wound healing. Scientists suggest that the curative properties may also apply to the brain. The next step is to try to control and enhance stem cell self-healing properties with the aim of carrying out targeted therapies to a specific area of the brain.

"Our findings show that the cell capacity is much larger than we originally thought, and that these cells are very versatile," said Gesine Paul-Visse, Ph.D., Associate Professor of Neuroscience at Lund University and the study's primary author. "Most interesting is their ability to form neuronal cells, but they can also be developed for other cell types. The results contribute to better understanding of how brain cell plasticity works and opens up new opportunities to exploit these very features."

The study, published in the journal PLoS ONE, is of interest to a broad spectrum of brain research. Future possible therapeutic targets range from neurodegenerative diseases to stroke."

NOTE: To read the entire article, click on the title above.

NOTE: To access the Center for Disability Resources Library, click on this link.

Friday, April 20, 2012

South Carolina Roadmap to Developmental Screening

image of roadmap
The South Carolina Act Early team is pleased to provide the South Carolina Roadmap to Developmental Screening to people interested in developmental screening and services related to Autism Spectrum Disorders. The roadmap was developed by a team focused on collaboration among leaders representing professionals, state agencies, universities, health care systems, private organizations and families to improve quality of life for children and others with Autism Spectrum Disorders and their families.
The resource is intended as a guide that explains where to receive assistance for a child that may be at risk for an Autism Spectrum Disorder. It also provides an explanation of services, state agencies, assessments, and interventions relevant to this issue. Contact information for the key agencies and organizations is also provided.
You can see a PDF version of the roadmap by clicking on the title above. You can also download a copy from the following websites:

SC Department of Disabilities & Special Needs


USC Center for Disability Resources

South Carolina Autism Society

Greenville Hospital­‐wonders-­‐home.php

Winston’s Wish Foundation

Team for Early Childhood Solutions

SC Department of Education

Family Connection of South Carolina

NOTE: To access the Center for Disability Resources Library, click on this link.

Thursday, April 19, 2012

In Breakthrough, Study Finds Cerebral Palsy Treatable

Disability Scoop (April 19, 2012)-Medication may be able to sharply alter the course of cerebral palsy, scientists said Wednesday, after finding that animals with the developmental condition responded remarkably to a new treatment.

Within five days of being given an anti-inflammatory drug, researchers found that newborn rabbits with cerebral palsy made dramatic progress. The animals were able to walk and hop, tasks they’d had great difficulty with prior to the treatment.

The findings, reported in the journal Science Translational Medicine, offer tremendous promise for people with the developmental disability, researchers said.

“This suggests that there is a window of opportunity to prevent cerebral palsy,” said Roberto Romero, chief of the Perinatology Research Branch of the National Institutes of Health and an author of the study.

For the study, researchers replicated in rabbits the brain inflammation often seen in people with cerebral palsy. They then used tiny molecules known as dendrimers to deliver an anti-inflammatory drug called N-acetyl-L-cysteine, or NAC, directly to the affected part of the brain.

The rabbits that received this treatment showed marked progress as compared to those who received saline or NAC alone without the targeted drug delivery, though benefits were seen in both groups that received medication.

“This is an exciting breakthrough and it certainly points toward new hope for those affected by cerebral palsy,” said Rangaramanujam Kannan, a chemical engineer at Wayne State University who worked on the study. “More questions need to be answered, but the potential is immense.”

To read more about Cerebral Palsy, please click on the above title.

To access the CDR Library catalog, please click on this link.

Wednesday, April 18, 2012

Pill Reduced Number of Multiple Sclerosis Lesions in Phase II Trial

ScienceDaily (Apr. 16, 2012)An investigational oral drug called ONO-4641 reduced the number of lesions in people with multiple sclerosis (MS), according to the results of a phase two clinical trial to be presented as Emerging Science (formerly known as Late-Breaking Science) at the American Academy of Neurology's 64th Annual Meeting in New Orleans April 21 to April 28, 2012.

For the study, 407 people between the ages of 18 and 55 with relapsing-remitting MS were randomly given placebo, 0.05 mg, 0.10 mg, or 0.15 mg of ONO-4641 once per day for 26 weeks. People were included in the study if they had two or more relapses in the two years prior to the study, one or more relapses within the year prior to the study or one or more new MS-related brain lesions, also known as Gd-enhancing lesions, detected on MRI within three months prior to the study. Brain scans were performed every four weeks from 10 to 26 weeks.

At the end of the study, people taking 0.05, 0.10, or 0.15 mg of ONO-4641 had 82 percent, 92 percent and 77 percent fewer Gd-enhancing brain lesions, respectively, compared to placebo.

TO read more about MS, please click on the above title.

To access the CDR Library catalog, please click on this link.

Tuesday, April 17, 2012

Girls May Have Built-In Autism Defenses

Disability Scoop (April 13, 2012)-Autism is nearly five times more common in boys than girls. Now, new research suggests that gender differences could be key to understanding how to treat the disorder.

An international team of scientists analyzing the genetic makeup of more than 1,600 people with autism has identified a gene known as SHANK1 that when mutated, may be responsible for triggering some cases of autism.

Most significantly, however, they found a single family where six individuals carried the gene alteration. The four male family members with the variance all had autism, while two women were unaffected by the developmental disorder despite having the mutation.

The findings reported online Thursday in The American Journal of Human Genetics may help explain why autism is more common in males than females and lead to treatment options, the researchers said.

“This study indicates that there may be a protective factor preventing these female carriers from developing ASD,” said Stephen Scherer of The Hospital for Sick Children in Toronto who was one of the study authors. “(This) protective factor may one day be used to prevent or treat the disorder.”
To read more about autism, please click on the above title.
To access the CDR Library catalog, please click on this link.

Family Connection of SC - Annual Benefit and Auction

image of FC of SC logo
Please join us for an Evening of Hopes & Dreams - a Gala and Auction to Benefit Family Connection of SC
Saturday, April 28
Chickawa Outdoor Center
Saluda River Club
Lexington, SC

The evening will feature a silent auction full of exciting vacation destinations, restaurant packages, one of kind artwork, show tickets, and much more!
Heavy hors d'oeuvres will be provided by The Blue Marlin!
The evening will include cocktails and dancing in addition to the great auction items and delicious food!

NOTE: To read more about the auction, view a list of auction items, or get a ticket, click on the title above.
NOTE: To access the Center for Disability Resources Library, click on this link.

Monday, April 16, 2012

Autism by the Numbers: Researchers Examine Impact of New Diagnostic Criteria

image of DS manuals
ScienceDaily (Apr. 10, 2012) — "Getting an autism diagnosis could be more difficult in 2013 when a revised diagnostic definition goes into effect. The proposed changes may affect the proportion of individuals who qualify for a diagnosis of autism spectrum disorder, according to a study by Yale Child Study Center researchers published in the April issue of the Journal of the American Academy of Child & Adolescent Psychiatry.
The proposed changes to the diagnostic definition will be published in the fifth edition of the American Psychiatric Association's (APA) "Diagnostic and Statistical Manual of Mental Disorders (DSM-5)."
"Given the potential implications of these findings for service eligibility, our findings offer important information for consideration by the task force finalizing DSM-5 diagnostic criteria," said Yale Child Study Center director Dr. Fred Volkmar, who conducted the study with colleagues Brian Reichow and James McPartland.
Volkmar and his team performed an analysis of symptoms observed in 933 individuals evaluated for autism in the field trial for DSM-4. They found that about 25 percent of those diagnosed with classic autism and 75 percent of those with Asperger's Syndrome or pervasive developmental disorder, not otherwise specified, would not meet the new criteria for autism. The study also suggests that higher-functioning individuals may be less likely to meet the new criteria than individuals with intellectual disabilities.
Volkmar cautioned that these findings reflect analyses of a single data set and that more information will be provided by upcoming field trials overseen by the APA. He stressed that it is critical to examine the impact of proposed criteria in both clinical and research settings."
NOTE: To read the entire article, click on the title above.
NOTE: To access the Center for Disability Resources Library, click on this link.

Friday, April 13, 2012

Study: Autism Can Be Diagnosed In Minutes

It often takes hours for a clinician to diagnose a child with autism, but a Harvard researcher now says it may be possible to complete an assessment that’s just as accurate within minutes.

Using a Web-based tool that relies on just seven questions and a short home video, Dennis Wall, a researcher at Harvard Medical School, says he can provide a near perfect assessment of whether or not a child has autism.

“We believe this approach will make it possible for more children to be accurately diagnosed during the early critical period when behavioral therapies are most effective,” Wall said.

In contrast, children are typically diagnosed through lengthy, clinical evaluations. One popular method known as the Autism Diagnostic Interview, Revised, relies on 93 questions.

The new method developed by Wall can cut diagnosis time by almost 95 percent, researchers said in a paper about the approach that was published Tuesday in the journal Nature Translational Psychiatry.

When tested against traditional methods in more than 1,000 cases, Wall says that his shortened diagnosis procedure achieved near perfect accuracy.

To read more about autism diagnosis, please click on the above title.

To access the CDR Library please click on this link.

Thursday, April 12, 2012

For High School Athlete With Down Syndrome, Age Is an Issue

NY Times (April 10, 2012) -Last New Year’s Eve, Eric Dompierre was at a party with his high school basketball teammates. At 12:30 a.m., he called his father, Dean Dompierre, to see if he could stay out for another hour. By 2 a.m., his father was good-naturedly dragging him home.

It was a typical night in the life of a teenager in Ishpeming, Mich., a small mining town of about 7,000 people in the state’s Upper Peninsula, exactly the sort of night that Dean Dompierre had always wanted for his son.

Eric Dompierre has Down syndrome, which led to his being held back in junior kindergarten and first grade. Now Dompierre is a junior at Ishpeming High School, doing well in school and navigating the tricky social hierarchy of the teenage world, in part because of his participation in basketball.

He may, however, be prohibited from playing his senior season because the Michigan High School Athletic Association bars anyone who is 19 as of Sept. 1 from participating in sports for that school year. Dompierre turned 19 in January.

“That’s one of the bigger things that I’m afraid he’s going to lose if he can’t be part of a team next year,” Dean Dompierre said, adding, “Just the fact that he’s not there doing what they’re doing is going to lose him some of that social interaction and social life.”

To read the entire article please click on the above title.

To access the CDR Library catalog, please click on this link.

Wednesday, April 11, 2012

Teaching Robot Helps Children to Use Wheelchair

ScienceDaily (Aug. 12, 2010) A robotic wheelchair is being developed that will help children learn to 'drive'. Researchers writing in BioMed Central's open access Journal of NeuroEngineering and Rehabilitation describe the testing of ROLY -- RObot-assisted Learning for Young drivers -- in a group of children without disabilities and one child with cerebral palsy.

Laura Marchal-Crespo, worked with a team of researchers at the University of California at Irvine, USA, to carry out the study. She said, "The conventional approach for powered wheelchair driver's training is expensive and labor-intense, typically requiring the hand-over-hand assistance of a skilled therapist. To lower the cost and improve accessibility to training, we have developed a robotic powered wheelchair system on which young children with a disability can safely develop driving skills at their own pace with minimum assistance."

The researcher's technique involves the trainee learning to chase a small robot along a line painted on the floor. The force feedback joystick used to steer the wheelchair can also give physical assistance to the driver, at a level appropriate to their ongoing performance. When caught, the robot performs a dance and the chair plays a little tune. The joystick haptic assistance was found to enhance learning in both the non-disabled children trained with haptic guidance and in the child with a severe motor impairment.

Speaking about the results, Marchal-Crespo said, "Ultimately, we envision creating a training experience that compares favorably with the fun children experience with the best amusement park rides, but that facilitates the development of driving skill."

To read more about ROLY please click on the title.

To access the CDR Library catalog, please click on this link.

Tuesday, April 10, 2012

Columbia Parkinson Support Group April 15 2012 Meeting Reminder

Our April 15th meeting is very special --- one that you do not want to miss! We are having 5 Parkinson's specialists serving on an Open Forum panel; where meeting attendees can ask the doctors questions about Parkinson's disease. We encourage you to send us your questions ahead of time. We will not reveal your personal information (e.g., email, name, etc.).

Please see attached PDF document for more information about our April 15, 2012 meeting and how to submit your questions ahead of time. If you have difficulty reading this PDF document, please do not hesitate to contact us.

Our meetings are free!

Bring Guests: Please don't forget, we always welcome any guests to come with you. The more your family, friends, neighbors, business associates, or anyone who has an interest in Parkinson's disease can learn about Parkinson's disease, the more support they can provide. We always welcome students from our universities and colleges!

To Contact Us: Please call us between the hours of 9:00 a.m. until 8:00 p.m. Eastern Standard Time Zone and leave a message on our answering machines -or- send us email

Dottie Gantt, President - Email: - Telephone: 803-604-0061

Carol Baker, Vice President - Email: - Telephone 803-781-6193

We look forward to seeing you at the April 15, 2012 meeting or any of our meetings!

“Every PD patient is unique and everything about his or her disease

is specific to him or her and ONLY to him or her. PD has only one time - NOW,

the present. The previous hours do not forecast how you are going to feel.

The only thing that is predictable about this disease is its unpredictability.”

~~Written by Rick Kramer and Margaret Tuchman~~

To read more about the meeting, please click on the above title.
To Access the CDR Library catalog, please click on this link.

Monday, April 09, 2012

Young man with autism appeals to Obama

image of cap
FoxNews - "At 18 months old, Billy Pagoni was diagnosed with severe autism. The disorder was so disabling, he had trouble speaking.
Today, he’s 20 years old, about to graduate from high school in Naples, Fla., and wants more than anything to go to college. But, so far, every school he and his mother have contacted have told them there is no program available for his specialized needs.
With seemingly no opportunities available for him, Billy has made a public plea to President Obama to help him enroll into a college or university and continue his education.
“Dear President Obama, my name is Billy Pagoni,” Billy implored on a video posted on Facebook. “I want to be a baker. I am a great student. I never miss a day of school. I get A’s on my report card. Please, can you help me go to college? I am an American. I am autistic.”
According to the latest figures from the Centers for Disease Control and Prevention, one in 88 children in the U.S. have been identified with an autism spectrum disorder (ASD). When Billy was first diagnosed, nearly 18 years ago, the rate was two in 10,000.
Now, with the disorder so widely recognized, doctors, parents and other autism experts are pushing for early intervention programs more than ever before. Last week, applied behavioral analysis was officially recognized by a federal judge as a proven method, rather than an experimental one, to help autistic children with learning and development.
ABA uses techniques such as positive reinforcement to increase useful learning behaviors and decrease behaviors that may harm or interfere with learning. In Florida, Medicaid must now cover the treatment for children with autism, following the federal judge’s ruling.

NOTE: To read the entire article, click on the title above.
NOTE: To access the Center for Disability Resources Library, click on this link.

Friday, April 06, 2012

Big Advance Against Cystic Fibrosis: Stem Cell Researchers Create Lung Surface Tissue in a Dish

image of Petri dish
ScienceDaily (Apr. 5, 2012) — "Harvard stem cell researchers at Massachusetts General Hospital (MGH) have taken a critical step in making possible the discovery in the relatively near future of a drug to control cystic fibrosis (CF), a fatal lung disease that claims about 500 lives each year, with 1,000 new cases diagnosed annually.
Beginning with the skin cells of patients with CF, Jayaraj Rajagopal, MD, and colleagues first created induced pluripotent stem (iPS) cells, and then used those cells to create human disease-specific functioning lung epithelium, the tissue that lines the airways and is the site of the most lethal aspect of CF, where the genes cause irreversible lung disease and inexorable respiratory failure.
That tissue, which researchers now can grow in unlimited quantities in the laboratory, contains the delta-508 mutation, the gene responsible for about 70 percent of all CF cases and 90 percent of the ones in the United States. The tissue also contains the G551D mutation, a gene that is involved in about 2 percent of CF cases and the one cause of the disease for which there is now a drug.
The work is featured on the cover of this month's Cell Stem Cell journal. Postdoctoral fellow Hongmei Mou, PhD, is first author on the paper, and Rajagopal is the senior author.
Mou credits learning the underlying developmental biology in mice as the key to making tremendous progress in only two years. "I was able to apply these lessons to the iPS cell systems," she said. "I was pleasantly surprised the research went so fast, and it makes me excited to think important things are within reach. It opens up the door to identifying new small molecules [drugs] to treat lung disease."
NOTE: To read the entire article, click on the title above.
NOTE: To access the Center for Disability Resources Library, click on this link.

Thursday, April 05, 2012

Gene studies begin to unravel autism puzzle

Reuters (Apr. 4, 2012)- A sweeping study of hundreds of families with autism has found that spontaneous mutations can occur in a parent's sperm or egg cells that increase a child's risk for autism, and fathers are four times more likely than mothers to pass these mutations on to their children, researchers said on Wednesday.

The results of three new studies, published in the journal Nature, suggest mutations in parts of genes that code for proteins - called the exome - play a significant role in autism.

And while these genetic mistakes can occur across the genetic code, and many are harmless, they can cause big problems when they occur in parts of the genome needed for brain development. One of the three teams found these glitches may result in a five to 20 times higher risk of developing autism.

"These results confirm that it's not the size of the genetic anomaly that confers risk, but its location," said Dr. Thomas Insel, director of the National Institute of Mental Health, one of the National Institutes of Health, which funded one of the studies.

Among the other findings, the teams - led by Mark Daly of the Broad Institute at Harvard and Massachusetts Institute of Technology, Dr. Matthew State of Yale University and Evan Eichler of the University of Washington in Seattle - identified several hundred new suspect genes that could eventually lead to new targets for autism treatments.

Many of the researchers were part of the Autism Sequencing Collaborative, the largest effort of its kind to use advanced gene sequencing technology to identify the genetic underpinnings of autism.

Autism encompasses a wide spectrum of disorders, ranging from profound inability to communicate and mental retardation to relatively mild symptoms, as in Asperger's syndrome.

In the United States, an estimated 1 in 88 children have autism, according to the latest figures from the U.S. Centers for Disease Control and Prevention, and while scientists believe genetics account for 80 to 90 percent of the risk for developing autism, most cases of autism cannot be traced to a known inherited cause.

To read more about the study, please click on the above title.

To access the CDR Library catalog, please click on this link.

Tuesday, April 03, 2012

Service + Learning = A Winning Course

When preparing to teach their first Information Literacy course, Amy Edwards and Andrea Jarratt approached the task in an unusual way: They met with the S.C. Autism Society. The two reference librarians in USC's Thomas Cooper Library wanted to add a service component to the course, and they believed that the society could benefit from their pilot project.

The result of combining information literacy with a service project is a classroom full of students who are learning how to do research and help others at the same time.

“We are working with the Autism Society to develop an online manual to be used by parents of autistic children to describe service points and resources within the state,” Edwards said.

“We met with the Autism Society first to get the project started,” Edwards said. “The Libraries’ IT department built a form for us, and students are filling out the forms, then the information will be put on a database. We are handing all the information over to the Autism Society when complete. Everything we developed was with an eye toward giving it over to the S.C. Autism Society.”

A manual on the national level exists, but the South Carolina resource section isn’t strong, Jarratt said. She believed that the students could create a more comprehensive one.

“We want to teach information literacy as a lifelong skill,” said Jarratt. “We want students to know that these information literacy skills apply to your work, your personal life, your volunteer work.”
To read more about this topic, please click on the above title.
To access the CDR Library catalog, please click this link.