Posts Tagged: child

Dr. Elizabeth Berry-Kravis has spent much of her career focused on Fragile X, a genetic condition involving a mutation on the X chromosome that causes cognitive disabilities, behavioral issues and other problems.

New medications and therapeutic interventions have revolutionized life for people with the syndrome over the past 20 years, but Berry-Kravis, who runs the Fragile X Clinic and Research Program at Rush University in Chicago, said the most exciting discoveries are being explored now.

She was in Houston recently for a meeting of the Fragile X Clinical and Research Consortium at Texas Children's Hospital and spoke with Chronicle reporter Jeannie Kever.

Q. Tell me a little about Fragile X. How many people does it affect, and how does it manifest?

A. The description everyone uses is, it's the most common inherited form of intellectual disability. It's also the most common known genetic cause of autism. Children will seem pretty normal as young babies, but then they'll present to their pediatrician with a delay in walking or acquiring other motor milestones. A delay in talking is common. They'll have ongoing learning difficulties.

In elementary school, most of the guys with Fragile X will be in special education and have occupational therapy, speech therapy. Fragile X patients have a lot of behavioral difficulties, hyperactivity, problems paying attention, sometimes more aggressive behaviors.

It occurs in about 1 in 4,000 people. The gene that causes Fragile X is on the X chromosome. Men have only one copy of the X chromosome; girls have two. In girls, the normal gene on the other X chromosome tends to make the condition milder.

Q. What are researchers looking at?

A. The research that is particularly exciting, we have a mouse that has Fragile X. The mouse brain looks very similar to the human brain (of someone with Fragile X), so we can study the mechanisms of disease in the mouse.

Now we are working on treatments to target those pathways … to try to improve the brain cell connections. We can show that certain agents actually work in the mouse to impact different behaviors.

Some of those are being translated into humans. Now, if a patient has attention problems, we would treat it with medicine. But these new medications are targeted to the actual (behavior-causing) mechanisms.

Q. Is that a new approach?

A. It hasn't been done before in a developmental disorder, so Fragile X has become very hot in the research world. What's happening here will become a model for developing treatments for Down syndrome and autism.

Currently, three drugs are in clinical trials. We don't know really how well the drugs are going to work in people yet. We're very hopeful, but we have to remind ourselves the human is not the mouse.

If these drugs do produce improvements, and particularly if they produce cognitive improvements, which has never been done, it would be pretty earth-shaking.

Q. What does that mean for people with Fragile X and their families?

A. In the past, patients with Fragile X were very difficult. They couldn't be handled in the schools. There weren't good medications to help with their symptoms. They would be excluded from society.

They also tended to acquire very few academic skills, because people believed they weren't teachable. Now we've seen a revolution in teaching these patients. Even without the new drugs, the advances in the past 10 or 20 years about early intervention, molding education to the child … has made a big improvement.

With the advance of behavioral drugs, we can manage the behavior with medications and therapy and educational strategies. More of my patients now are getting out of high school and getting into a job.

If we could treat the biology at least a little bit with these new medications, we would see an added bonus.

jeannie.kever@chron.com

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Research helps demystify a genetic disorder

New toys are looking to capitalize on the high-tech market with unique takes on the iPad and Android devices. YNN’s Adam Balkin filed the following report.

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No matter how cool a new toy is, oftentimes a child would likely still pick up a device like an iPad or iPod Touch if given the choice. So it's no wonder so many developers at the American International Toy Fair are using devices like iPads or iPod Touches as part of their new toys.

Mattel is launching a new line of what it's calling Apptivity Toys, physical toys you hold in your hand that interact somehow with companion apps.

“Every toy is unique and designed for the brand for the game, so whether it's Barbie, where you're unlocking potentially parts of a closet, or Hot Wheels, where it's a challenge or a race or a quest or accumulate points and unlock things,” says Chuck Scothon of Mattel.

Out this fall, they range from about $10 to $20 apiece.

The $50 TeeGee out this summer is a more traditional toy, but where it breaks from tradition, you stick an iPhone or iPod Touch in its back and it becomes the brains of the monkey, so to speak.

“You're able to download age appropriate apps, so as your child gets older, you can evolve the experience for your child and you don't have to buy other toys. You can sing songs with TeeGee, arithmetic, Spanish, English, grammar,” says Christopher Ahn of TeeGee.

Or finally, if it's just the actual tablet or smartphone your kids want but you don't want to give them yours, the Kurio is a fully functioning Android tablet for kids.

The only thing that really makes it different from other Android tablets on the market is that parents can pretty much control every single thing their kids do on it. Parents set up profiles for up to eight users and then each user gets certain rights. For starters, parents can determine what types of websites can be visited.

“We have an online service that will everyday update inappropriate sites for kids and families, and by category, you can determine based on your own value system which categories are appropriate for your child,” says Eric Levin of TechnoSource.

You can also designate which user can access which apps. Kurio is out early summer for about $200.

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Tech Beat: Toy makers give new products longevity through apps

SAN BRUNO, Calif., Feb. 16, 2012 /PRNewswire/ – Cord Blood Registry (CBR) is the exclusive partner for a growing number of clinical researchers focusing on the use of a child's own cord blood stem cells to help treat pediatric brain injury and acquired hearing loss. To ensure consistency in cord blood stem cell processing, storage and release for infusion, three separate trials have included CBR in their FDA-authorized protocol—including two at the University of Texas Health Science Center at Houston (UTHealth) working in partnership with Children's Memorial Hermann Hospital, and a third at Georgia Health Sciences University, home of the Medical College of Georgia (MCG). This makes CBR the only family stem cell bank pairing researchers with prospective patients for these studies. 

(Logo: http://photos.prnewswire.com/prnh/20120216/AQ54476LOGO)

“Partnering with a series of specialists who want to research the use of a child's own newborn blood stem cells on a variety of disease states allows CBR to help advance medical research for regenerative therapies by connecting the child whose family banked with CBR to appropriate researchers,” said Heather Brown, MS, CGC, Vice President of Scientific & Medical Affairs at Cord Blood Registry.  ”The pediatric specialists from UTHealth, Children's Memorial Hermann Hospital, and Georgia Health Sciences University are at the forefront of stem cell research as they evaluate cord blood stem cells' ability to help facilitate the healing process after damage to nerves and tissue.”

Hearing Loss and Traumatic Brain Injury Clinical Trials Break New Ground

Sensorineural hearing loss affects approximately 6 per 1,000 children by 18 years of age, with 9 percent resulting from acquired causes such as viral infection and head injury.(1,2,3)  The Principal Investigator of the hearing loss study is Samer Fakhri, M.D., surgeon at Memorial Hermann-Texas Medical Center and associate professor and program director in the Department of Otorhinolaryngology – Head & Neck Surgery at UTHealth.  He is joined by James Baumgartner, M.D., sponsor of the study and guest research collaborator for this first-of-its-kind FDA-regulated, Phase 1 safety study of the use of cord blood stem cells to treat children with acquired hearing loss. The trial follows evidence from published studies in animals that cord blood treatment can repair damaged organs in the inner ear. Clients of CBR who have sustained a post-birth hearing loss and are 6 weeks to 2 years old may be eligible for the year-long study. “The window of opportunity to foster normal language development is limited,” said James Baumgartner, M.D.  ”This is the first study of its kind with the potential to actually restore hearing in children and allow for more normal speech and language development.”

Although the neurologic outcome for nearly all types of brain injury (with the exception of abuse) is better for children than adults,(4,5) trauma is the leading cause of death in children,(6) and the majority of the deaths are attributed to head injury.(7) Distinguished professor of pediatric surgery and pediatrics at UTHealth, Charles S. Cox, M.D. launched an innovative study building on a growing portfolio of research using stem cell-based therapies for neurological damage. The study will enroll 10 children ages 18 months to 17 years who have umbilical cord blood banked with CBR and have suffered a traumatic brain injury (TBI) and are enrolled in the study within 6-18 months of sustaining the injury. Read more about the trial here.

“The reason we have become interested in cord blood cells is because of the possibility of autologous therapy, meaning using your own cells. And the preclinical models have demonstrated some really fascinating neurological preservation effects to really support these Phase 1 trials,” says Charles S. Cox, M.D., principle investigator of the trial. “There's anecdotal experience in other types of neurological injuries that reassures us in terms of the safety of the approach and there are some anecdotal hints at it being beneficial in certain types of brain injury.”

Georgia Health Sciences University (GHSU) Focuses on Cerebral Palsy

At the GHSU in Augusta, Dr. James Carroll, professor and chief of pediatric neurology, embarked on the first FDA-regulated clinical trial to determine whether an infusion of stem cells from a child's own umbilical cord blood can improve the quality of life for children with cerebral palsy. The study will include 40 children whose parents have stored their cord blood at CBR and meet inclusion criteria. 

“Using a child's own stem cells as a possible treatment is the safest form of stem cell transplantation because it carries virtually no threat of immune system rejection,” said Dr. Carroll. “Our focus on cerebral palsy breaks new ground in advancing therapies to change the course of these kinds of brain injury—a condition for which there is currently no cure.”

Cerebral palsy, caused by a brain injury or lack of oxygen in the brain before birth or during the first few years of life, can impair movement, learning, hearing, vision and cognitive skills. Two to three children in 1,000 are affected by it, according to the Centers for Disease Control.(8)

Cord Blood Stem Cell Infusions Move From the Lab to the Clinic

These multi-year studies are a first step to move promising pre-clinical or animal research of cord blood stem cells into clinical trials in patients. Through the CBR Center for Regenerative Medicine, CBR will continue to partner with physicians who are interested in advancing cellular therapies in regenerative applications.

“The benefits of cord blood stem cells being very young, easy to obtain, unspecialized cells which have had limited exposure to environmental toxins or infectious diseases and easy to store for long terms without any loss of function, make them an attractive source for cellular therapy researchers today,” adds Brown. “We are encouraged to see interest from such diverse researchers from neurosurgeons to endocrinologists and cardiac specialists.”

About CBR

CBR® (Cord Blood Registry®) is the world's largest and most experienced cord blood bank.  The company has consistently led the industry in technical innovations and supporting clinical trials. It safeguards more than 400,000 cord blood collections for individuals and their families. CBR was the first family bank accredited by AABB and the company's quality standards have been recognized through ISO 9001:2008 certification—the global business standard for quality. CBR has also released more client cord blood units for specific therapeutic use than any other family cord blood bank. Our research and development efforts are focused on helping the world's leading clinical researchers advance regenerative medical therapies. For more information, visit www.cordblood.com.

(1)  Bergstrom L, Hemenway WG, Downs MP. A high risk registry to find congenital deafness. Otolaryngol Clin North Am. 1977;4:369-399.
(2)  Billings KR, Kenna MA. Causes of pediatric sensorineural hearing loss: yesterday and today. Arch Otolaryngol Head Neck Surg. 1999 May;125(5):517-21.
(3)  Smith RJ, Bale JF Jr, White KR. Sensorineural hearing loss in children. Lancet. 2005;365(9462):879-890.
(4)  Faul M, Xu L, Wald MM, Coronado VG. Traumatic brain injury in the United States: emergency department visits, hospitalizations, and deaths. Atlanta (GA): Centers for Disease Control and Prevention, National Center for Injury Prevention and Control; 2010.
(5)  Schnitzer, Patricia, PH.D., “Prevention of Unintentional Childhood Injuries”, American Academy of Family Physicians, 2006.
(6)  Centers for Disease Control and Prevention, “10 Leading Causes of Death, United States, 1997-2007″, WISQARS, National Center for Health Statistics (NCHS), National Vital Statistics System
(7)  Marquez de la Plata, Hart et al, National Institutes of Health, “Impact of Age on Long-term Recovery From Traumatic Brain Injury”, Arch Phys Med Rehabilitation, May 2008.
(8)  Centers for Disease Control and Prevention, www.cdc.gov/Features/dsCerebralPalsy, accessed February 6, 2012

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Groundbreaking Clinical Trials Study Cord Blood Stem Cells to Help Treat Brain Injury and Hearing Loss

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New toys are looking to capitalize on the high-tech market with unique takes on the iPad and Android devices. NY1’s Adam Balkin filed the following report.

No matter how cool a new toy is, oftentimes a child would likely still pick up a device like an iPad or iPod Touch if given the choice. So it's no wonder so many developers at the American International Toy Fair are using devices like iPads or iPod Touches as part of their new toys.

Mattel is launching a new line of what it's calling Apptivity Toys, physical toys you hold in your hand that interact somehow with companion apps.

“Every toy is unique and designed for the brand for the game, so whether it's Barbie, where you're unlocking potentially parts of a closet, or Hot Wheels, where it's a challenge or a race or a quest or accumulate points and unlock things,” says Chuck Scothon of Mattel.

Out this fall, they range from about $10 to $20 apiece.

The $50 TeeGee out this summer is a more traditional toy, but where it breaks from tradition, you stick an iPhone or iPod Touch in its back and it becomes the brains of the monkey, so to speak.

“You're able to download age appropriate apps, so as your child gets older, you can evolve the experience for your child and you don't have to buy other toys. You can sing songs with TeeGee, arithmetic, Spanish, English, grammar,” says Christopher Ahn of TeeGee.

Or finally, if it's just the actual tablet or smartphone your kids want but you don't want to give them yours, the Kurio is a fully functioning Android tablet for kids.

The only thing that really makes it different from other Android tablets on the market is that parents can pretty much control every single thing their kids do on it. Parents set up profiles for up to eight users and then each user gets certain rights. For starters, parents can determine what types of websites can be visited.

“We have an online service that will everyday update inappropriate sites for kids and families, and by category, you can determine based on your own value system which categories are appropriate for your child,” says Eric Levin of TechnoSource.

You can also designate which user can access which apps. Kurio is out early summer for about $200.

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Toy Makers Give New Products Longevity Through Apps

IRVINE, Calif., Feb. 13, 2012 (GLOBE NEWSWIRE) — CombiMatrix Corporation (Nasdaq:CBMX – News), a molecular diagnostics company performing DNA-based testing services for cancer and developmental disorders, today announced that one of the nation's leading clinicians in the field of reproductive genetics has called for chromosomal microarray testing to replace karyotyping, the historic practice, as the standard of care for prenatal testing. CombiMatrix is one of the few independent companies that specialize in chromosomal microarray testing (CMA), the primary genetic test to evaluate newborns with birth defects but has not routinely been used for prenatal testing.

Ronald Wapner, M.D., director of Reproductive Genetics at New York-Presbyterian Hospital/Columbia University Medical Center, Vice Chairman of research and Professor of Obstetrics and Gynecology at Columbia College of Physicians and Surgeons, led the first head-to-head study comparing CMA to karyotyping in 4,400 patients at 34 medical centers nationwide. Based on the data, Dr. Wapner and his collaborators concluded that testing of the fetal chromosomes using CMA provides a significantly increased detection rate about potential disorders than karyotyping.

The study was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development – part of the National Institutes of Health.

“Why would anyone want to continue to use the standard method, which gives only part of the answer?” Dr. Wapner said in a statement published by New York-Presbyterian and Columbia University Medical Center. He added that the transition to the new technology should be controlled, as physicians and patients will need to be better educated about the use of CMA before it can be fully adopted into clinical practice.

CMA provides “significantly more clinically relevant information” and can identify chromosomal disorders associated with such things as intellectual disability, birth defects or autism spectrum disorders that are missed by karyotyping, Dr. Wapner concluded.

Judd Jessup, President and CEO of CombiMatrix, said, “Dr. Wapner's seminal, nationwide study demonstrates conclusively that microarray testing can allow expectant parents to better understand the potential impacts of genetics on their child than the standard karyotyping test that has been used for decades. For parents, this test can take much of the guess work out of child rearing and could eventually give parents and educators better tools for predicting and proactively addressing the impacts of many genetic conditions.”

Jessup continued, “We are grateful for the commitment of the researchers and their sponsors who made this exhaustive study possible and view this and other ongoing research activity in both developmental and cancer diagnostics as affirmation that our aCGH Microarray technology is rapidly becoming a critical valuable tool across several medical specialties.”

Dr. Wapner presented the study data at the annual meeting of the Society for Maternal-Fetal Medicine on Thursday, Feb. 9. The study abstract has been published by the American Journal of Obstetrics and Gynecology, and a comprehensive paper detailing the study's many findings will be submitted for publication in as little as three months.

About CombiMatrix Corporation

CombiMatrix Corporation, through its wholly owned subsidiary, CombiMatrix Diagnostics (“CMDX”), is a CAP/CLIA certified molecular diagnostics laboratory offering comprehensive profiling of chromosomes and genes for both oncology and pre- and postnatal developmental disorders. CombiMatrix Diagnostics offers a comprehensive and proprietary analysis of cancer tumors at the DNA, or molecular level. CombiMatrix was the first commercial clinical laboratory in the United States to make comprehensive DNA-based genomic analysis of solid tumors, including breast, colon, lung, prostate and brain tumors, available to oncology patients and medical professionals. CombiMatrix also offers pre- and postnatal testing services for the detection of abnormalities of genes at the DNA level beyond what can be identified through traditional technologies. Additional information about CombiMatrix Corporation is available at www.combimatrix.com. Additional information about CMDX is available at www.cmdiagnostics.com or by calling 1-800-710-0624.

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Author of Nationwide, NIH-Sponsored Study Endorses Microarray Testing as Preferred Standard of Care for Pre-Natal …

Public release date: 9-Feb-2012
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Contact: Gloria Chin
glc9010@nyp.org
212-305-5587
New York- Presbyterian Hospital/Columbia University Medical Center

NEW YORK — A nationwide, federally funded study has found that testing a developing fetus' DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard method of prenatal testing, which is to visually examine the chromosomes (karyotyping). The results of the 4,000-plus-participant clinical study are being presented at the 32nd annual meeting of the Society for Maternal-Fetal Medicine in Dallas on Feb. 9, 2012. The study was recently published in the American Journal of Obstetrics & Gynecology.

In women having routine prenatal diagnosis, CMA detected additional genetic abnormalities in about 1 out of every 70 fetal samples that had a normal karyotype. When a birth defect was imaged by ultrasound, CMA found additional important genetic information in 6 percent of cases. These results suggest that CMA may soon replace karyotyping for prenatal testing, says Dr. Ronald Wapner, director of Reproductive Genetics at NewYork-Presbyterian Hospital/Columbia University Medical Center and vice chairman for research and professor of obstetrics and gynecology at Columbia University College of Physicians and Surgeons.

“Why would anyone want to continue to use the standard method, which gives only part of the answer?” says Dr. Wapner, who led the 34-center study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. “However, we will have to carefully transition this information into clinical practice ? to educate physicians and patients, develop guidelines for its use, and learn how to best use it to improve care.”

CMA is not routinely used for prenatal testing but has become the primary genetic test to evaluate newborns with birth defects, as well as infants and young children with developmental delays.

Dr. Wapner describes the observed difference in accuracy between the two tests this way: “With karyotyping, we can see only when pieces of the genome of about 5 million base pairs are missing from a chromosome. With CMA, we can see missing pieces of fewer than 100,000 base pairs.”

CMA is based on a method that determines whether the right amount of genetic material is present at numerous locations in the fetus' genome.

This study was the first to examine the two methods in a blinded head-to-head comparison. Fetal samples were collected from the amniotic fluid or placenta of 4,450 participants. “These were women who were seeking prenatal testing for the usual reasons, which could be age, increased risk of inheritable disease, or a structural abnormality in the fetus,” Dr. Wapner says.

Each participant's sample was split and sent, in a blinded fashion, to one of four laboratories that perform CMA ? NewYork-Presbyterian Hospital/Columbia University Medical Center, Emory University, Baylor College of Medicine or Signature Genetics. The other portion of the sample was sent to Genzyme Genetics for standard karyotyping.

Results show that CMA and karyotyping were equally effective at identifying chromosomal abnormalities such as the duplicate chromosomes that cause Down syndrome and Trisomy 18. But CMA provided significantly more clinically relevant information in two situations.

“In 6 percent of the cases where there's a structural abnormality of the fetus but karyotyping is normal, CMA will provide additional significant information,” Dr. Wapner says. “And in about 1.7 percent of cases where the procedure was done because of the mother's age or similar concerns and the chromosomes were normal, CMA reveals additional information of concern.”

Both tests offer information on conditions that can be life-threatening to a newborn baby or that can signal a possible health threat that might be treatable. “We are looking for the same thing in both tests,” Dr. Wapner says. “But we find more abnormalities with CMA.”

CMA can identify at least 150 known conditions and tell us exactly what the problem is and what it means for a child. Although karyotyping provides the same kind of information, CMA will likely provide more information on other potential disorders that might not otherwise be picked up such as intellectual disability or autism.

“It does not always mean that a child will necessarily develop these disorders, because many are due to multiple influences,” Dr. Wapner says. “But it will help parents because they can be on the lookout for a particular disorder and have a treatment plan in place. I believe it is important to give parents as much information as they need about their child.”

###

Agilent and Affymetrix provided microarrays for this study.

Dr. Wapner declares no financial or other conflict of interest.

NewYork-Presbyterian Hospital/Columbia University Medical Center

NewYork-Presbyterian Hospital/Columbia University Medical Center, located in New York City, is one of the leading academic medical centers in the world, comprising the teaching hospital NewYork-Presbyterian and its academic partner, Columbia University College of Physicians and Surgeons. NewYork-Presbyterian/Columbia provides state-of-the-art inpatient, ambulatory and preventive care in all areas of medicine, and is committed to excellence in patient care, research, education and community service. NewYork-Presbyterian Hospital also comprises NewYork-Presbyterian Hospital/Weill Cornell Medical Center, NewYork-Presbyterian/Morgan Stanley Children's Hospital, NewYork-Presbyterian Hospital/Westchester Division and NewYork-Presbyterian/The Allen Hospital. NewYork-Presbyterian is the #1 hospital in the New York metropolitan area and is consistently ranked among the best academic medical institutions in the nation, according to U.S.News & World Report. For more information, visit http://www.nyp.org.

Columbia University Medical Center

Columbia University Medical Center provides international leadership in basic, pre-clinical, and clinical research; in medical and health sciences education; and in patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Established in 1767, Columbia's College of Physicians and Surgeons was the first institution in the country to grant the M.D. degree and is among the most selective medical schools in the country. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest in the United States. For more information, please visit http://www.cumc.columbia.edu.

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New prenatal genetic test is much more powerful at detecting fetal abnormalities

Washington, Feb 10 (ANI): Testing a developing foetus' DNA through chromosomal microarray (CMA) provides more information about potential disorders than the standard method of prenatal testing, which is to visually examine the chromosomes (karyotyping), according to a new study.

The results of the 4,000-plus-participant clinical study are being presented at the 32nd annual meeting of the Society for Maternal-Foetal Medicine in Dallas.

In women having routine prenatal diagnosis, CMA detected additional genetic abnormalities in about 1 out of every 70 foetal samples that had a normal karyotype. When a birth defect was imaged by ultrasound, CMA found additional important genetic information in 6 percent of cases.

These results suggest that CMA may soon replace karyotyping for prenatal testing, says Dr Ronald Wapner, director of Reproductive Genetics at NewYork-Presbyterian Hospital/Columbia University Medical Center and vice chairman for research and professor of obstetrics and gynaecology at Columbia University College of Physicians and Surgeons.

“Why would anyone want to continue to use the standard method, which gives only part of the answer?” says Dr Wapner, who led the 34-center study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

“However, we will have to carefully transition this information into clinical practice – to educate physicians and patients, develop guidelines for its use, and learn how to best use it to improve care,” he added.

CMA is not routinely used for prenatal testing but has become the primary genetic test to evaluate newborns with birth defects, as well as infants and young children with developmental delays.

“With karyotyping, we can see only when pieces of the genome of about 5 million base pairs are missing from a chromosome. With CMA, we can see missing pieces of fewer than 100,000 base pairs,” Dr Wapner said.

CMA is based on a method that determines whether the right amount of genetic material is present at numerous locations in the foetus' genome.

The study was recently published in the American Journal of Obstetrics and Gynecology. (ANI)

Read the rest here:
New prenatal genetic test 'much more powerful at detecting foetal abnormalities'

New Prenatal Genetic Test Is Much More Powerful Than Standard Chromosome Test at Detecting Fetal Abnormalities

While Both Tests Look for the Same Thing, Chromosomal Microarray Finds More, Says NewYork-Presbyterian/Columbia Researcher Who Led Nationwide Study

Newswise — NEW YORK (Feb. 9, 2012) — A nationwide, federally funded study has found that testing a developing fetus’ DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard method of prenatal testing, which is to visually examine the chromosomes (karyotyping). The results of the 4,000-plus-participant clinical study are being presented at the 32nd annual meeting of the Society for Maternal-Fetal Medicine in Dallas on Feb. 9, 2012. The study was recently published in the American Journal of Obstetrics & Gynecology.

In women having routine prenatal diagnosis, CMA detected additional genetic abnormalities in about 1 out of every 70 fetal samples that had a normal karyotype. When a birth defect was imaged by ultrasound, CMA found additional important genetic information in 6 percent of cases. These results suggest that CMA may soon replace karyotyping for prenatal testing, says Dr. Ronald Wapner, director of Reproductive Genetics at NewYork-Presbyterian Hospital/Columbia University Medical Center and vice chairman for research and professor of obstetrics and gynecology at Columbia University College of Physicians and Surgeons.

“Why would anyone want to continue to use the standard method, which gives only part of the answer?” says Dr. Wapner, who led the 34-center study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. “However, we will have to carefully transition this information into clinical practice — to educate physicians and patients, develop guidelines for its use, and learn how to best use it to improve care.”

CMA is not routinely used for prenatal testing but has become the primary genetic test to evaluate newborns with birth defects, as well as infants and young children with developmental delays.

Dr. Wapner describes the observed difference in accuracy between the two tests this way: “With karyotyping, we can see only when pieces of the genome of about 5 million base pairs are missing from a chromosome. With CMA, we can see missing pieces of fewer than 100,000 base pairs.”

CMA is based on a method that determines whether the right amount of genetic material is present at numerous locations in the fetus’ genome.

This study was the first to examine the two methods in a blinded head-to-head comparison. Fetal samples were collected from the amniotic fluid or placenta of 4,450 participants. “These were women who were seeking prenatal testing for the usual reasons, which could be age, increased risk of inheritable disease, or a structural abnormality in the fetus,” Dr. Wapner says.

Each participant’s sample was split and sent, in a blinded fashion, to one of four laboratories that perform CMA — NewYork-Presbyterian Hospital/Columbia University Medical Center, Emory University, Baylor College of Medicine or Signature Genetics. The other portion of the sample was sent to Genzyme Genetics for standard karyotyping.

Results show that CMA and karyotyping were equally effective at identifying chromosomal abnormalities such as the duplicate chromosomes that cause Down syndrome and Trisomy 18. But CMA provided significantly more clinically relevant information in two situations.

“In 6 percent of the cases where there’s a structural abnormality of the fetus but karyotyping is normal, CMA will provide additional significant information,” Dr. Wapner says. “And in about 1.7 percent of cases where the procedure was done because of the mother’s age or similar concerns and the chromosomes were normal, CMA reveals additional information of concern.”

Both tests offer information on conditions that can be life-threatening to a newborn baby or that can signal a possible health threat that might be treatable. “We are looking for the same thing in both tests,” Dr. Wapner says. “But we find more abnormalities with CMA.”

CMA can identify at least 150 known conditions and tell us exactly what the problem is and what it means for a child. Although karyotyping provides the same kind of information, CMA will likely provide more information on other potential disorders that might not otherwise be picked up such as intellectual disability or autism.

“It does not always mean that a child will necessarily develop these disorders, because many are due to multiple influences,” Dr. Wapner says. “But it will help parents because they can be on the lookout for a particular disorder and have a treatment plan in place. I believe it is important to give parents as much information as they need about their child.”

Agilent and Affymetrics provided microarrays for this study.

Dr. Wapner declares no financial or other conflict of interest.

NewYork-Presbyterian Hospital/Columbia University Medical Center

NewYork-Presbyterian Hospital/Columbia University Medical Center, located in New York City, is one of the leading academic medical centers in the world, comprising the teaching hospital NewYork-Presbyterian and its academic partner, Columbia University College of Physicians and Surgeons. NewYork-Presbyterian/Columbia provides state-of-the-art inpatient, ambulatory and preventive care in all areas of medicine, and is committed to excellence in patient care, research, education and community service. NewYork-Presbyterian Hospital also comprises NewYork-Presbyterian Hospital/Weill Cornell Medical Center, NewYork-Presbyterian/Morgan Stanley Children’s Hospital, NewYork-Presbyterian Hospital/Westchester Division and NewYork-Presbyterian/The Allen Hospital. NewYork-Presbyterian is the #1 hospital in the New York metropolitan area and is consistently ranked among the best academic medical institutions in the nation, according to U.S.News & World Report. For more information, visit www.nyp.org.

Columbia University Medical Center

Columbia University Medical Center provides international leadership in basic, pre-clinical, and clinical research; in medical and health sciences education; and in patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Established in 1767, Columbia's College of Physicians and Surgeons was the first institution in the country to grant the M.D. degree and is among the most selective medical schools in the country. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest in the United States. For more information, please visit www.cumc.columbia.edu.

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New Prenatal Genetic Test Is Much More Powerful Than Standard Chromosome Test at Detecting Fetal Abnormalities

Four years ago, an experimental gene therapy improved vision in blind patients treated in one eye. Now sight has been restored to the second eye of the previously treated individuals, researchers reported today.

Three adults with a form of Leber congenital amaurosis, a rare inherited disease of the retina that appears at birth and can progress to total blindness, now have vision in dim light and can distinguish faces, researchers said. The results are published today in the journal Science Translational Medicine.

The procedure, which uses a virus to deliver a gene to offset a defective one, didn’t cause an immune response, an effect that has hampered previous gene therapy attempts, said Jean Bennett, a professor of ophthalmology at the University of Pennsylvania and a lead author on the study. The second treatment also led to a surprise benefit of improving the previously treated eye, since the two eyes could now coordinate with each other in focusing on an object, researchers said.

“After the treatment, their vision is by no means 20/20, but it’s improved to the point where they can see the faces of their children, see the teacher at a school conference, or see their child hit a home run in a baseball game,” said Bennett, who is also a scientist at Children’s Hospital of Philadelphia, in a telephone interview.

The study was a follow-on to a clinical trial conducted at Children’s Hospital whose initial data were reported in 2008 and 2009. Twelve patients, including children, were treated with an injection into the eye that had the worst vision. Each had improvements.

Retina Disorders

Leber congenital amaurosis is a collection of disorders that lead to loss of cells in the retina in the first few decades of patients’ lives, the study said. The condition affects about 3,000 people in the U.S. One of the most-common forms, LCA2, is caused by a mutation in a gene linked to generation of a vitamin A derivative necessary for capturing light and stimulating vision. About 500 people have that form of LCA, Bennett said.

The researchers were concerned about repeating the treatment in patients’ other eye because they feared the initial therapy may have primed their immune systems to react against a second dose.

“We were concerned about the possibility that readministering might activate an immune response,” Bennett said. “Analogous to what you’d see in a vaccine, where delivering something back into the body would develop an immune response, you go back a second time and it might limit the effectiveness and cause damage in the eye that had initially received the injection.”

Obstacle Course

The study, done in three adult patients before the therapy would be administered to the rest of the 12 participants in the initial trial, showed no serious side effects. The patients got the second treatment 1.7 to 3.4 years after the first. The patients’ vision in dim light improved, and two of them were able to find their way through an obstacle course they previously hadn’t been able to navigate.

The trial was funded in part by Children’s Hospital of Philadelphia. The researchers have started treating the rest of the patients in the initial part of the study, and are planning a trial for later this year in the third and final phase of tests generally required for regulatory approval, Bennett said. The program is an academic one, without involvement from any companies.

The treatment doesn’t make patients’ vision perfect. “They can’t read books or drive a car,” Bennett said. “But the improvements mean a huge amount to somebody who is blind.”

To contact the reporter on this story: Meg Tirrell in New York at mtirrell@bloomberg.net

To contact the editor responsible for this story: Reg Gale at rgale5@bloomberg.net

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Blindness-Busting Gene Therapy Works in Second Eye, U.S. Researchers Say

13-09-2011 10:55 You’ve seen vets care for your dog or cat, have you seen them care for piglets, calves, pigs and cows? We started with farm vet stories, next we’ll post stories of vets caring for dogs, cats, and horses. Subscribe to follow our new videos. And please Share, Comment, etc. You can contact us at veterinariansoncall@gmail.com. Those appearing were not paid to participate and the opinions expressed are theirs. Commenting Guidelines: Our channel welcomes open and dynamic comments on our content. Please be respectful for fans and followers of all ages including our child-age viewers, and follow YouTube’s Community Guidelines www.youtube.com We moderate comments against offenders of these guidelines and to correct factual errors, remove spam, remove product claims, remove advertising or ad links, remove violations of intellectual property or law, and remove comments that are abusive, profane, or defamatory toward a person, entity or belief, and to flag and block repeat offenders. If you have Pfizer product-related questions or wish to report a serious reaction associated with a Pfizer Animal Health product, including a human exposure, please call the company’s Veterinary Medical Information Product Support Team at 800-366-5288. We will respond directly to any comments related to adverse events, and the comments will be not be posted.

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Dr. Supple, city girl and Notre Dame grad turned pig vet – Video

Your child's tooth could be the key that unlocks new treatments for serious diseases. It may be hard to believe, but research seems to back it up.

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Could teeth hold potential cure?

TUESDAY, Jan. 31 (HealthDay News) — A pre-pregnancy diet high in animal fat increases the risk that moms-to-be will develop gestational diabetes, a new study says.

“Our findings indicate that women who reduce the proportion of animal fat and cholesterol in their diets before pregnancy may lower their risk for gestational diabetes during pregnancy,” senior author Dr. Cuilin Zhang, of the epidemiology branch at the U.S. National Institute of Child Health and Human Development, said in an NIH news release.

Researchers analyzed data from more than 13,000 women in the U.S. Nurses' Health Study II. The women were ages 22 to 45 when they enrolled in the study and provided information every few years about their health and lifestyle habits, such as the kinds of foods they ate.

About 6 percent said they had been diagnosed with gestational diabetes, a form of diabetes that occurs during pregnancy. Gestational diabetes increases the risk for certain pregnancy complications and health problems in newborns.

Women who consumed the most animal fat were nearly twice as likely to develop gestational diabetes as those who consumed the lowest amounts. Also, women who consumed the highest amounts of dietary cholesterol were 45 percent more likely to develop gestational diabetes than those who consumed the lowest amounts.

There was no increased risk of gestational diabetes among women whose diets were high in total fat or other kinds of fat, said the researchers at the NIH and Harvard University.

They also found that the increased risk for gestational diabetes associated with diets high in animal fat and cholesterol seemed to be independent of other dietary and non-dietary risk factors.

For example, exercise is known to reduce the risk of gestational diabetes. But among pregnant women who exercised, the risk of gestational diabetes was higher among those who consumed higher amounts of animal fat and cholesterol than those who consumed lower levels of those types of fat.

The researchers concluded that changing 5 percent of dietary calories from animal fat to plant-derived sources could reduce a woman's risk of gestational diabetes by 7 percent.

The study was published online Jan. 4 in the American Journal of Clinical Nutrition.

“This is the largest study to date of the effects of a pre-pregnancy diet on gestational diabetes,” first author Katherine Bowers of the NICHD said in the news release. “Additional research may lead to increased understanding of how a mother's diet before and during pregnancy influences her metabolism during pregnancy, which may have important implications for the baby's health at birth and later in life.”

While the study found an association between a high fat diet and gestational diabetes, it did not prove that such a diet causes the condition.

More information

The U.S. Agency for Healthcare Research and Quality has more about gestational diabetes.

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Fatty Diet Before Pregnancy Linked to Gestational Diabetes

By vaccinating against chickenpox you lessen the chance of shingles in later life.

PARENTS of newborns are being encouraged to have their children immunised for chickenpox after a report found more than 900 North Coast children seemed overdue.

Marianne Trent, immunisation co-ordinator for the Lismore Public Health Unit was so concerned at the apparent low uptake since vaccination became available in 2005, she sent out a questionnaire.

Following this, about 400 children have now had their immunisation confirmed, but a further 500 remain unprotected.

About 5% of respondents conscientiously objected to vaccination generally, Ms Trent was most concerned about a further 6% who planned to wait for their child to get the “natural disease”.

“We still hear about chickenpox parties which is a very unwise thing to do – you don't want your kids getting it because of the other risks,” she said.

“We don't get many deaths from chickenpox in Australia, because we have a good health system, but it's a very serious disease.

“Once you've had chickenpox you can get shingles, particularly in older people, which can cause blindness if you get it in the eyes – by vaccinating against chickenpox you lessen the chance of shingles in later life.

“It can make kids quite sick but if you get it as a young adult you can get very sick … there is the risk of things like encephalitis which can cause severe disease including the risk of brain damage.”

Originally posted here:
Vaccine can prevent blindness

Ada —  

A scholarship honoring Dr. Raniyah Ramadan, a promising
research scientist from Ada who passed away last July at age
34, has been established at East Central University.

The scholarship was established at the ECU Foundation Inc. by
the Ramadan family through the Dr. Raniyah Ramadan Foundation.
Her father, Dr. Tawfik Ramadan, provides campus health services
for ECU students, and her mother, Siham Ramadan, is an ECU
graduate. Three of her five siblings also are ECU graduates.

Recipients of the new scholarship will be ECU juniors or
seniors who plan a career in research or the medical
profession.

Raniyah Ramadan moved to New York in 2008 to pursue research in
neuro-opthalmology at Regeneron Pharmaceuticals. As a
postdoctoral scientist, she was admired and respected by her
colleagues.      

“She was such a brilliant young scientist with so much to offer
— a real pleasure to work with,” said her supervisor, Jingtai
Cao. “Bright, enthusiastic, always smiling and caring for
others, she was a lovely friend and a kind colleague to many
who had the pleasure of knowing her and working at her side.”

Rajeev Wudall, another colleague, added, “Her death is a huge
loss, not just for us, but the entire scientific world.”

After graduating from Ada High School, Raniyah Ramadan earned a
bachelor’s degree from the University of Oklahoma in 1998 and a
master’s degree in public health in 2000.

She was a graduate research assistant in biomedical sciences at
the OU Health Sciences Center in Oklahoma City from 2001 to
2007 where she researched the pathogenic mechanisms of
bacterial endophthalmitis. She authored and co-authored several
articles for academic journals while completing a doctorate in
neuroscience in 2007 at the Oklahoma Center for Neuroscience,
part of OU’s College of Medicine.

“Raniyah faced all research and educational challenges head on,
not relenting until she achieved her desired result,” said Dr.
Beverley Greenwood-Van Meerveld, director of the Oklahoma
Center for Neuroscience.

Upon graduation, Ramadan was awarded a prestigious
post-doctoral research fellowship in ophthalmology and visual
sciences at Case Western Reserve University in Cleveland, Ohio.
After completing the fellowship she moved to New York and
Regeneron Pharmaceuticals where she worked on ocular disease
models. She initiated the protocol for animal models of ocular
inflammatory diseases that affect about two million Americans
and also conducted the histology analysis for the company’s
uveitis models in rats and mice.

She was an active volunteer with the Junior League of Oklahoma
City and participated in the Boys and Girls Club Child Literacy
Placement, providing meals and activities before and after
school to inner city, underprivileged adolescents.

The Ramadan family established the Dr. Raniyah Ramadan
Foundation to support her favorite charities as well as
establish scholarships in the health sciences and promote
neuroscience research.

To contribute to the Raniyah Ramadan Scholarship at ECU,
contact the ECU Foundation Inc. at 580-559-5514.

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ECU scholarship honors Dr. Raniyah Ramadan

18-01-2012 03:45 Tonight on the Tuesday, January 17, 2012 edition of the Infowars Nightly News: • Alex interviews Infowars contributing writer and vaccine researcher Curt Linderman Sr. about the medical tyranny hoax that ceaseless continues in trying to trick the public into complying with “mandatory” vaccinations. In the latest episode, a Pennsylvanian doctor reported her patient to a state trooper, as well as Children and Youth Services Department, after the mother, Rachel Garmon, refused dangerous inoculations for her son.

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Medical Tyranny: Infowars Nightly News – Video

11-01-2012 15:51 If you missed the opportunity to bank your child’s cord blood, banking your child’s baby or wisdom teeth is an option worth considering! StemSave offers recovery, transport and cryopreservation of the valuable stem cells found in teeth.An easy adjunct to the extraction of any healthy tooth, (examples include: wisdom teeth, baby teeth, tooth extractions related to orthodontia) StemSaving is easy and is available through your Dentist. For more information on banking teeth stem cells for your family’s future health, visit www.stemsave.com or call 877-783-6728 (877-StemSave) today

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Ask the Doctors – Dental Stem Cell Banking – Video

18-12-2011 19:13 You’ve seen vets care for your dog or cat, have you seen them care for piglets, calves, pigs and cows?

Link:
Dr. Peck delivers a baby calf – Video

You’ve seen vets care for your dog or cat, have you seen them care for piglets, calves, pigs and cows? We started with farm vet stories, next we’ll post stories of vets caring for dogs, cats, and horses. Subscribe to follow our new videos

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Dr. Peck cares for baby calves on her family dairy farm – Video

www.ted.com At TEDMED, Sheila Nirenberg shows a bold way to create sight in people with certain kinds of blindness by hooking into the optic nerve and sending signals from a camera direct to the brain.TEDTalks is a daily video podcast of the best talks and performances from the TED Conference, where the world’s leading thinkers and doers give the talk of their lives in 18 minutes.

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Sheila Nirenberg: A prosthetic eye to treat blindness – Video

Biology stands on the brink of a shift in the understanding of inheritance.

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The Ghost in Your Genes – (BBC Horizon) – Video