Down Syndrome News and Research

Latest Down Syndrome News and Research

Children with 22q11.2 deletion syndrome may often be misdiagnosed to have autism

Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests.

18 Sep 2013

Elan enrolls first patient dosing in phase 2a study of ELND005 in Down syndrome

Elan Corporation, plc (NYSE: ELN) announced today the first patient dosing in a Phase 2a study of ELND005 in Down syndrome. Study ELND005-DS201 will evaluate the safety and pharmacokinetics of 2 doses of ELND005 and placebo in young adults with Down syndrome without dementia, and will also include select cognitive and behavioural measures.

5 Sep 2013

Clinical study to investigate effects of prenatal chromosomal abnormalities through microarray analysis

Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) found prenatally through microarray analysis.

22 Aug 2013

Parents use bibliotherapy as a tool to help kids facing social issues

A new study out of the University of Cincinnati not only finds that parents feel responsible for taking action when their children struggle with social issues, but also that parents are influenced by their own childhood memories when it comes to dealing with their kids problems.

12 Aug 2013

Risk for childhood cancer moderately increased among adolescents with major birth defects

A multistate study led by researchers at the University of Utah has revealed that the risk for childhood cancer is moderately increased among children and young adolescents with certain types of major birth defects.

12 Aug 2013

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

DASA Group and Natera today announced that DASA Group will begin offering Natera's non-invasive prenatal test Panorama for the detection of genetic syndromes common in the population, such as trisomy 21 (Down syndrome), trisomy 13 (Patau Syndrome ), trisomy 18 (Edwards syndrome) and monosomy X (Turner syndrome).

From Natera 8 Aug 2013

Verinata Health receives New York's Laboratory Permit for CLIA-certified verifi prenatal test

Illumina, Inc. (NASDAQ: ILMN) today announced that Verinata Health, an Illumina company, received the Clinical Laboratory Permit from the New York State Department of Health for its CLIA-certified, CAP-accredited laboratory.

2 Aug 2013

Researchers to study knowledge and satisfaction of women who choose DNA prenatal screening test

A recently available DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women is moving a step closer to use in the general pregnancy population.

From Natera 25 Jul 2013

State highlights: DOJ sues Fla. over keeping children in nursing homes

The U.S. Justice Department filed a lawsuit against Florida on Monday, accusing the state of unnecessarily institutionalizing about 200 disabled children in nursing homes and cutting services that would allow them to receive care at home (7/22).

24 Jul 2013

First Edition: July 23, 2013

Today's headlines include reports that the White House is enlisting celebrities to aid efforts to enroll young people in the health insurance plans that will kick in this fall as a result of the health law.

23 Jul 2013

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also known as Down syndrome, a genetic disorder characterized by cognitive impairment.

18 Jul 2013

Judge blocks new Wis. abortion law; Texas rallies draw thousands

After a hastily called hearing, a federal judge Monday put a 10-day freeze on a new state law requiring doctors who perform abortions to have hospital-admitting privileges. In a 19-page opinion issued Monday evening, U.S. District Judge William M. Conley cited a "troubling lack of justification" for the law and said he would stay enforcement of the admissions provision until July 18, a day after a more deliberate courtroom hearing scheduled before him next week. … Conley's ruling does not affect a separate provision of the new law requiring women to undergo an ultrasound before having an abortion (Stein, 7/9).

10 Jul 2013

Action Medical Research funds three new Research Training Fellowships

Action Medical Research, the UK-wide charity funding vital research to help sick and disabled babies and children, has today announced it is funding three new Research Training Fellowships worth more than £470,000.

9 Jul 2013

Consanguineous marriages and older mothers increase risk of birth anomalies in children

Marriage between first cousins can more than double the risk of giving birth to a baby with a congenital anomaly (eg, heart and lung defects, Down syndrome), although the absolute risk is low, according to a multiethnic study of more than 11300 babies from the city of Bradford in the UK, published in The Lancet.

5 Jul 2013

FDA-approved formoterol drug improves cognitive function in mouse model of Down syndrome

An existing FDA-approved drug improves cognitive function in a mouse model of Down syndrome, according to a new study by researchers at the Stanford University School of Medicine.

3 Jul 2013

Teva signs agreement with Verinata Health for commercialization of verifi prenatal test in Israel

Illumina, Inc. today announced that Teva Pharmaceutical Industries Ltd. signed an exclusive agreement with Verinata Health, an Illumina company, for the commercialization of the verifi non-invasive prenatal test in Israel.

1 Jul 2013

UNIGE researchers identify genomic variations associated with trisomy 21

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency.

28 Jun 2013

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome - a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity - is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep.

26 Jun 2013

Researchers provide insights into potential therapeutic approaches to Down syndrome

University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome.

6 Jun 2013

Euro-Peristat project releases second European Perinatal Health Report

The European Perinatal Health Report released by the Euro-Peristat project is the most comprehensive report on the health and care of pregnant women and babies in Europe and brings together data from 2010 from 26 European Union member states, plus Iceland, Norway and Switzerland.

1 Jun 2013

Down Syndrome News and Research

Latest Down Syndrome News and Research

Children with 22q11.2 deletion syndrome may often be misdiagnosed to have autism

Elan enrolls first patient dosing in phase 2a study of ELND005 in Down syndrome

Clinical study to investigate effects of prenatal chromosomal abnormalities through microarray analysis

Parents use bibliotherapy as a tool to help kids facing social issues

Risk for childhood cancer moderately increased among adolescents with major birth defects

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

Verinata Health receives New York's Laboratory Permit for CLIA-certified verifi prenatal test

Researchers to study knowledge and satisfaction of women who choose DNA prenatal screening test

State highlights: DOJ sues Fla. over keeping children in nursing homes

First Edition: July 23, 2013

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Judge blocks new Wis. abortion law; Texas rallies draw thousands

Action Medical Research funds three new Research Training Fellowships

Consanguineous marriages and older mothers increase risk of birth anomalies in children

FDA-approved formoterol drug improves cognitive function in mouse model of Down syndrome

Teva signs agreement with Verinata Health for commercialization of verifi prenatal test in Israel

UNIGE researchers identify genomic variations associated with trisomy 21

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Researchers provide insights into potential therapeutic approaches to Down syndrome

Euro-Peristat project releases second European Perinatal Health Report

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Down Syndrome News and Research

Latest Down Syndrome News and Research

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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