Down’s Syndrome News and Research

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S. Lawrence Zipursky to receive 2015 Louisa Gross Horwitz Prize from Columbia University

Columbia University will award the 2015 Louisa Gross Horwitz Prize to S. Lawrence Zipursky, PhD, for discovering a molecular identification system that helps neurons to navigate and wire the brain. Zipursky is a professor of biological chemistry at the University of California, Los Angeles and a Howard Hughes Medical Institute investigator.

23 Sep 2015

Study confirms pathogenic role of beta amyloid in dementia as seen in AD and Down syndrome

More than five million Americans are living with Alzheimer's disease (AD). Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid.

18 Sep 2015

Hastings Center receives NSF grant for ethical analysis of next-generation prenatal genetic tests

Prenatal testing is changing dramatically. With greatly expanded low-cost genetic tests - some as simple as a maternal blood test - prospective parents will soon be able to learn far more, far earlier, than ever before about their fetuses' medical conditions and risks, and some nonmedical traits.

11 Sep 2015

Gene ZSCAN4 may help treat Down syndrome

For people with Down syndrome, news from Elixirgen, LLC may brighten their day. The biotechnology company, located in the Science + Technology Park at Johns Hopkins, has outlined one of the best potential therapies yet for people with Down syndrome and other chromosome disorders in a paper entitled, "Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures," published in the journal DNA Research.

31 Aug 2015

Promising research aims at finding cure for hydrocephalus

Scientists are focusing in on promising research aimed at finding a cure for hydrocephalus; and a new initiative funded by the Hydrocephalus Association, the largest private funder of hydrocephalus research in the United States, is uniting these researchers to accelerate their progress.

27 Aug 2015

Understanding the workings of error correction mechanism in cell division

Cell biologists led by Thomas Maresca at the University of Massachusetts Amherst, with collaborators elsewhere, report an advance in understanding the workings of an error correction mechanism that helps cells detect and correct mistakes in cell division early enough to prevent chromosome mis-segregation and aneuploidy, that is, having too many or too few chromosomes.

30 Jul 2015

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder.

28 Jul 2015

Study identifies new culprit in Alzheimer's disease development

A recent study conducted at Nathan S. Kline Institute for Psychiatric Research and NYU Langone Medical Center implicates a new culprit in Alzheimer's disease development. The research reveals that ßCTF -- the precursor of the amyloid beta (Aß) peptide -- acts at the earliest stage of Alzheimer's to initiate a range of abnormalities leading to the loss of groups of neurons critical for memory formation.

22 Jul 2015

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2.

21 Jul 2015

Noninvasive prenatal screening could detect maternal cancer

A study published today in the Journal of the American Medical Association shows that genetic test results, as revealed by non-invasive prenatal testing for fetal chromosome abnormalities, may detect underlying conditions in the mother, including cancer.

15 Jul 2015

Mothers of infants with Down's syndrome need tailored breastfeeding guidance

Despite compelling evidence about the benefits of breastfeeding little is known about the breastfeeding experiences of mothers of infants with Down's syndrome. In the UK, clinical commissioning groups and practitioners have a vital role in empowering and enabling these women to access help and support as soon as the child is born.

9 Jul 2015

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

When egg cells form with an incorrect number of chromosomes--a problem that increases with age--the result is usually a miscarriage or a genetic disease such as Down syndrome.

2 Jul 2015

Two physician-scientists in search for better Alzheimer's disease treatment

Two of the nation's leading physician-scientists in the search to better understand and treat Alzheimer's disease - William Mobley, MD, PhD, and Michael Rafii, MD, PhD - have been named interim co-directors of the Alzheimer's Disease Cooperative Study (ADCS), a major initiative formed in 1991 as a cooperative agreement between the National Institute on Aging (NIA) and the University of California, San Diego.

27 Jun 2015

Study reveals differences in the way brain inflammation is expressed in people with Down syndrome, AD

Researchers at the University of Kentucky's Sanders-Brown Center on Aging have completed a study that revealed differences in the way brain inflammation -- considered a key component of AD-- is expressed in different subsets of patients, in particular people with Down syndrome (DS) and AD.

26 Jun 2015

New study gives insight into the mental health of teens, children with Down syndrome

A new study gives insight into the mental health of children and teens with Down syndrome and the behavioral medications that medical caregivers sometimes prescribe for them.

8 Jun 2015

Study: Non-invasive prenatal testing works in women at high risk of having babies with Down's syndrome

Results from a national study of non-invasive prenatal testing (NIPT) in women at high risk of having a baby with Down's syndrome will be presented at the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Non-invasive prenatal testing (NIPT) for Down's syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service, UK researchers say. The results of a National Institute for Health Research study carried out by the first NHS laboratory to provide NIPT testing will be reported to the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

SDSU researchers awarded NIH grant to understand how autism plays out across the lifespan

In the public consciousness, autism spectrum disorder only affects children. In truth, ASD is a lifelong condition. But how it affects older adults is a gaping unknown in autism research. Now, a new and significant grant from the National Institutes of Health will help researchers at San Diego State University understand how the disorder plays out across the lifespan.

29 May 2015

Catatonia may cause regression in Down syndrome patients

Down syndrome, the most common chromosomal disorder in America, can be complicated by significant deterioration in movement, speech and functioning in some adolescents and young adults. Physicians previously attributed this regression to depression or early-onset Alzheimer's, and it has not responded to treatments.

13 May 2015

Vanderbilt biologists explore how electrochemical connections form at molecular and cellular level

Every time you make a memory, somewhere in your brain a tiny filament reaches out from one neuron and forms an electrochemical connection to a neighboring neuron.

27 Apr 2015

Down’s Syndrome News and Research

S. Lawrence Zipursky to receive 2015 Louisa Gross Horwitz Prize from Columbia University

Study confirms pathogenic role of beta amyloid in dementia as seen in AD and Down syndrome

Hastings Center receives NSF grant for ethical analysis of next-generation prenatal genetic tests

Gene ZSCAN4 may help treat Down syndrome

Promising research aims at finding cure for hydrocephalus

Understanding the workings of error correction mechanism in cell division

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Study identifies new culprit in Alzheimer's disease development

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

Noninvasive prenatal screening could detect maternal cancer

Mothers of infants with Down's syndrome need tailored breastfeeding guidance

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

Two physician-scientists in search for better Alzheimer's disease treatment

Study reveals differences in the way brain inflammation is expressed in people with Down syndrome, AD

New study gives insight into the mental health of teens, children with Down syndrome

Study: Non-invasive prenatal testing works in women at high risk of having babies with Down's syndrome

Non-invasive prenatal testing for Down's syndrome acceptable to parents

SDSU researchers awarded NIH grant to understand how autism plays out across the lifespan

Catatonia may cause regression in Down syndrome patients

Vanderbilt biologists explore how electrochemical connections form at molecular and cellular level

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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