Current Trisomy News and Events

Current Trisomy News and Events, Trisomy News Articles.
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International study finds increased COVID-19 mortality among adults with Down syndrome
A new study by an international team of researchers found that adults with Down syndrome are more likely to die from COVID-19 than the general population, supporting the need to prioritize vaccinating people with the genetic disorder. (2021-02-22)

The genetic susceptibility of people with Down's syndrome to COVID-19
A study reveals the genetic factors that may expose or protect people with Down syndrome from SARS-CoV-2. TMPRSS2, a gene that codes for an enzyme critical for aiding the entry of SARS-CoV-2 in human cells, had 60% higher levels of expression in Down syndrome. The researchers also found higher expression levels for CXCL10, a gene that can trigger cytokine storms. The authors call to vaccinate people with Down syndrome against COVID-19 as a priority. (2021-02-08)

Plant compound reduces cognitive deficits in mouse model of Down syndrome
The plant compound apigenin improved the cognitive and memory deficits usually seen in a mouse model of Down syndrome, according to a study by researchers at the National Institutes of Health and other institutions. Apigenin is found in chamomile flowers, parsley, celery, peppermint and citrus fruits. The findings raise the possibility that a treatment to lessen the cognitive deficits seen in Down syndrome could one day be offered to pregnant women whose fetuses have been diagnosed with Down syndrome through prenatal testing. (2020-10-23)

Low risk of COVID-19 infection found among people with congenital heart disease
Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal of the American Heart Association, an open access journal of the American Heart Association. (2020-10-14)

New insights into why people with down syndrome are at higher risk for leukemia
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago were the first to examine endothelial cells - one of the main sources of blood production - for clues as to why people with Down syndrome have higher prevalence of leukemia. They identified a new set of genes that are overexpressed in endothelial cells of patients with Down syndrome. (2020-09-08)

Research story tip: Down syndrome mice open door to better understanding of the disorder
Johns Hopkins Medicine researchers and their collaborators have created and characterized a new mouse replica of Down syndrome, long considered one of the most challenging disorders to simulate in laboratory animals. (2020-08-18)

Genes related to down syndrome abnormalities may protect against solid tumors
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems. Impairment in these same genes may also protect people with Down syndrome from developing solid tumors. Their findings were published in Scientific Reports. (2020-08-06)

New therapeutic targets for treating memory impairment in Down syndrome
Researchers from Hospital del Mar Medical Research Institute studied the neural basis of intellectual disability in mice with Down syndrome and discovered that the neural networks of brain circuits relevant to memory and learning are over-activated and that the connectivity of these circuits is poor. They also identified biomarkers in brain rhythms that can predict memory deficits in the mice which are corrected by chronic treatment with a natural component of green tea, epigallocatechin gallate (2020-05-05)

Major discovery in the genetics of Down syndrome
New research highlights the RCAN1 gene's effect on memory and learning. (2020-02-21)

Research supports expanding insurance coverage of non-invasive prenatal testing
Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences provides evidence to support expansion of insurance plan coverage of noninvasive prenatal testing (NIPT), a simple maternal blood draw which screens for fetal chromosomal disorders including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome), to women under the age of 35. (2019-10-08)

Exploring the risk of ALL in children with Down syndrome
Researchers discovered new clues that provide a better understanding of why children with Down syndrome have an increased risk of leukemia. (2019-09-24)

Advanced data analysis enhances precision medicine application in clinics
Scientists have published a novel computational framework for highly accurate and targeted Non-Invasive Prenatal genetic Testing (NIPT) assay, which enables the application of cost-effective TAC-seq laboratory method in clinical practice. The developed computational workflow allows for the detection of frequent fetal trisomies and the parental origin of trisomic chromosomes from the mother's blood cell-free DNA sample in the early stages of pregnancy. (2019-08-14)

Unravelling the 3-dimensional genomic structure of male germ cells
A study led by the UAB and the CNAG-CRG reveals the three-dimensional genomic structure of male germ cells and how this structure determines their function. Published in Cell Reports, it represents a significant advance in our understanding of how the dynamics of insulator proteins and transcriptional activity are coupled during the 3D genome re-organisation that takes place during the formation of male germ cells. (2019-07-10)

Promise of liquid biopsy in cancer biomarker detection and prenatal screening
The promise and challenges of liquid biopsy, an emerging, noninvasive method for targeted disease diagnosis and detection of cancer biomarkers to enable improved and personalized therapy, is the focus of a new special issue of Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert Inc. publishers. (2019-04-22)

Endocannabinoid system, a target to improve cognitive disorders in models of Down syndrome
A study by the Neuropharmacology Laboratory-NeuroPhar of the Department of Experimental and Health Sciences (DCEXS) at UPF reveals the involvement of the endocannabinoid system in cognitive disorders in mouse models of Down syndrome. The work, led by Andrés Ozaita and Rafael Maldonado, which has been published in the journal Neurobiology of Disease, also identifies cannabinoid receptor type-1 (CB1) as a potential treatment target. (2019-02-06)

Scientists use prenatal testing samples to complete the largest genetic study yet in China
Researchers have sequenced the genomes of over 140,000 women in China, the largest-scale genetic analysis of Chinese people to date, using data from non-invasive prenatal testing (NIPT) to assemble a representative sample of the whole population. The proof-of-concept analysis, still underway, could reveal new information about migration patterns, traits under selective pressure, and disease risk in Chinese populations. The work, from BGI-Shenzhen, appears Oct. 4 in the journal Cell. (2018-10-04)

Non-invasive prenatal diagnosis can reliably detect trisomy 21
NIPD can reduce the number of invasive tests and hence the number of test-related miscarriages in women whose foetuses are at an increased risk of trisomy 21. (2018-07-05)

The Down's syndrome 'super genome'
Only 20 percent of foetuses with trisomy 21 reach full term. But how do they manage to survive the first trimester of pregnancy despite this heavy handicap? Researchers from UNIGE and UNIL have found that children born with Down's syndrome have an excellent genome - better than the average genome of people without the genetic abnormality. It is possible that this genome offsets the disabilities caused by the extra chromosome, helping the foetus to survive. (2018-01-19)

Trisomy 21: Research breaks new ground
Researchers from UNIGE and ETHZ have analysed the proteins of individuals with trisomy 21: the goal was to improve our understanding of how a supernumerary copy of chromosome 21 could affect human development. The research shows that trisomy 21 impacts on the proteins encoded by the genes located on the other chromosomes. In fact, the cells are overwhelmed by the protein surplus generated by the triplicated genes, and cannot regulate the amount of proteins. (2017-11-28)

New DNA antenatal screening for Down's syndrome shown to be a 'transformational advance'
Medical scientists at Queen Mary University of London (QMUL) have demonstrated for the first time that it is possible to incorporate DNA analysis into antenatal screening for three serious chromosome disorders, including Down's syndrome, in a way that is far more accurate than existing methods, and safer and less stressful for mothers. (2017-11-08)

Newborns with trisomy 13 or 18 benefit from heart surgery, study finds
Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford University School of Medicine and his colleagues at the University of Arkansas for Medical Sciences. (2017-10-18)

Sequencing all 24 human chromosomes uncovers rare disorders
Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. (2017-08-30)

Reprogrammed cells rescue infertility in mice
Reprogramming cells carrying a third chromosome resulted in the loss of the extra chromosome in mice and human cells, scientists report, which could eventually pave the way to novel approaches that treat developmental defects or infertilities associated with extra chromosomes. (2017-08-17)

For keeping X chromosomes active, chromosome 19 marks the spot
After nearly 40 years of searching, Johns Hopkins researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos are formed, effectively allowing for the generally lethal activation of more than one X chromosome during development. (2017-04-17)

Researchers document second case of 'Down syndrome' in chimps
Japanese researchers have confirmed the second case known to science of a chimpanzee born with trisomy 22, a chromosomal defect similar to that of Down syndrome (or trisomy 21) in humans. The report1 on Kanako, a 24-year-old female chimp born into captivity, was led by Satoshi Hirata of Kyoto University in Japan, and appears in the journal Primates², published by Springer. (2017-02-21)

Researchers cast into doubt a tenet of the dominant evolutionary biology model
A team of Université Laval researchers has cast into doubt a tenet of evolutionary biology according to which organisms with more than one copy of the same gene in their genome are more resilient to genetic perturbations. In an article to be published tomorrow in Science, the researchers show that this genetic redundancy can also make the genome more fragile, leaving organisms more vulnerable to the effects of harmful mutations. (2017-02-09)

Dartmouth study: How age-related genetic anomalies contribute to the maternal age effect
For women in their 30s and beyond, the probability of a pregnancy that results in a miscarriage or a Down syndrome pregnancy is staggering with the risk increasing to 1 in 3 by the time a woman reaches her early 40s due to the 'maternal age effect.' Dartmouth researchers have provided the first evidence in vivo that an increase of reactive oxygen species within oocytes causes a significant increase in meiotic chromosome segregation errors. (2016-10-19)

The life cycle of proteins
Some proteins behave in an unusual way: the older they become, the longer their life expectancy. A research team at the Max Delbrück Center in the Helmholtz Association (MDC) has now published this paradoxical finding in the journal Cell. Their work has traced the life cycle of thousands of molecules from the translation of mRNA transcripts to the disposal of the proteins they encode. The results are relevant for diseases where there are surplus copies of certain genes. (2016-10-06)

Global DS Foundation funds research showing impact of trisomy 21 on interferon signaling
Renowned Crnic Institute scientist, Dr. Espinosa, has found the interferon response is constantly activated in people with Down syndrome causing the body to fight a viral infection when such infection doesn't exist. Constant immune system activation would likely cause damaging side-effects and may explain cognitive deficit, increased prevalence of autoimmune disorders, higher risk of Alzheimer's disease, and protection against solid tumors. Testing FDA-approved drugs that block the interferon response could be an important next step. (2016-09-08)

Survival, surgical interventions for children with rare, genetic birth disorder
Among children born with the chromosome disorders trisomy 13 or 18 in Ontario, Canada, early death was the most common outcome, but 10 percent to 13 percent survived for 10 years, according to a study appearing in the July 26 issue of JAMA. Among children who underwent surgical interventions, one-year survival was high. (2016-07-26)

Study examines issues related to prenatal detection of trisomies
Cell-free (cf) DNA analysis of maternal blood for trisomies 21, 18 and 13 is superior to other methods of screening, but it's expensive. One strategy to maximize cfDNA testing at reduced cost is to offer it contingent on the results of the currently used first-trimester test. (2015-11-03)

New growth charts developed for US children with Down syndrome
Pediatric researchers have developed the first set of growth charts for US children with Down syndrome since 1988. These new charts provide an important tool for pediatricians to evaluate growth milestones for children and adolescents with this condition. With these new charts, pediatricians will be able to compare each patient's growth patterns with peers of the same age and sex who have Down syndrome. (2015-10-27)

Noninvasive prenatal fetal testing can detect early stage cancer in mothers
Noninvasive prenatal testing (NIPT) for chromosomal fetal disorders is used increasingly to test for conditions such as Down's syndrome, because it is known to be much safer than invasive testing methods. Now, for the first time, researchers from Belgium have found another advantage of NIPT; it can detect maternal cancers at an early stage, before symptoms appear. (2015-06-05)

Noninvasive prenatal testing: Effective, safe, preferred by parents
UK researchers say that none-invasive prenatal testing is feasible, acceptable to parents, and could be introduced into the National Health Service. The same team also found that the technique was effective in the prenatal diagnosis of congenital adrenal hyperplasia, which exposes a female fetus to male hormones and can result in the development of masculinized external genitalia. (2015-06-05)

First national study of noninvasive prenatal testing shows it works
Results from the first national study of noninvasive prenatal testing in women at high risk of having a baby with Down's syndrome, carried out in The Netherlands, show that the technique is accurate and acceptable to parents. The researchers involved now believe that such testing should be available to all women, irrespective of their risk of having an affected child. (2015-06-05)

Latest study finds BGI's NIFTY® test performs best in noninvasive prenatal screening
On April 1, 2015, researchers from the Baylor College of Medicine, the Chinese University of Hong Kong and the University of Hong Kong have published a study titled Accurate Description of DNA-Based Noninvasive Prenatal Screening in the New England Journal of Medicine. The study found that BGI's NIFTY test performed better than all other NIPT tests examined. (2015-04-10)

Some false postive prenatal genetic screens due to mother's extra DNA segments
In prenatal care, maternal blood screening for extra chromosomes in the fetus is becoming increasingly common. Such tests might give false-positive results if the mother's genome contains more than the usual number of certain DNA segments, especially if the fetus has inherited an elongated chromosome. The tests could be improved to account for the fact that chromosomes can vary in size and composition among people. (2015-04-02)

Blood test trumps accuracy of standard screening in detecting Down syndrome in early pregnancy
A blood test undertaken between 10 to 14 weeks of pregnancy may be more effective in diagnosing Down syndrome and two other less common chromosomal abnormalities than standard non-invasive screening techniques, according to a multicenter study led by a UCSF researcher. (2015-04-01)

BGI study confirms accuracy of its NIFTY in nearly 147,000 pregnancies
BGI has published a study tracking the clinical performance of its whole genome sequencing-based non-invasive prenatal test (the NIFTY test) in nearly 147,000 pregnancies, the largest such study to date. The results showed high sensitivity and specificity and no significant difference between high-risk and low-risk pregnant women. (2015-02-04)

Non-invasive first trimester blood test reliably detects Down's syndrome
Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), (2015-02-02)

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