Trisomy X News and Research

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Serbia's genome center monitors potential virus mutations to facilitate more effective COVID-19 control

In partnership with BGI Genomics from China, Serbia's first genome sequencing center, opened in December 2021, is monitoring potential virus mutations to facilitate more effective COVID-19 control and accelerating access to genomics to enhance health outcomes.

9 Aug 2022

Overnight EEG studies may help inform care for girls with Rett syndrome

In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12 to 18 months of age.

8 Aug 2022

Shared decision-making training program for nurses to support Down syndrome screening decisions

JMIR Publications recently published "Web-Based Training for Nurses on Using a Decision Aid to Support Shared Decision-making About Prenatal Screening: Parallel Controlled Trial" in JMIR Nursing which reported that in this study, these authors aimed to assess the impact of a shared decision-making (SDM) training program on nurses' intention to use a decision aid with pregnant women deciding on prenatal screening for Down syndrome.

29 Jul 2022

Insight into the future of genetic testing

In this interview, we speak to Sheetal Parmar, vice president of medical affairs and head of clinical services at Natera, about their cell-free DNA (cfDNA) testing services.

From Natera 15 Apr 2022

Scientific statement from the American Heart Association on COVID-19 and cardiovascular complications in children and adolescents

A recent scientific statement published in Circulation reviewed the current knowledge on COVID-19.

13 Apr 2022

Heart complications uncommon for children and young adults after SARS-CoV-2 infection

Heart complications are uncommon, yet treatable for children and young adults after COVID-19 disease or SARS-CoV-2 infection, according to a new scientific statement from the American Heart Association that details what has been learned about how to treat, manage and even prevent cardiovascular complications from the SARS-CoV-2 virus in youth.

12 Apr 2022

First genetic rat model of Down syndrome offers better understanding of the condition

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

14 Mar 2022

Novel type of cellular therapy safe for knee pain caused by osteoarthritis, study confirms

A study released in STEM CELLS Translational Medicine has confirmed the safety of a novel type of cellular therapy for knee pain caused by osteoarthritis.

3 Aug 2021

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics.

8 Jul 2021

Adults with Down syndrome more likely to die from COVID-19 than general population

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.

22 Feb 2021

FISH technique can be used to probe sperm DNA for chromosomal defects

Chemotherapy and radiation treatments are known to cause harsh side effects that patients can see or feel throughout their bodies.

19 Jan 2021

People born with a heart defect have low risk of moderate or severe COVID-19 infection

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.

14 Oct 2020

Specific gene impairment may also protect people with Down syndrome

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.

6 Aug 2020

How COVID-19 affects people with Down Syndrome

A new study published in June 2020 on the preprint online server medRxiv reports on the increased risk of COVID-19 in Down Syndrome (DS) and certain characteristic features that are found in this population segment.

3 Jun 2020

New therapeutic possibilities for treating intellectual disability in Down syndrome

A team of researchers has studied the neural basis of intellectual disability in mice with Down syndrome and has 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.

5 May 2020

Researchers discover new mechanism involved in the expression of Down syndrome

Researchers at CHU Sainte-Justine and Université de Montréal have discovered a new mechanism involved in the expression of Down syndrome, one of the main causes of intellectual disability and congenital heart defects in children.

21 Feb 2020

High-income and low-income countries have major differences in CHD prevalence, mortality

Even though mortality from congenital heart disease has declined over the last three decades as diagnosis and treatments have advanced, the chances for a child to survive a CHD diagnosis significantly differs based on the country where he or she is born.

3 Feb 2020

OGT launches high-quality NGS panel for research into Chronic Lymphocytic Leukemia

Oxford Gene Technology, A Sysmex Group Company, is excited to announce the launch of its SureSeq CLL + CNV Panel — the company’s latest high-quality, next-generation sequencing offering for research into Chronic Lymphocytic Leukaemia.

From Oxford Gene Technology 16 Jan 2020

Research provides evidence to support expansion of insurance coverage of NIPT

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.

8 Oct 2019

Researchers explore risk of ALL in children with Down syndrome

Acute lymphoblastic leukemia (ALL), is the most common childhood cancer. Children with trisomy 21 (Down syndrome) are 10 to 20 times more likely to develop ALL than children without Down syndrome.

24 Sep 2019