Chromosome News and Research

Latest Chromosome News and Research

Researchers identify new functions of cohesin SA1 that are relevant for cancer and CdLS

Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of cohesin SA1 that are relevant for two human diseases, cancer and Cornelia de Lange Syndrome.

4 May 2012

Scientists discover new type of dynamic change in human stem cells

A team led by scientists at The Scripps Research Institute and the University of California (UC) San Diego has discovered a new type of dynamic change in human stem cells.

4 May 2012

Scientists discover key element in DNA repair mechanism

Scientists from the Kavli Institute of Nanoscience at Delft University of Technology have discovered a key element in the mechanism of DNA repair.

4 May 2012

Ambitious international project aims to compile landmark sequel to 'The Book of Life'

Scientists are announcing the roadmap, policies and procedures for an ambitious international project that aims to compile a landmark sequel to "The Book of Life." The follow-up to the Human Genome Project, which decoded all of the genes that make up humans, involves identifying and profiling all of the proteins produced by the thousands of genes bundled together in all of the human chromosomes.

3 May 2012

Autism researcher awarded $1 million grant to apply virtual-reality technology

UC Davis autism researcher and education specialist Peter Mundy has received a $1 million grant from the U.S. Department of Education to apply virtual-reality technology to evaluate social attention and its relation to academic achievement among school children with autism.

3 May 2012

JS Genetics announces availability of XCAT-KS buccal swab test

JS Genetics announces the availability of XCAT-KS, its proprietary buccal swab test for the diagnosis of Klinefelter syndrome (KS) and other male sex chromosome aneuploidies.

3 May 2012

Scientists identify how cell architecture changes during formation of gametes

Scientists using high-powered microscopes have made a stunning observation of the architecture within a cell - and identified for the first time how the architecture changes during the formation of gametes, also known as sex cells, in order to successfully complete the process.

2 May 2012

LifeCodexx completes PraenaTest clinical study on trisomy 21

LifeCodexx today announced the successful completion of the clinical validation study of its noninvasive test method for the detection of fetal trisomy 21 from maternal blood using Next Generation sequencing.

2 May 2012

Couples with infertility and miscarriages offered detailed embryo screening with 99% accuracy

Termed “preimplantation genetic screening (PGS)” the process involves a full chromosome count of embryos to ensure only the healthiest are implanted. It has a 99 per cent accuracy rate, giving hopeful parents the best chance to conceive and carry a healthy baby to term.

30 Apr 2012

Researchers discover gene for new form of intellectual disability

Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.

27 Apr 2012

Mitotic spindle may be more complex than previously thought

The mitotic spindle, an apparatus that segregates chromosomes during cell division, may be more complex than the standard textbook picture suggests, according to researchers at the Harvard School of Engineering and Applied Sciences.

27 Apr 2012

Researchers examines whether MRI can improve accuracy of Huntington’s diagnosis

Huntington disease (HD) is an inherited neurodegenerative disorder caused by a defect on chromosome four where, within the Huntingtin gene, a CAG repeat occurs too many times. Most individuals begin experiencing symptoms in their 40s or 50s, but studies have shown that significant brain atrophy occurs several years prior to an official HD diagnosis. As a result, the field has sought a preventive treatment that could be administered prior to the development of actual symptoms that might delay the onset of illness.

27 Apr 2012

Kids who are abused or bullied may age faster

The study finds that violence-related stress in children affects telomeres - special DNA sequences found at the tips of chromosomes. Telomeres, which prevent DNA from unravelling, get shorter each time cells divide, which limits the number of times cells can divide. Shorter telomeres have been linked to poorer survival and chronic diseases. Previous research has shown that smoking, obesity, mental-health disorders and stress may accelerate the process of telomere loss. This suggests that telomere length may reflect a person's biological age as well as their chronological age.

25 Apr 2012

Clinical trial to evaluate IGF-1 in children with SHANK3 deficiency

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

25 Apr 2012

Stress can shorten telomeres at a very young age

Children who have experienced violence might really be older than their years. The DNA of 10-year-olds who experienced violence in their young lives has been found to show wear and tear normally associated with aging, a Duke University study has found.

24 Apr 2012

Researchers identify gene that increases risk of MI in newborns with CF

Researchers at Johns Hopkins have identified a gene that modifies the risk of newborns with cystic fibrosis (CF) developing neonatal intestinal obstruction, a potentially lethal complication of CF.

24 Apr 2012

Study pinpoints mechanism by which spindle checkpoint proteins bind chromosomes

The development of more effective cancer drugs could be a step nearer thanks to the discovery, by scientists at Warwick Medical School, of how an inbuilt 'security check' operates to guarantee cells divide with the correct number of chromosomes.

21 Apr 2012

Researchers uncover 22 new genes linked with autism, other neurodevelopmental disorders

When chromosomes replicate, sometimes there is an exchange of genetic material within a chromosome or between two or more chromosomes without a significant loss of genetic material. This exchange, known as a balanced chromosomal abnormality (BCA), can cause rearrangements in the genetic code.

21 Apr 2012

First study to look at link between gender and mother's cardiac disease

Women with heart disease are more likely to give birth to female rather than male babies according to a new study presented today at the World Congress of Cardiology. The study found that three-quarters of the 216 children born to 200 pregnant women with diagnosed heart disease were female.

20 Apr 2012

Conventional testing underestimates Rett Syndrome patients' cognitive abilities

Researchers at Montefiore Medical Center have identified, in a pilot study published in the April edition of Pediatric Neurology, that children with Rett Syndrome, who cannot speak or use their hands to communicate and therefore were thought to be unable to understand and process information, do in fact exhibit meaningful visual search whereby they can process and prioritize information.

18 Apr 2012