X chromosome News and Research

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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

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

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

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

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

Individuals with low-quality genes may produce offspring with even more inferior chromosomes

Evolutionary biologists at the University of Toronto have found that individuals with low-quality genes may produce offspring with even more inferior chromosomes, possibly leading to the extinction of certain species over generations.

17 Apr 2012

Two research studies on genetic components of Alzheimer's

Two research studies, co-led by UC Davis neurologist Charles DeCarli and conducted by an international team that included more than 80 scientists at 71 institutions in eight countries, has advanced understanding of the genetic components of Alzheimer's disease and of brain development. Both studies appear in the April 15 edition of the journal Nature Genetics.

16 Apr 2012

Missing tool helps sperm and eggs develop exactly 23 chromosomes each

Researchers at the University of California, Davis have discovered a key tool that helps sperm and eggs develop exactly 23 chromosomes each. The work, which could lead to insights into fertility, spontaneous miscarriages, cancer and developmental disorders, is published April 13 in the journal Cell.

16 Apr 2012

Study investigates genetic factors and smoking exposure in Japanese lung cancer patients

Previous research has shown that Asian patients with lung cancer are more likely to harbor epidermal growth factor receptor (EGFR) mutations. Furthermore, Asian patients with lung cancer are more likely to be non-smokers than Western patients with lung cancer. Research in the May 2012 issue of the International Association for the Study of Lung Cancer's (IASLC) Journal of Thoracic Oncology goes deeper, investigated genetic factors and smoking exposure in Japanese lung cancer patients.

16 Apr 2012

ALL induction treatment failure should not be an automatic indication for bone marrow transplant

International study that included St. Jude Children's Research Hospital reports some young acute lymphoblastic leukemia patients who fail induction therapy can achieve high cure rates without bone marrow transplantation.

12 Apr 2012

Hi-C sequencing decodes 3-D structure of DNA folds in chromosomes

Chromosomes are strands of DNA that contain the blueprint of all living organisms. Humans have 23 pairs of chromosomes that instruct how genes are regulated during development of the human body. While scientists have developed an understanding of the one-dimensional structure of DNA, until today, little was known about how different parts of DNA are folded next to each other inside the nucleus.

12 Apr 2012

Researchers identify new gene variants linked with common childhood obesity

Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.

9 Apr 2012

Scientists discover novel genes that are mutated in stomach cancer

An international team of scientists, led by researchers from the Duke-NUS Graduate Medical School (Duke-NUS) in Singapore and National Cancer Centre of Singapore, has identified hundreds of novel genes that are mutated in stomach cancer, the second-most lethal cancer worldwide.

9 Apr 2012

Drug resistance woes hamper anti-malaria fight

Researchers have found that there is increasing resistance to the front-line treatments for malaria. A pair of studies published in The Lancet and the journal Science showed how the disease is moving fast into new territory and identified a region of the parasite's genome that may be responsible for mutating in order to survive.

5 Apr 2012