Chromosome News and Research

Latest Chromosome News and Research

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Kids with T13 or 18 and their families lead a happy life

Children with trisomy 13 or 18, who are for the most part severely disabled and have a very short life expectancy, and their families lead a life that is happy and rewarding overall, contrary to the usually gloomy predictions made by the medical community at the time of diagnosis, according to a study of parents who are members of support groups published today in Pediatrics.

23 Jul 2012

Five rare mutations in single gene increase chances of boys developing ASD

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

13 Jul 2012

DRCRF names 21 new Damon Runyon Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 21 new Damon Runyon Fellows at its spring Fellowship Award Committee review.

11 Jul 2012

Osteoarthritis gene tic markers identified

Scientists have used data from the Arthritis Research UK Osteoarthritis Genetics study to identify five gene loci significantly associated with the development of the disease.

10 Jul 2012

Safe optimal concentration of propolis against radiation-induced damage

Researchers determined the amount of propolis offering maximum protection against ionised radiations without being toxic to blood cells.

7 Jul 2012

Bioengineers develop microfluidic platform to mechanically confine cancer cells

It's well known in conventional biology that during the process of mammalian cell division, or mitosis, a mother cell divides equally into two daughter cells. But when it comes to cancer, say UCLA researchers, mother cells may be far more prolific.

6 Jul 2012

Toxins and cell death: Interview with Professor Denise Montell

There are multiple kinds of cell death. Cells can undergo programmed cell death, which is a series of events that undergoes a predictable order at certain times during development.

6 Jul 2012

Study represents starting point for future clinical applications using propolis

A team of researchers from the University of Valencia, the Universitat Politècnica de València, the University Hospital La Fe and the Universitat Autònoma de Barcelona conducted in vitro studies of cytotoxicity (cellular affection) to assess the optimal concentration level of propolis in which this natural substance extracted from bee resin would offer the maximum protection against ionised radiation and not be toxic for blood cells.

6 Jul 2012

PHF21A gene plays a big role in Potocki-Shaffer syndrome

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.

6 Jul 2012

Researchers use maternal blood sample to sequence genome of an unborn baby

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

5 Jul 2012

Researchers use mouse model of autism to treat CTD

Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.

3 Jul 2012

Osteoarthritis susceptibility: eight potential genes discovered

The largest genome-wide association study (GWAS) of osteoarthritis to date, published Online First in The Lancet, has uncovered eight new genetic variants or loci that appear to increase susceptibility to the most common form of arthritis, which affects about 40% of the world population older than 70 years. These findings bring the total number of osteoarthritis susceptibility genes isolated in European populations to 11.

3 Jul 2012

Researchers show how aggressive form of multiple myeloma resists chemotherapy

Researchers at Washington University School of Medicine in St. Louis have shown how an aggressive form of multiple myeloma resists chemotherapy.

3 Jul 2012

Genetic mutation that creates Ewing's sarcoma leads to high levels of protein EYA3

Ewing's sarcoma is a bone cancer commonly diagnosed in about 250 U.S. teenagers per year. If early chemotherapy is effective, improvement can be durable. But for children and teens who respond poorly to a first attempt at chemotherapy or if the disease spreads, long-term survival can be less than 10 percent.

30 Jun 2012

Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Study suggests adverse role for BclI polymorphism in obesity and insulin resistance

A large study in people at risk of diabetes has found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The results, to be presented Tuesday at The Endocrine Society's 94th Annual Meeting in Houston, suggest an adverse role for a previously described genetic variant, the BclI polymorphism.

28 Jun 2012

Study reveals decline in number of babies born with birth defects across Europe

The number of babies born with birth defects (major congenital anomalies) across Europe has fallen over the decade (2000-2009), University of Ulster research has revealed.

23 Jun 2012

Oxytocin hormone plays an important role in Williams syndrome

The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, 2012, in PLoS One.

23 Jun 2012

Scientists identify cause of double-cortex syndrome

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard of the Department of Biology have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

22 Jun 2012