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Scientists evaluate two different strategies to treat Usher syndrome

After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful treatment approach. The scientists in the Usher research group of Professor Dr. Uwe Wolfrum are evaluating two different strategies. These involve either the repair of mutated genes or the deactivation of the genetic defects using agents.

6 Dec 2012

TAU scientists win top prize in American Society of Human Genetics art competition

The fine arts and the exact sciences may appear an unlikely pair, but creativity is a crucial element in both. Prof. Karen Avraham and PhD candidate Shaked Shivatzki of Tel Aviv University's Sackler Faculty of Medicine embraced this truth when creating Hearing and Deafness: Structure and Sequence, their winning submission to the recent American Society of Human Genetics art competition.

6 Dec 2012

Highlights for December 2012 issue of GSA’s Genetics journal

Listed below are the selected highlights for the December 2012 issue of the Genetics Society of America's journal, Genetics.

5 Dec 2012

METACARDIS project to develop and implement personalized treatments for patients with CMDs

Thanks to the support of the European Commission, fourteen partners in six European countries will work together over a five-year period to translate the results obtained with novel CMD diagnosis and treatment methods and pave the way for personalised medicine in CMDs. Researchers and clinicians from the Institute of Cardiometabolism and Nutrition (ICAN) will also be involved in the METACARDIS project.

5 Dec 2012

Study: Risk for skin cancer involves numerous genetic factors

It's common knowledge that excessive UV exposure from sunlight raises your chances for skin cancer, but predicting whether someone will actually develop skin cancer remains difficult. In a new research report, scientists from the University of Alabama at Birmingham (UAB) and the University of Wisconsin-Madison show that the risk for skin cancer involves numerous genetic factors including family history, ethnicity, and genetic variations specific to each individual.

5 Dec 2012

Feeding probiotics to baby zebrafish accelerates their development into adulthood

Probiotics like those found in yogurt are not only good for people--they are also good for fish. A new study by scientists at the Institute of Marine and Environmental Technology found that feeding probiotics to baby zebrafish accelerated their development and increased their chances of survival into adulthood.

4 Dec 2012

microRNAs play an important role during embryonic development

Sanford-Burnham researchers discover that microRNAs play an important role in germ layer formation-the process that determines which cells become which organs during embryonic development

3 Dec 2012

Researchers discover four new gene regions that contribute to low birth weight

An international team of genetics researchers has discovered four new gene regions that contribute to low birth weight. Three of those regions influence adult metabolism, and appear to affect longer-term outcomes such as adult height, risk of type 2 diabetes and adult blood pressure.

3 Dec 2012

Scientists identify 15 new genetic regions associated with coronary artery disease

Fifteen new genetic regions associated with coronary artery disease have been identified by a large, international consortium of scientists - including researchers at the Stanford University School of Medicine - taking a significant step forward in understanding the root causes of this deadly disease. The new research brings the total number of validated genetic links with heart disease discovered through genome-wide association studies to 46.

3 Dec 2012

Children with changes in bully genes have poor survival

In a genome sequencing study of 74 neuroblastoma tumors in children, scientists at the Johns Hopkins Kimmel Cancer Center and the Children's Hospital of Philadelphia (CHOP) found that patients with changes in two genes, ARID1A and ARID1B, survive only a quarter as long as patients without the changes. The discovery could eventually lead to early identification of patients with aggressive neuroblastomas who may need additional treatments.

3 Dec 2012

Scientists sequence DNA of biopsied tissue from colon polyps

The causes underlying the development of certain types of common cancers have not yet been elucidated. In order to better determine the origin and the sequence of events responsible for the onset of colon cancer, the teams led by Thanos Halazonetis and Stylianos Antonarakis, professors at the University of Geneva (UNIGE), Switzerland, have sequenced the DNA of biopsied tissue from colon polyps.

2 Dec 2012

New genetic study defines biology behind brain developmental disorder in children

This study describes how a combination of sequencing and mouse models were used to identify the gene responsible for a brain developmental disorder seen in four patients.

1 Dec 2012

Special issue of Disease Markers explores ASD genetics and biomarker development

Autism spectrum disorders (ASD) are neurodevelopmental disorders typically characterized by difficulties in social interactions and delayed or abnormal language development. Although ASD reportedly affects 1 in 88 people in the United States, to date there have been no distinctive biomarkers to diagnose the disease.

30 Nov 2012

JQ1 cancer drug may be useful in purging latent HIV infection

Breakthrough drugs have made it possible for people to live with HIV longer than ever before, but more work must be done to actually cure the disease. One of the challenges researchers face involves fully eradicating the virus when it is latent in the body.

30 Nov 2012

UBE3B gene linked to brain development disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this gene, UBE3B, has been linked to a disease.

30 Nov 2012

Study shows how PTPN22 variant linked with T1D influences susceptibility to autoimmunity

As part of their ongoing research on the role of genes in the development of type 1 diabetes, Joslin Diabetes Center scientists, in collaboration with scientists at the University of Würzburg, have demonstrated how a genetic variant associated with type 1 diabetes and other autoimmune diseases influences susceptibility to autoimmunity. The findings appear in the upcoming issue of Diabetes.

29 Nov 2012

Combination of blood test and whole-genome sequencing technology could screen cancers

Scientists at the Johns Hopkins Kimmel Cancer Center have combined the ability to detect cancer DNA in the blood with genome sequencing technology in a test that could be used to screen for cancers, monitor cancer patients for recurrence and find residual cancer left after surgery.

29 Nov 2012

New antifungal drugs could be developed based on substance bacteria use to decompose mushrooms

Soft rot diseases cause a great deal of damage in agriculture, and turn fruits, vegetables, and mushrooms to mush. By using imaging mass spectrometry together with genetic and bioinformatic techniques (genome mining), German researchers have now discovered the substance the bacteria use to decompose mushrooms.

29 Nov 2012

Blood test and gene sequencing combined to detect cancer

29 Nov 2012

THI to launch saliva-based TeloTest in first quarter 2013

Telome Health, Inc. (THI), developer of the TeloTest diagnostic test that measures average telomere length, announces the planned launch of the saliva-based TeloTest in the first quarter of 2013. Related telomere tests, including percentage of short telomeres, would follow.

28 Nov 2012

Genome News and Research

Scientists evaluate two different strategies to treat Usher syndrome

TAU scientists win top prize in American Society of Human Genetics art competition

Highlights for December 2012 issue of GSA’s Genetics journal

METACARDIS project to develop and implement personalized treatments for patients with CMDs

Study: Risk for skin cancer involves numerous genetic factors

Feeding probiotics to baby zebrafish accelerates their development into adulthood

microRNAs play an important role during embryonic development

Researchers discover four new gene regions that contribute to low birth weight

Scientists identify 15 new genetic regions associated with coronary artery disease

Children with changes in bully genes have poor survival

Scientists sequence DNA of biopsied tissue from colon polyps

New genetic study defines biology behind brain developmental disorder in children

Special issue of Disease Markers explores ASD genetics and biomarker development

JQ1 cancer drug may be useful in purging latent HIV infection

UBE3B gene linked to brain development disorder in children

Study shows how PTPN22 variant linked with T1D influences susceptibility to autoimmunity

Combination of blood test and whole-genome sequencing technology could screen cancers

New antifungal drugs could be developed based on substance bacteria use to decompose mushrooms

Blood test and gene sequencing combined to detect cancer

THI to launch saliva-based TeloTest in first quarter 2013

The art of CRISPR: The power and promise of gene editing eBook

Lab Matters host Harriet Gould on building a more connected lab community

The Critical Role of Sample Storage in Drug Discovery and Development

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

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