Germline News and Research

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Autism genome not shy about tinkering with important genes

An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than the rest of the genome. Genes that are linked to autism and a variety of other disorders have a particularly strong tendency to mutate.

21 Dec 2012

Genomic technology revolutionizes gene discovery and disease understanding in autism

Genomic technology has revolutionized gene discovery and disease understanding in autism, according to an article published in the December 20 issue of the journal Neuron.

20 Dec 2012

Universal tumor testing superior to selective strategy in identifying Lynch syndrome among CRC patients

In a comparison of strategies to identify individuals with Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), caused by mutations in certain genes (DNA mismatch repair [MMR] genes), universal tumor MMR testing among certain CRC patients had a greater sensitivity for the identification of Lynch syndrome compared with multiple alternative strategies, although the diagnostic improvement was modest, according to a study in the October 17 issue of JAMA.

17 Oct 2012

Therapeutic targets for pemphigus vulgaris discovered

Researchers have identified the primary target of the autoantibodies found in the serum of patients with the blistering skin disorder pemphigus vulgaris.

7 Sep 2012

Germline BAP1 mutations associated with novel cancer syndrome

University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical melanocytic tumors. Germline mutations are hereditary gene defects that are present in every cell.

7 Sep 2012

Scientists open new front against cause of sleeping sickness

Scientists of the Antwerp Institute of Tropical Medicine (ITG) opened a new front against the cause of sleeping sickness. This parasite is transmitted between humans by tsetse flies. The researchers learned a bacterium living in those flies how to produce antibodies against the parasite. Application in the field is still a long way of, but the technique shows quite some promise.

31 Aug 2012

Study on sea lamprey may indicate how potentially deleterious genes can be controlled

Research on a unique vertebrate called the sea lamprey shows that more than a thousand genes are shed during its early development.

22 Aug 2012

NIAID announces 14 grants for basic research to identify new HIV vaccine approaches

The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, has awarded 14 grants totaling $7.8 million in first-year funding for basic research to identify new approaches for designing a safe and effective HIV vaccine.

22 Aug 2012

Older father, US-born Hispanic mother, increases childhood retinoblastoma risk

The risk for retinoblastoma in children under 6 years of age is associated with paternal age and maternal birthplace and ethnicity, show US study results.

15 Aug 2012

Patients with multiple colorectal adenomas may carry germline mutations in APC or MUTYH genes

Among patients with multiple colorectal polyps, the prevalence of certain gene mutations varied considerably by polyp count, according to a study in the August 1 issue of JAMA.

1 Aug 2012

Wake Forest, UCSD develop new genetic test for prostate cancer

Karim Kader, MD, PhD, associate clinical professor at the UC San Diego School of Medicine, together with a team of researchers from Wake Forest University School of Medicine, have developed a genetic test to predict a man's risk for prostate cancer. Use of the test could reduce the need for repeat biopsies in men who have had a negative biopsy.

18 Jul 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

Researchers develop double viral vector transfection technique

The collaborative research team led by Professor Tadashi ISA, Project Assistant Professor Masaharu KINOSHITA from The National Institute for Physiological Sciences, The National Institutes of Natural Sciences and Fukushima Medical University and Kyoto University, developed "the double viral vector transfection technique" which can deliver genes to a specific neural circuit by combining two new kinds of gene transfer vectors.

18 Jun 2012

Researchers describe germ line functions of par-5 gene

Certain proteins, such as 14-3-3, conserve their basic functions of cell cycle control in diverse organisms, from worms to humans. In a study led by Juli-n Cer-n and Sim- Schwartz Jr, researchers from the Bellvitge Biomedical Research Institute (IDIBELL) and the Research Institute of Vall d'Hebron (VHIR) respectively, have described germ line functions of par-5, which is one of the two 14-3-3 proteins existing in Caenorhabditis elegans, worms used as experimental model in genetic studies.

10 Jun 2012

CHOP researcher leads trial of ALK inhibitor in neuroblastoma, lymphoma

A pill designed to zero in on abnormal genes that drive specific cancers has produced encouraging early results in children with an uncommon but aggressive type of lymphoma, as well as in children with a rare form of neuroblastoma.

17 May 2012

Two CNVs may increase risk of aggressive prostate cancer

An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer.

10 Apr 2012

TGen to present TNBC study at AACR 2012 annual meeting

Because cases of Triple-Negative Breast Cancer (TNBC) are so genetically different, whole-genome sequencing is needed to detect the subtle molecular differences that might point to specific treatments for individual patients.

2 Apr 2012

New technique could restore fertility of boys undergoing cancer treatment

Treatments for childhood cancers are increasingly successful with cure rates approaching 80%, but success often comes with a downside for the surviving men: the cancer treatments they received as boys can leave them sterile as adults. Now, a research team led by Ralph Brinster of the University of Pennsylvania School of Veterinary Medicine has completed a 14-year experiment that gives hope for a technique that could restore their fertility.

29 Mar 2012

Hereditary cancer syndrome predisposes patients to uveal melanoma

Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.

16 Dec 2011

ASH recognizes abstract presenters at 53rd annual meeting in San Diego

The American Society of Hematology (ASH) recognizes the following abstract presenters at the 53rd ASH annual meeting in San Diego, CA, with the highest scoring abstracts in the categories of undergraduate student, medical student, graduate student, resident physician, and postdoctoral fellow.

2 Dec 2011