Genetics News and Research

Latest Genetics News and Research

Normal-weight adults with new-onset diabetes have higher mortality rate

American adults of a normal weight with new-onset diabetes die at a higher rate than overweight/obese adults with the same disease, according to a new Northwestern Medicine study.

8 Aug 2012

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

Scientists discover biological marker that may help identify patients’ response to antidepressants

Scientists have discovered a biological marker that may help to identify which depressed patients will respond to an experimental, rapid-acting antidepressant. The brain signal, detectable by noninvasive imaging, also holds clues to the agent's underlying mechanism, which are vital for drug development, say National Institutes of Health researchers.

7 Aug 2012

New analysis provides overall genetic fingerprint of various Jewish subpopulations

A new genetic analysis focusing on Jews from North Africa has provided an overall genetic map of the Jewish Diasporas. The findings support the historical record of Middle Eastern Jews settling in North Africa during Classical Antiquity, proselytizing and marrying local populations, and, in the process, forming distinct populations that stayed largely intact for more than 2,000 years.

7 Aug 2012

Potential drug targets and prognostic markers for prostate cancer

Two proteins that act in opposing directions - one that promotes cancer and one that suppresses cancer - regulate the same set of genes in prostate cancer, Vanderbilt-Ingram Cancer Center researchers have found.

6 Aug 2012

NeoGenomics introduces new molecular assay that detects SF3B1 gene mutations

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today that it has validated and launched the first molecular assay for clinical use in the United States that detects mutations in the SF3B1 gene (splicing factor 3b, subunit 1).

6 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Individuals with mutations in BRCA1 and BRCA2 genes have a significantly higher risk of developing breast and ovarian cancers. Families at risk have been seeking genetic testing and counseling based on their mutation carrier status, but the standard method of direct sequencing is labor-intensive, costly, and it only targets a part of the BRCA1 and BRCA2 genes.

6 Aug 2012

Human HLA genes are evolving much more rapidly than previously thought

Human HLA genes - the genes that allow our immune system to tell the difference between our own cells and foreign invaders - are evolving much more rapidly than previously thought, according to an article online on August 3rd in Trends in Genetics. The resulting degree of variation improves our ability to fight off disease, but could also present challenges to current worldwide efforts aimed at identifying potential donors for patients undergoing stem cell transplantation.

6 Aug 2012

Researchers uncover 9 new genes associated with bone health

Researchers have uncovered 9 new genes associated with bone health. This collaborative study found clues to the cause of bone disorders such as osteoporosis, osteogenesis imperfecta, and high bone density syndromes by investigating the bone mineral content, strength and flexibility.

3 Aug 2012

Scientists link some cases of Essential Tremor to specific genetic problem

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement.

3 Aug 2012

Possible molecular link between circadian rhythm disturbances and increased inflammatory response

Scientists have known for some time that throwing off the body's circadian rhythm can negatively affect body chemistry. In fact, workers whose sleep-wake cycles are disrupted by night shifts are more susceptible to chronic inflammatory diseases such as diabetes, obesity and cancer.

2 Aug 2012

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

A trio of groundbreaking publications from researchers in Northwestern University's Physical Sciences-Oncology Center (PS-OC) report important methodological advances that will enable a better understanding of how gene expression is regulated, both in normal cells and in cancer cells. This knowledge could lead to the development of more effective therapeutic agents to treat cancer patients.

2 Aug 2012

CAP publishes revised version of molecular pathology checklist with dedicated section on NGS

The College of American Pathologists (CAP) published a revised version of its molecular pathology checklist with a dedicated section on next generation sequencing (NGS) as part of the new edition of the CAP Laboratory Accreditation Program checklists released July 31, 2012.

2 Aug 2012

Link between skeletal development and Fraser syndrome deafness in mammals

Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.

1 Aug 2012

Scientists decode stability blueprint of rhomboid enzyme

Johns Hopkins scientists have decoded for the first time the "stability blueprint" of an enzyme that resides in a cell's membrane, mapping which parts of the enzyme are important for its shape and function.

1 Aug 2012

Gene discovery made for infant-onset blindness

Researchers have discovered that mutations in the NMNAT1 gene encoding nicotinamide mononucleotide adenylyltransferase 1 are present in patients with Leber congenital amaurosis.

1 Aug 2012

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

Biomimetic bioartificial livers and cell toxicity assays: an interview with Dr. Joris Braspenning, CEO Medicyte

Biomimetic bioartificial livers are liver organoids based on synthetic equivalents of the human extracellular matrix (ECM) which will be seeded with human cells.

1 Aug 2012

IL-10 may improve success rates of skin autografts

Scientists have found that the anti-inflammatory molecule, IL-10, may improve success rates of skin autografts (skin moved from one site of the body to another). This information provides a valuable drug target that may benefit burn and accident victims.

1 Aug 2012

Genetics News and Research

Latest Genetics News and Research

Normal-weight adults with new-onset diabetes have higher mortality rate

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

Scientists discover biological marker that may help identify patients’ response to antidepressants

New analysis provides overall genetic fingerprint of various Jewish subpopulations

Potential drug targets and prognostic markers for prostate cancer

NeoGenomics introduces new molecular assay that detects SF3B1 gene mutations

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Human HLA genes are evolving much more rapidly than previously thought

Researchers uncover 9 new genes associated with bone health

Scientists link some cases of Essential Tremor to specific genetic problem

Possible molecular link between circadian rhythm disturbances and increased inflammatory response

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

CAP publishes revised version of molecular pathology checklist with dedicated section on NGS

Link between skeletal development and Fraser syndrome deafness in mammals

Scientists decode stability blueprint of rhomboid enzyme

Gene discovery made for infant-onset blindness

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Biomimetic bioartificial livers and cell toxicity assays: an interview with Dr. Joris Braspenning, CEO Medicyte

IL-10 may improve success rates of skin autografts

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