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Researchers identify rare genetic disorder

A team of South Australian researchers has cracked a rare gene variant for a disorder that sees a normal healthy child start to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language.

16 Dec 2019

The evidence for BRCA1/2 or any genetic testing in breast cancer patients

A new statement by the American College of Medical Genetics and Genomics (ACMG), published in the journal Genetics in Medicine, discusses the place of germline genetic testing in breast cancer patients.

15 Dec 2019

Researchers identify novel genes associated with severity of peanut allergy

Researchers at the Icahn School of Medicine at Mount Sinai have identified novel genes associated with the severity of peanut allergy, as well as ways in which these genes interact with other genes during allergic reactions.

14 Dec 2019

Points to consider: Should germline genetic testing be offered to all patients with breast cancer?

Should germline genetic testing be offered to all patients with breast cancer? The American College of Medical Genetics and Genomics addresses this important question in a new statement published in Genetics in Medicine, "Points to Consider: Is There Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for All Breast Cancer Patients? A Statement of the American College of Medical Genetics and Genomics."

13 Dec 2019

Horizon Discovery adds predesigned synthetic single guide RNA to its product range

Horizon Discovery Group plc, a global leader in the application of gene editing and gene modulation technologies, today announced the addition of predesigned synthetic single guide RNA (sgRNA) to its product range.

From Revvity 13 Dec 2019

Human genetics evidence predictive of drug development success, study shows

A new drug candidate is more likely to be approved for use if it targets a gene known to be linked to the disease; a finding that can help pharmaceutical companies to focus their drug development efforts.

From PLOS ONE 13 Dec 2019

Online decision aid provides more knowledge about the benefits of genomic sequencing

A decision aid developed to support patients undergoing genomic sequencing can reduce the amount of time patients spend speaking with overburdened genetic counselors while helping them were more knowledgeable about the benefits of sequencing, suggests a study from St. Michael's Hospital.

10 Dec 2019

Modifier gene offers a likely explanation for less infection in some patients with cystic fibrosis

Cystic fibrosis is caused by an inherited mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

10 Dec 2019

Study provides most detailed classification of acute myeloid leukemia, myelodysplastic syndrome

Results from a study conducted by St. Jude Children's Research Hospital and the Munich Leukemia Laboratory were presented today as a late-breaking abstract at the American Society of Hematology annual meeting. The study integrates genomic and transcriptomic sequencing to provide the most detailed classification of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) to date.

10 Dec 2019

Combination regimen shows promising results in preclinical models of triple negative breast cancer

Tumor volume in a preclinical model of triple negative breast cancer (TNBC) was reduced four times more when an experimental polo-like kinase 1 (PLK1) inhibitor was combined with a standard-of-care chemotherapeutic agent than when the agent was used alone.

10 Dec 2019

Rutgers researchers identify small mutations for AML and MDS through deep DNA sequencing

Deep DNA sequencing analysis conducted by Rutgers Cancer Institute of New Jersey investigators examining genomic differences within tumors for prediction of disease relapse in certain hematologic malignancies has identified small mutations.

9 Dec 2019

Mapping genetic links between diseases using data from electronic health records

Physicians use standard disease classifications based on symptoms or location in the body to help make diagnoses. These classifications, called nosologies, can help doctors understand which diseases are closely related, and thus may be caused by the same underlying issues or respond to the same treatments.

9 Dec 2019

Thermo Fisher Scientific to accelerate genomic profiling process in hematology and oncology labs

Clinical researchers who take a traditional sequential approach to analyze myeloid malignancies, a highly heterogeneous group of disorders, face a major hurdle: a laborious and time-consuming workflow.

From Thermo Fisher Scientific Inc. 9 Dec 2019

Mount Sinai receives $1 million grant to advance understanding of prostate cancer

The Milton and Carroll Petrie Department of Urology at the Icahn School of Medicine at Mount Sinai has received a $1 million grant from The Arthur M. Blank Family Foundation.

5 Dec 2019

Overabundance of novel gene in aggressive form of ovarian cancer may serve as prognostic tool

Investigators at Rutgers Cancer Institute of New Jersey have determined that an overabundance of a novel gene known as ADNP in an aggressive form of ovarian cancer may serve as a prognostic tool.

5 Dec 2019

DNA testing for siblings of children with ASD may be predictive of future diagnosis

One of the key priorities of interventions for autism spectrum disorder (ASD) is starting early, with some evidence showing infants as young as seven months old could benefit.

5 Dec 2019

GW-led consortium receives $2.2 million from FDA for Biocompute Object Specification Project

A consortium led by the George Washington University (GW) has been refunded for their BioCompute Object Specification Project, thanks to a $2.2 million, five-year grant from the U.S. Food and Drug Administration.

4 Dec 2019

Cleveland Clinic to study ecological, evolutionary mechanisms that contribute to lung cancer

Jacob Scott, M.D., Ph.D., a physician researcher from Cleveland Clinic's Department of Translational Hematology and Oncology Research, recently received a $2.8 million grant from the National Cancer Institute, part of the National Institutes of Health, to study how ecological and evolutionary mechanisms contribute to lung cancer development and progression, and how the interplay between these mechanisms may provide novel treatment insights.

4 Dec 2019

Discovery could offer insight into different risk of diseases in African Americans

The percentage of African ancestry in a person's genome determines the level that certain genes are expressed, called mRNA, according to a new Northwestern Medicine study.

3 Dec 2019

Unexpected versatility of an ancient DNA repair factor revealed

If a bone breaks or a tendon snaps, you know to seek treatment immediately. But your most fragile and precious cellular commodity, chromosomal DNA, breaks with astounding frequency- some estimate as many as 10,000 times a day per cell- usually without consequence.

2 Dec 2019

Genomic News and Research

Researchers identify rare genetic disorder

The evidence for BRCA1/2 or any genetic testing in breast cancer patients

Researchers identify novel genes associated with severity of peanut allergy

Points to consider: Should germline genetic testing be offered to all patients with breast cancer?

Horizon Discovery adds predesigned synthetic single guide RNA to its product range

Human genetics evidence predictive of drug development success, study shows

Online decision aid provides more knowledge about the benefits of genomic sequencing

Modifier gene offers a likely explanation for less infection in some patients with cystic fibrosis

Study provides most detailed classification of acute myeloid leukemia, myelodysplastic syndrome

Combination regimen shows promising results in preclinical models of triple negative breast cancer

Rutgers researchers identify small mutations for AML and MDS through deep DNA sequencing

Mapping genetic links between diseases using data from electronic health records

Thermo Fisher Scientific to accelerate genomic profiling process in hematology and oncology labs

Mount Sinai receives $1 million grant to advance understanding of prostate cancer

Overabundance of novel gene in aggressive form of ovarian cancer may serve as prognostic tool

DNA testing for siblings of children with ASD may be predictive of future diagnosis

GW-led consortium receives $2.2 million from FDA for Biocompute Object Specification Project

Cleveland Clinic to study ecological, evolutionary mechanisms that contribute to lung cancer

Discovery could offer insight into different risk of diseases in African Americans

Unexpected versatility of an ancient DNA repair factor revealed

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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