Whole Genome Sequencing News and Research

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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

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

Doughnut-shaped circles of ecDNA provide tumor cells with a malignant twist

Deoxyribonucleic acid or DNA encodes information, not only in its sequence but also in its shape.

21 Nov 2019

Mining 'darkest' parts of the genome in cancer cells yields gold

Mining the rich uncharted territory of the genome or genetic material of a cancer cell has yielded gold for Princess Margaret scientists: new protein targets for drug development against prostate cancer.

15 Nov 2019

Caution: blood infections traced to probiotics

Probiotics aren’t harmless, says a new study published on November 7, 2019 in the journal Nature Medicine. In fact, some patients may be put at serious risk by the bacteria in probiotics. Doctors should weigh the risks of probiotics in severely ill or immunocompromised patients before prescribing them, as their benefits may be significantly smaller than the danger in such situations.

13 Nov 2019

New study sounds a note of caution in using probiotics in ICU

It's become common for patients in the intensive care unit (ICU), both children and adults, to receive probiotics. Often, they are started at home to counteract diarrhea caused by antibiotics. There is also interest in using probiotics proactively in the ICU. A large multicenter clinical trial in Canada is testing whether probiotics would prevent ventilator-associated pneumonia in adult ICU patients.

12 Nov 2019

Chronic sleep deprivation linked to increased biological aging and cardiovascular disease risk

Getting a good night's sleep is important and insufficient sleep has been linked to poor health in many studies.

11 Nov 2019

Novel detection method for retinoblastoma

A retinoblastoma is a dangerous cancer often occurring in very young children, under 2, which can cause blindness or the loss of the eye. The tumor is a diffuse, gluey mass spread all over the eye. It also spreads easily. As a result of this, direct biopsy is impossible, unlike with most other tumors. Instead, eye examination by ophthalmologists (eye specialists) and ultrasound imaging are needed to make a diagnosis.

5 Nov 2019

Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

Chemotherapy has helped make the most common childhood cancer one of the most curable, but researchers have evidence that the treatment may also prime some patients for relapse.

2 Nov 2019

Improved Cas9 enzyme reduces chance of off-target CRISPR mutations

Genomics experts have discovered that when guide RNAs (gRNA) are designed properly, the risk of off-target mutations induced by the cas9 enzyme is very rare.

30 Oct 2019

Study uses whole-genome sequencing for early identification and containment of AMR pathogens

A study published today in PNAS examines the evolutionary and epidemiologic history of an epidemic strain of extensively drug-resistant tuberculosis (XDR-TB) - called LAM4/KZN- in KwaZulu-Natal, South Africa.

29 Oct 2019

SEPATH: New template to detect oncogenic viruses and bacteria in human DNA

A new study from the University of East Anglia describes a novel approach to detecting bacteria and viruses that may possibly be causing cancer. Many such associations have already been found, such as HPV (human papilloma virus) infection in cervical cancer, and Helicobacter pylori (H. pylori) in stomach cancer.

22 Oct 2019

NCATS funds 'All of Us Research Program' to evaluate innovative DNA sequencing tools

The All of Us Research Program has selected the HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, to evaluate the use of leading-edge DNA sequencing technologies that could someday improve diagnosis and treatment of many diseases, both common and rare.

18 Oct 2019

Researchers reveal mechanism involved in altering DNA methylation in cancer

Understanding the mechanisms that mediate widespread DNA damage in the cancer genome is of great interest to cancer physicians and scientists because it may lead to improved treatments and diagnosis. In this study, a multi-institutional team led by researchers at Baylor College of Medicine has brought attention to genomic structural variation as a previously unappreciated mechanism involved in altering DNA methylation, a form of gene control, in human cancers.

15 Oct 2019

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Sufferers of fatal Batten disease have been given new hope as scientists develop a custom-made oligonucleotide therapy for a young girl.

14 Oct 2019

Researchers develop customized drug treatment to bypass patient’s unique mutation

An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient -- all in less than one year.

11 Oct 2019

New leishmaniasis look-alike parasitic infection reported

A new study published online in the journal Emerging Infectious Diseases describes the appearance of a new protozoan infection carried by insects which causes symptoms that mimic the disease called visceral leishmaniasis, caused by a different parasite.

2 Oct 2019

Brazilian researchers identify new species of parasite in fatal case of visceral leishmaniasis

Brazilian researchers believe they have identified in patients treated at the University Hospital (HU) in Aracaju, state of Sergipe, a new species of parasite that can cause a disease similar to visceral leishmaniasis but is resistant to the treatments currently available.

1 Oct 2019

Deer can pass tuberculosis to humans, CDC warns

Tuberculosis or TB is a highly contagious infection that usually affects the lungs, but it can spread to other parts of the body, such as the spine and brain. Commonly caused by Mycobacterium tuberculosis, which can spread through the air from person to person.

30 Sep 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

27 Sep 2019