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Scientists use stem cells to identify underlying cellular defects that cause Angelman syndrome

Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure.

25 Apr 2017

Genomic Analysis Technologies: Past, Present and Future

In this interview, Jay Flatley, Executive Chairman of Illumina, gives an introduction to Illumina and the next generation genomics tools they provide.

From Pittcon 10 Apr 2017

BPS shows potential for increasing aggressiveness of breast cancer, study finds

Bisphenol S (BPS), a substitute for the chemical bisphenol A (BPA) in the plastic industry, shows the potential for increasing the aggressiveness of breast cancer through its behavior as an endocrine-disrupting chemical, a new study finds.

2 Apr 2017

Heroin use linked to epigenetic alterations in the brain

Heroin use is associated with excessive histone acetylation, an epigenetic process that regulates gene expression, and more years of drug use correlate with higher levels of hyperacetylation, according to research conducted at The Icahn School of Medicine at Mount Sinai and published in the journal Biological Psychiatry.

22 Mar 2017

Diagnosing Infections Through Molecules in Patient Breath

Over the past couple of decades, the analytical technology and the clinical microbiology insight needed to create a breath test for infections has seen a considerable number of advances and there are now numerous research teams focused on evaluating patient breath as a diagnostic fluid for infectious diseases. Significant challenges still need to be overcome.

From Pittcon 27 Feb 2017

Scientists unravel mechanism of rare, early phenomenon that can affect human development

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism.

24 Feb 2017

Cocaine use by fathers may negatively impact cognitive development in male offspring

Fathers who use cocaine at the time of conceiving a child may be putting their sons at risk of learning disabilities and memory loss.

24 Feb 2017

Study provides key insights into intergenerational transmission of obesity

Around 35-40 per cent of a child's BMI - how fat or thin they are - is inherited from their parents, a new study has found.

20 Feb 2017

Children born of fathers exposed to nicotine inherit enhanced chemical tolerance, study shows

A father's nicotine use may have a significant impact on children's risk of some diseases. In a study published in the online biomedical sciences journal eLife, Oliver J. Rando, MD, PhD, and colleagues at UMass Medical School, demonstrate that mice born of fathers who are habitually exposed to nicotine inherit enhanced chemical tolerance and drug clearance abilities.

14 Feb 2017

IDT offers cost-effective and most complete spectrum of CRISPR genome editing systems

Reflecting its drive to provide innovative solutions to the genomics community, Integrated DNA Technologies (IDT) is the first genomics company to develop and bring to market a complete ribonucleoprotein-based Cpf1 CRISPR system.

2 Feb 2017

Researchers discover earliest-acting protein in C-elegans that plays key role in cell division

Researchers from three U.S. universities have identified, using roundworms, the earliest-acting protein known to duplicate the centriole, a tiny cylinder-shaped structure that is a key component of the machinery that organizes cell division in animals.

31 Jan 2017

Johns Hopkins scientists reveal extra centrosomes can promote tumor formation in mice

When a cell is dividing, two identical structures, called centrosomes, move to opposite sides of the cell to help separate its chromosomes into the new cells.

28 Jan 2017

UI biologists discover protein that appears to regulate chromosome movement

Before an egg becomes fertilized, sets of chromosomes must pair up to pass along genetic information. This happens within each reproductive cell, where separate chromosomes of male and female origin move toward each other and eventually join.

25 Jan 2017

Study looks at use of evolutionary triangulation to refine results from genetic studies of preterm birth

In a study to be presented Thursday, Jan. 26, in the oral concurrent session at 1:15 p.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, researchers verified genetic results from one large study of women with spontaneous preterm birth, and highlighted 13 key genes in both mothers and babies which may be involved in preterm birth while also identifying 123 genes as top candidates for further study.

23 Jan 2017

Giving polycystic kidney disease the bump

We launched this campaign at the beginning of October 2016. It's the first time that we've ever had a campaign of this size and scope. It's a European campaign in multiple languages that's coordinated by six of the organizations that represent PKD patients in Europe.

5 Jan 2017

Potential drug could become first effective treatment option for Prader-Willi syndrome

Duke Health researchers have identified a drug-like small molecule that, in animal experiments, appears to be an effective treatment for a genetic disorder called Prader-Willi syndrome.

27 Dec 2016

Inherited CD70 deficiency increases susceptibility to Epstein-Barr virus and EBV-related cancer

Investigators at the National Institutes of Health and international colleagues have identified a genetic immune disorder characterized by increased susceptibility and poor immune control of Epstein-Barr virus (EBV) and, in some cases, an EBV-associated cancer called Hodgkin's lymphoma.

23 Dec 2016

Researchers working to develop pill for inherited bleeding disorders

Motivated by the tribulations of hemophilia patients and their families, researchers funded by the National Institute of Biomedical Imaging and Bioengineering are working to develop a pill to treat this serious inherited bleeding disorder.

23 Dec 2016

UK to officially authorise clinical use of ground-breaking ‘three-person baby IVF’

The United Kingdom will likely this week become the first country to officially authorise clinical use of ground-breaking mitochondrial donation IVF to enable healthy babies to be born to women carrying deadly mitochondrial disease, which starves major organs of energy.

16 Dec 2016

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition.

8 Dec 2016