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UK Biobank genetic study shows link between lung disease and smoking behaviour

New research published in The Lancet Respiratory Medicine and presented at this year's European Respiratory Society meeting in Amsterdam presents the first analyses of genetic data from the UK Biobank that reveal new associations with lung disease and smoking behaviour.

28 Sep 2015

Two-drug combination improves progression-free survival in patients with advanced melanoma

Patients with advanced melanoma skin cancer survive for longer without their disease progressing if they have been treated with a combination of two drugs, nivolumab and ipilimumab, than with either of these drugs alone. New results show that these patients also do better regardless of their age, stage of disease and whether or not they have a cancer-driving mutation in the BRAF gene.

28 Sep 2015

Genetic mutations predict breast cancer relapse

A large genetics study has identified genetic mutations specific to recurrent breast cancer cells. Screening for these mutations in breast cancer tumours could therefore allow doctors to identify patients most at risk of their cancer returning. The relevant genes can then be targeted to prevent recurrence of the cancer.

27 Sep 2015

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

A few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS).

26 Sep 2015

Researchers develop methodology to monitor changes in DNA methylation patterns in individual cells

Whitehead Institute researchers have developed a methodology to monitor changes in DNA methylation over time in individual cells.

26 Sep 2015

New report sets out plans to improve cure rate, quality of life for childhood cancer survivors in Europe

Each year in Europe, 6,000 young people die from cancer, and two-thirds of those who survive suffer from treatment-related side effects. Although there has been considerable progress in the treatment of childhood cancers over the past few decades, and cancer in childhood is rare, these are major problems that need to be overcome, says a report from SIOPE, the European Society for Paediatric Oncology, launched at the 2015 European Cancer Congress today.

26 Sep 2015

Discovery may lead to global battle against malaria

Tropical medicine experts from Tübingen have discovered malaria parasites of the Plasmodium brasilianum species in Yanomami indigenous Indians on the border between Venezuela and Brazil. These had only been found in monkeys in the past. The parasites are also described as quartan plasmodia, as they cause outbreaks of fever every four days. The infection can lead to complications and chronic sicknesses.

26 Sep 2015

Soft palate study reveals how flu viruses acquire the ability to move between people

National Institutes of Health scientists and their colleagues identified a previously unappreciated role for the soft palate during research to better understand how influenza (flu) viruses acquire the ability to move efficiently between people.

26 Sep 2015

New study heightens concerns over detrimental impact of air pollution on gene associated with AD risk

A new study by researchers at the Universities of Montana, Valle de México, Boise State, and North Carolina, the Centro de Ciencias de la Atmósfera, Universidad Nacional Autónoma de México, Instituto Nacional de Pediatría, and Centro Médico Cozumel heightens concerns over the detrimental impact of air pollution on hippocampal metabolites as early markers of neurodegeneration in young urbanites carrying an allele 4 of the apolipoprotein E gene (APOE).

26 Sep 2015

Keck School of Medicine of USC researcher wins first Hearst Fellowship

Albert D. Kim, Ph.D., a postdoctoral fellow at the Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research at the University of Southern California, is the first Keck School of Medicine of USC researcher to win a Hearst Fellowship for his work investigating how to turn stem cells into nephrons, the functional units of the kidney.

26 Sep 2015

Scientists identify different CRISPR system with potential to advance genetic engineering

A team including the scientist who first harnessed the revolutionary CRISPR-Cas9 system for mammalian genome editing has now identified a different CRISPR system with the potential for even simpler and more precise genome engineering.

26 Sep 2015

Scientists compile complete genetic information of people affected by PAH

The genetic architecture of a debilitating and potentially fatal vascular disease has for the first time been detailed in its entirety, providing clinicians with the comprehensive data needed to improve diagnosis and deliver more personalised patient care.

25 Sep 2015

UCSF researchers map genetic signature of unusual stem cells in the human brain

The human cerebral cortex contains 16 billion neurons, wired together into arcane, layered circuits responsible for everything from our ability to walk and talk to our sense of nostalgia and drive to dream of the future. In the course of human evolution, the cortex has expanded as much as 1,000-fold, but how this occurred is still a mystery to scientists.

25 Sep 2015

Matchmaker Exchange platform launched for uncovering rare disease genes

In a special issue of Human Mutation, a team including investigators at Brigham and Women's Hospital has announced the launch of the Matchmaker Exchange - a way for the rare disease community to share information and find new connections. Matchmaker Exchange connects databases of genetic information and symptoms that physicians and investigators can "match" with a patient's rare disease.

25 Sep 2015

Researchers develop chip-based instrument for reliable detection of Ebola virus

A team led by researchers at UC Santa Cruz has developed chip-based technology for reliable detection of Ebola virus and other viral pathogens. The system uses direct optical detection of viral molecules and can be integrated into a simple, portable instrument for use in field situations where rapid, accurate detection of Ebola infections is needed to control outbreaks.

25 Sep 2015

HSCI researchers find surprising similarities between SMA and ALS

Harvard Stem Cell Institute researchers studying spinal muscular atrophy (SMA) have found what they term "surprising similarities" between this childhood disorder that attacks motor neurons and amyotrophic lateral sclerosis (ALS), more commonly known as Lou Gehrig's disease.

25 Sep 2015

Brain & Behavior Research Foundation announces recipients of NARSAD Young Investigator Grants

The Brain & Behavior Research Foundation today announced the award of its NARSAD Young Investigator Grants valued at more than $13 million to 191 of the world's most promising young scientists.

24 Sep 2015

Protein-coding gene identified as tumor suppressor for acute myeloid leukemia

A protein-coding gene called hnRNP K has been identified as a tumor suppressor for acute myeloid leukemia (AML), a finding that could be important for investigating how best to target treatment of a blood cancer striking mostly older individuals.

24 Sep 2015

Pabetalone (RVX-208) to be tested in proof-of-concept pilot study in complement mediated diseases

Resverlogix Corp. announced today the commencement of an Orphan Disease Program specific for Complement Mediated Diseases. New data generated by Resverlogix has demonstrated that BET inhibition by apabetalone (RVX-208) has effects on multiple biological pathways that underlie disease pathology.

24 Sep 2015

Rhythm Metabolic awarded FDA grant to advance ongoing setmelanotide clinical trial in Prader-Willi syndrome

Rhythm announced today the award of a $1 million research grant from the FDA Office of Orphan Products Development to its subsidiary, Rhythm Metabolic, Inc., to support the ongoing Phase 2 clinical trial of setmelanotide, the company's novel peptide MC4 agonist, for the treatment of obesity and hyperphagia in Prader-Willi syndrome (PWS).

24 Sep 2015

Genetic News and Research

UK Biobank genetic study shows link between lung disease and smoking behaviour

Two-drug combination improves progression-free survival in patients with advanced melanoma

Genetic mutations predict breast cancer relapse

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

Researchers develop methodology to monitor changes in DNA methylation patterns in individual cells

New report sets out plans to improve cure rate, quality of life for childhood cancer survivors in Europe

Discovery may lead to global battle against malaria

Soft palate study reveals how flu viruses acquire the ability to move between people

New study heightens concerns over detrimental impact of air pollution on gene associated with AD risk

Keck School of Medicine of USC researcher wins first Hearst Fellowship

Scientists identify different CRISPR system with potential to advance genetic engineering

Scientists compile complete genetic information of people affected by PAH

UCSF researchers map genetic signature of unusual stem cells in the human brain

Matchmaker Exchange platform launched for uncovering rare disease genes

Researchers develop chip-based instrument for reliable detection of Ebola virus

HSCI researchers find surprising similarities between SMA and ALS

Brain & Behavior Research Foundation announces recipients of NARSAD Young Investigator Grants

Protein-coding gene identified as tumor suppressor for acute myeloid leukemia

Pabetalone (RVX-208) to be tested in proof-of-concept pilot study in complement mediated diseases

Rhythm Metabolic awarded FDA grant to advance ongoing setmelanotide clinical trial in Prader-Willi syndrome

eBook: Using iPSCs models for human disease research and drug discovery 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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