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Discovery on new form ETV6-related thrombocytopenia presented at EHA Annual Congress

We recently discovered a new form of an inherited deficiency of platelets, which is caused by mutations in the ETV6-gene.

13 Jun 2016

New research offers more insights into development of Kennedy's disease

Kennedy's disease leads to progressive muscle wastage. It is a condition that affects only men and it appears between 40 and 50 years of age. There is no specific treatment available.

13 Jun 2016

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

A new study in zebrafish suggests that irregular fluid flow through the spinal column brought on by gene mutations is linked to a type of scoliosis that can affect humans during adolescence.

13 Jun 2016

Controlling corneal blindness by 2030: an interview with Dr Pravin Vaddavalli

Corneal blindness is estimated to be the second most prevalent cause of blindness in many less developed countries. Globally, bilateral corneal blindness is estimated to afflict 4.9 million persons and accounts for 12% of 39 million blind, utilizing WHO 2010 global blindness data.

13 Jun 2016

About 30% of iPSCs not safe for clinical use, report multi-institutional researchers

As the promise of using regenerative stem cell therapies draws closer, a consortium of biomedical scientists reports about 30 percent of induced pluripotent stem cells they analyzed from 10 research institutions were genetically unstable and not safe for clinical use.

10 Jun 2016

RNA editing enzyme ADAR1 may play role in regeneration of leukemia stem cells

Cancer stem cells are like zombies — even after a tumor is destroyed, they can keep coming back. These cells have an unlimited capacity to regenerate themselves, making more cancer stem cells and more tumors.

10 Jun 2016

Study captures interactions of HIV-infected immune cells in living animal

By watching brightly glowing HIV-infected immune cells move within mice, researchers at the Icahn School of Medicine at Mount Sinai have shown how infected immune cells latch onto an uninfected sister cell to directly transmit newly minted viral particles.

10 Jun 2016

Utah researchers find way to use power of protease to destroy budding AIDS virus

When new AIDS virus particles bud from an infected cell, an enzyme named protease activates to help the viruses mature and infect more cells. That's why modern AIDS drugs control the disease by inhibiting protease.

10 Jun 2016

Lack of signaling protein CXCR4 may halt cancer development

Zebrafish-human communication shows that cancer cells lacking a signaling protein are less able to develop aggressive metastatic properties.

10 Jun 2016

Intrinsic subtyping of breast cancer can aid prognosis, treatment of tumor patients

Published in JAMA Oncology, Principal Investigator of Vall d´Hebron Institute of Oncology´s Translational Genomics Group, Team Leader of translational genomics and targeted therapeutics in solid tumors at the August Pi I Sunyer Biomedical Research Institute, and Head of Medical Oncology at the Hospital Clínic in Barcelona, Aleix Prat has led a study showing the intrinsic subtyping of breast cancer by means of a genomic test as the most important prognostic factor in advanced or metastatic hormone-sensitive breast cancer.

10 Jun 2016

Tackling Healthcare Challenges in a Changing World: an Interview with Professor Jeremy Nicholson

As individuals and as populations our risks of getting diseases are determined partly genetically and partly from the environment that we live in. An important part of that environment that mediates between the outside world and the inside world of our bodies is the microbiome.

10 Jun 2016

Type 1 diabetes occurs more frequently in patients with JIA

The results of a study involving more than 9,000 patients, presented today at the European League Against Rheumatism Annual Congress showed that Type 1 diabetes occurs significantly more frequently in patients with Juvenile Inflammatory Arthritis (JIA) than in the general population.

10 Jun 2016

Scientists discover new ZBTB7A gene mutation that promotes growth of cancer cells

Biomarkers play an important role in modern cancer medicine. They are used as tools to diagnose cancers more precisely and to better predict the course of the disease.

10 Jun 2016

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

University of Kansas researchers have been awarded a five-year, $2.4 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to study the effects of parenting on the development and behavior of adolescents with Fragile X syndrome, a single-gene disorder that is the most common cause of inherited developmental disability and the leading genetic cause of autism.

9 Jun 2016

PD surgery improves quality of life in patients with malignant pleural mesothelioma

Although surgery can prolong the lives of patients with an aggressive type of cancer called malignant pleural mesothelioma, many patients avoid the operation for fear it will degrade their quality of life.

9 Jun 2016

UCLA scientists develop statistical method for conducting survival analysis of cancer patients

People with cancer are often told by their doctors approximately how long they have to live, and how well they will respond to treatments, but what if there were a way to improve the accuracy of doctors' predictions?

9 Jun 2016

Study provides insights into new pathways to generate universal vaccine against influenza viruses

Diverse antibodies induced in humans by vaccination with an avian influenza virus vaccine may offer broader, more durable protection against multiple strains of influenza than today's vaccines typically provide, according to a study led by Florian Krammer, PhD, Assistant Professor in the Department of Microbiology at the Icahn School of Medicine at Mount Sinai, and Patrick Wilson, PhD, Associate Professor in the Department of Medicine at the University of Chicago.

9 Jun 2016

Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Much of basic cancer research is based on studies with cultured cancer cells. However, the usefulness of these studies greatly depends on how accurately these cancer cells grown in a dish represent human tumors.

9 Jun 2016

Old database sheds new light on biological concept that affects human reproductive patterns

When predicting future global population growth, sometimes scientists look to the past. Using a database with historical records that began in 871 A.D., an anthropologist at the University of Missouri was able to show reproductive patterns and shed new light on the "quantity-quality" trade-off, a biological concept used to describe a parent's unconscious decisions to balance between the time and financial investment needed to produce offspring.

9 Jun 2016

New paediatric exoskeleton aims to support children with spinal muscular atrophy

Furthermore, it will also be used in physiotherapy in hospitals to prevent the secondary effects associated with the loss of mobility in this illness. The technology, which has been patented and licensed jointly by CSIC and its technology-based business unit, Marsi Bionics, is currently in the preclinical phase.

9 Jun 2016

Genetic News and Research

Discovery on new form ETV6-related thrombocytopenia presented at EHA Annual Congress

New research offers more insights into development of Kennedy's disease

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

Controlling corneal blindness by 2030: an interview with Dr Pravin Vaddavalli

About 30% of iPSCs not safe for clinical use, report multi-institutional researchers

RNA editing enzyme ADAR1 may play role in regeneration of leukemia stem cells

Study captures interactions of HIV-infected immune cells in living animal

Utah researchers find way to use power of protease to destroy budding AIDS virus

Lack of signaling protein CXCR4 may halt cancer development

Intrinsic subtyping of breast cancer can aid prognosis, treatment of tumor patients

Tackling Healthcare Challenges in a Changing World: an Interview with Professor Jeremy Nicholson

Type 1 diabetes occurs more frequently in patients with JIA

Scientists discover new ZBTB7A gene mutation that promotes growth of cancer cells

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

PD surgery improves quality of life in patients with malignant pleural mesothelioma

UCLA scientists develop statistical method for conducting survival analysis of cancer patients

Study provides insights into new pathways to generate universal vaccine against influenza viruses

Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Old database sheds new light on biological concept that affects human reproductive patterns

New paediatric exoskeleton aims to support children with spinal muscular atrophy

Sequencing & Genomics: Elevating Science and Healthcare 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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