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Brown University researchers reveal key physical properties of 'giant' cancer cells

Polyploidal cancer cells--cells that have more than two copies of each chromosome--are much larger than most other cancer cells, are resistant to chemotherapy and radiation treatments and are associated with disease relapse.

14 Aug 2018

FDA approves first oral medication for treatment of adults with Fabry disease

The U.S. Food and Drug Administration today approved Galafold (migalastat), the first oral medication for the treatment of adults with Fabry disease.

10 Aug 2018

Koala virus could provide clues to accumulated 'junk' DNA in the human genome

A koala virus could help researchers explain millions of years of accumulated ‘junk’ DNA in the human genome.

10 Aug 2018

Study finds false negatives in common tests used to determine ROS1 status in lung cancer

Drugs like crizotinib are used to treat patients with ROS1-positive lung cancer. But which patients are ROS1-positive? A University of Colorado Cancer Center study published in the Journal of Thoracic Oncology shows that common laboratory tests used to determine ROS1 status all have inherent limitations that can lead to false-negative results.

9 Aug 2018

Genetic testing before embryo transfer makes no difference to live birth rates

The genetic screening of fertilized eggs for embryo selection in assisted reproduction makes no difference to live birth rates, according to results from the largest published study of its kind.

6 Aug 2018

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

Elijah Patino is a happy, healthy seven-year-old now, but it took a while to get there. For much of his life, he had a mysterious disease that made it painful to eat and painful to play.

2 Aug 2018

MGH researchers explore how genetic abnormality in Ewing sarcoma unleashes tumor growth

A Massachusetts General Hospital research team has used epigenome editing tools to investigate how the genetic abnormality that drives Ewing sarcoma - the second most common bone cancer in children and young adults - unleashes tumor growth.

2 Aug 2018

Researchers identify genes linked to childhood nephrotic syndrome

Childhood nephrotic syndrome is the most frequently occurring chronic kidney disease among children. A Japanese research team has identified a group of genes that are strongly related to the development of childhood nephrotic syndrome.

27 Jul 2018

Answer to decades-old mystery may allow some children to avoid bone marrow transplantation

Researchers have helped solve a decades-old mystery about which mutations are responsible for an inherited bone marrow disorder.

27 Jul 2018

New mouse model shows great promise for Rett syndrome research

In an article released today from Jeannie T. Lee, MD PhD of Massachusetts General Hospital, there is hope on the horizon for future research specific to Rett syndrome, a rare childhood neurodevelopmental disorder.

26 Jul 2018

Researchers study whole genome sequences of human induced pluripotent stem cells

The therapeutic potential of human induced pluripotent stem cells, which are capable of becoming almost any type of cell in the human body, is well-recognized and broadly pursued, but their mutational burden has not been fully characterized yet.

25 Jul 2018

Mutated gene linked to 3-year-old girl's severe neurological symptoms

A young girl with severe neurological symptoms finally has a diagnosis, following the discovery by the Translational Genomics Research Institute of a genetic mutation that likely caused the girl to experience a cascade of symptoms.

24 Jul 2018

Researchers uncover cause for progression of prostate cancer to incurable stage

Researchers at the University of Oulu in Finland have discovered novel genes and mechanisms that can explain how a genomic variant in a single nucleotide polymorphism rs11672691 influences prostate cancer aggressiveness.

20 Jul 2018

Researchers raise viability of cloned mice using somatic cell nuclear transfer method

An international group of researchers have raised the viability of mice that were cloned using a method called somatic cell nuclear transfer, by stimulating two epigenetic factors, and by doing this have shown that creating cloned animals more efficiently will require further work in the area of epigenetics.

20 Jul 2018

Study findings highlight importance of early detection of SMA through newborn screening

Spinal muscular atrophy is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impair swallowing and breathing.

17 Jul 2018

Researchers solve mystery of final blood group system

Ever since the blood type was discovered in 1962, no one has been able to explain why some people become Xga positive while others are Xga negative.

16 Jul 2018

Research sheds on how new species may arise from rapid mitochondrial evolution

Genetic research at Oregon State University has shed new light on how isolated populations of the same species evolve toward reproductive incompatibility and thus become separate species.

13 Jul 2018

New findings refine link between clonal hematopoiesis and blood cancer risk

It's a common occurrence in elderly people: Blood cells carrying mutated DNA explosively increase in number, resulting in genetic "mosaicism": the presence of a population of cells that carries an altered genome.

12 Jul 2018

Researchers uncover molecular drivers of a deadly pediatric cancer

Researchers have made important discoveries about the molecular mechanisms driving acute myeloid leukemia (AML), a deadly pediatric cancer.

11 Jul 2018

Researchers unmask functioning of protein involved in DNA repair during spermatogenesis

Researchers from the Department of Cell Biology, Physiology and Immunology and the Institute for Biotechnology and Biomedicine of the Universitat Autònoma de Barcelona have unmasked the functioning of a protein involved in DNA repair, ATR, in the meiotic recombination process which takes place during the development of spermatocytes - sperm precursor cells- and how inhibiting this protein causes anomalies which block spermatogenesis.

9 Jul 2018