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Easing cellular traffic jams in Huntington’s disease may save brain cells

Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center - the nucleus- appear to be a direct cause of brain cell death in Huntington's disease, an inherited adult neurodegenerative disorder.

5 May 2017

International consensus addresses research bottlenecks to diagnose rare genetic diseases

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.

4 May 2017

Scientists uncover thousands of human genes that are expressed differently in the two sexes

Men and women differ in obvious and less obvious ways -- for example, in the prevalence of certain diseases or reactions to drugs. How are these connected to one's sex? Weizmann Institute of Science researchers recently uncovered thousands of human genes that are expressed -- copied out to make proteins -- differently in the two sexes.

4 May 2017

$New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds$

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

A team of researchers of the University of Barcelona and the Hospital del Mar Medical Research Institute have discovered a new mutation that has an impact on the bone so that it is vulnerable to the bisphosphonate, a drug used to treat osteoporosis.

4 May 2017

Gene mutation may accelerate loss of memory and thinking skills in people with Alzheimer's risk

A gene mutation may accelerate the loss of memory and thinking skills in people who are at risk for Alzheimer's disease, according to a study published in the May 3, 2017, online issue of Neurology, the medical journal of the American Academy of Neurology. The gene mutation is called the BDNF Val66Met allele, or just the Met allele.

4 May 2017

Scientists grow and purify earliest lung progenitors from human stem cells

Human lungs, like all organs, begin their existence as clumps of undifferentiated stem cells. But in a matter of months, the cells get organized. They gather together, branch and bud, some forming airways and others alveoli, the delicate sacs where our bodies exchange oxygen for carbon dioxide.

3 May 2017

Myriad and Clovis ink deal on FDA-approved BRACAnalysis CDx test to identify patients with germline BRCA mutations for rucaparib treatment

Myriad Genetics, Inc. and Clovis Oncology, Inc. have announced a companion diagnostic collaboration to support a post-marketing regulatory commitment related to Clovis’ PARP inhibitor, Rubraca. Financial terms of the deal were not disclosed.

3 May 2017

Invivoscribe receives FDA approval for the LeukoStrat CDx FLT3 mutation assay companion diagnostic test for the selection of patients for Rydapt

Invivoscribe® Technologies Inc., a global company with more than 20 years of experience providing clonality and biomarker test solutions for the fields of oncology, personalized molecular diagnostics® and personalized molecular medicine®, today announces the premarket approval of LeukoStrat® CDx FLT3 Mutation Assay.

3 May 2017

Researchers uncover new potential target for treating spinal muscular atrophy

Though spinal muscular atrophy in its most severe form remains incurable and fatal in early childhood, researchers are sustaining a multipronged counterattack for patients and their families. The first treatment for the disease gained U.S. market approval in December.

2 May 2017

Mayo Clinic scientists develop novel nanoparticle to shrink tumors, prevent breast cancer recurrence

A Mayo Clinic research team has developed a new type of cancer-fighting nanoparticle aimed at shrinking breast cancer tumors, while also preventing recurrence of the disease.

2 May 2017

Scientists launch new virtual platform to aid global search for treatment of leukemia

Finding a cure for a rare type of blood cancer could be accelerated by a new virtual platform that allows researchers easy access to data from patient samples generated by laboratories around the world.

29 Apr 2017

Study describes new targets for precision treatment of meningiomas

Winner of the Integra Foundation Award, Mark W. Youngblood, presented his research, Clinical and Molecular Features of Genomic Subgroups in Meningioma, during the 2017 American Association of Neurological Surgeons Annual Scientific Meeting.

29 Apr 2017

China creates new kinase-based whole-cell screening library for high-throughput drug assay

After five years of hard work, China has completed the world's largest kinase-based whole-cell screening library for high-throughput drug assay.

28 Apr 2017

FDA approves new drug and chemotherapy combination for treatment of adult patients with AML

The U.S. Food and Drug Administration today approved Rydapt (midostaurin) for the treatment of adult patients with newly diagnosed acute myeloid leukemia who have a specific genetic mutation called FLT3, in combination with chemotherapy.

28 Apr 2017

VUMC researcher receives grant to test efficacy of drug for reversing precancerous stomach lesions

Vanderbilt University Medical Center cancer researcher James Goldenring, M.D., Ph.D., has received a two-year, $200,000 grant from the DeGregorio Family Foundation in Pleasantville, New York, to begin clinical trials of a potential approach for reversing precancerous stomach lesions.

28 Apr 2017

New technique dramatically accelerates search for new cancer treatments

A new technique developed at the University of Virginia School of Medicine will let a single cancer research lab do the work of dozens, dramatically accelerating the search for new treatments and cures.

26 Apr 2017

Study underscores need for genetic screening to improve safety of experimental stem cell treatments

Regenerative medicine using human pluripotent stem cells to grow transplantable tissue outside the body carries the promise to treat a range of intractable disorders, such as diabetes and Parkinson's disease.

26 Apr 2017

Research shows how TET2 protein loss can open door for mutations that drive blood cancers

Imagine this scenario on a highway: A driver starts to make a sudden lane change but realizes his mistake and quickly veers back, too late. Other motorists have already reacted and, in some cases, collide. Meanwhile, the original motorist - the one who caused the problem - drives on.

25 Apr 2017

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Whole-exome DNA sequencing -- a technology that saves time and money by sequencing only protein-coding regions and not the entire genome -- may routinely miss detecting some genetic variations associated with disease, according to Penn State researchers who have developed new ways to identify such omissions.

24 Apr 2017

Researchers discover gene that may play role in restoring hearing after noise exposure

Researchers have discovered that a protein implicated in human longevity may also play a role in restoring hearing after noise exposure. The findings, where were published in the journal Scientific Reports, could one day provide researchers with new tools to prevent hearing loss.

24 Apr 2017

Mutation News and Research

Easing cellular traffic jams in Huntington’s disease may save brain cells

International consensus addresses research bottlenecks to diagnose rare genetic diseases

Scientists uncover thousands of human genes that are expressed differently in the two sexes

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

Gene mutation may accelerate loss of memory and thinking skills in people with Alzheimer's risk

Scientists grow and purify earliest lung progenitors from human stem cells

Myriad and Clovis ink deal on FDA-approved BRACAnalysis CDx test to identify patients with germline BRCA mutations for rucaparib treatment

Invivoscribe receives FDA approval for the LeukoStrat CDx FLT3 mutation assay companion diagnostic test for the selection of patients for Rydapt

Researchers uncover new potential target for treating spinal muscular atrophy

Mayo Clinic scientists develop novel nanoparticle to shrink tumors, prevent breast cancer recurrence

Scientists launch new virtual platform to aid global search for treatment of leukemia

Study describes new targets for precision treatment of meningiomas

China creates new kinase-based whole-cell screening library for high-throughput drug assay

FDA approves new drug and chemotherapy combination for treatment of adult patients with AML

VUMC researcher receives grant to test efficacy of drug for reversing precancerous stomach lesions

New technique dramatically accelerates search for new cancer treatments

Study underscores need for genetic screening to improve safety of experimental stem cell treatments

Research shows how TET2 protein loss can open door for mutations that drive blood cancers

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Researchers discover gene that may play role in restoring hearing after noise exposure

Industry Focus eBook - Neurology/Neuroscience - 2nd edition eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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