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Human body is a mosaic pattern of DNA mutations, say researchers

Researchers have discovered that the cells of the human body aren’t clones of a single DNA sequence, but are actually a mosaic of mutations.

7 Jun 2019

Three-drug combination could be effective therapy for people with advanced melanoma

A UCLA-led research team has pinpointed a three-drug combination that could prove to be an effective new therapy for people with a specific type of advanced melanoma.

7 Jun 2019

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

Scientists successfully carry out gene editing in vivo

Scientists at Harvard University have successfully proven that stem cells can be edited inside the body, rather than in a petri dish.

5 Jun 2019

Targeting immune cells could potentially treat some kinds of brain tumor, study suggests

Tumors arise when cells shake off their restraints and start to multiply out of control. But how fast a tumor grows does not depend solely on how quickly the cancer cells can divide, a new study has found.

4 Jun 2019

Gene-editing could shorten life instead of prolonging, suggests new study

In 2018, Chinese scientist He Jiankui defied the law and scientific consensus by boldly editing the CCR5 gene in a human embryo, expecting to confer lifelong HIV resistance. The pregnancy eventually ended in the birth of two baby girls. Now the experiment appears to have gone seriously wrong, perhaps shortening their lives.

4 Jun 2019

Study shows both IDH-mutant WHO-defined molecular subgroups could benefit from PCV chemoradiotherapy

A recent, updated predictive analysis of the three WHO-defined molecular subgroups based on isocitrate dehydrogenase 1/2 (IDH) mutation status and 1p/19q co-deletion status represented in the high-risk treatment arms of the NRG Oncology clinical trial NRG-RTOG 9802 indicates that both IDH-mutant sub-groups (IDHmut-noncodel and IDHmut-codel) could benefit from the addition of PCV chemotherapy to radiotherapy treatment.

3 Jun 2019

Study confirms gut-brain link in autism

People with autism often suffer from gut problems, but nobody has known why. Researchers have now discovered the same gene mutations – found both in the brain and the gut – could be the cause.

31 May 2019

Researchers find link between high LDL cholesterol levels and early-onset Alzheimer's

Researchers with the Atlanta Veterans Affairs Medical Center and Emory University have found a link between high LDL cholesterol levels and early-onset Alzheimer's disease.

29 May 2019

Mutations within junk DNA linked to autism spectrum disorder

Using artificial intelligence, scientists have discovered mutations in parts of non-coding DNA known as “Junk DNA” that can lead to autism.

28 May 2019

Mutations in 'junk' DNA can cause autism, study shows

Leveraging artificial intelligence techniques, researchers have demonstrated that mutations in so-called 'junk' DNA can cause autism.

27 May 2019

Artificial intelligence technique identifies new class of mutations behind autism

Many mutations in DNA that contribute to disease are not in actual genes but instead lie in the 99% of the genome once considered "junk." Even though scientists have recently come to understand that these vast stretches of DNA do in fact play critical roles, deciphering these effects on a wide scale has been impossible until now.

27 May 2019

Researchers discover new function of ribosomes in human cells

Researchers from the Stowers Institute for Medical Research have discovered a new function of ribosomes in human cells that may show the protein-making particle's role in destroying healthy mRNAs, the messages that decode DNA into protein.

26 May 2019

Newly approved gene therapy for SMA is based on delivery vehicle discovered by Penn expert

James Wilson, MD, PhD, recalls being struck by the devastating toll of rare diseases as a young physician in the 1980s. He set out on a path to correct the genes that cause these conditions, including spinal muscle atrophy (SMA), the most common inherited fatal disease in infants.

25 May 2019

Research sheds new light on the function of frequently mutated cancer protein

New research from The Wistar Institute sheds light on the function of the ARID1A protein, encoded by a gene that is among the most frequently mutated across human cancers.

24 May 2019

Researchers develop simple, quick technique for gene editing in rice blast fungus

CRISPR/Cas9 is now a household name associated with genetic engineering studies.

24 May 2019

Zebrafish embryo could help better understand the potential underpinnings of brain disorders

A close look at the rapidly developing zebrafish embryo is helping neuroscientists better understand the potential underpinnings of brain disorders, including autism and schizophrenia.

24 May 2019

Study offers important step to identify cause of blinding disease

Leber hereditary optic neuropathy is an inherited form of vision loss that causes people to have trouble with their color vision and difficulty seeing in the center of their visual field.

24 May 2019

Genetic variation in heart valve cells of developing fetus creates mitral valve prolapse

Genetic variation in heart valve cells of the developing fetus create the blueprint for the later development of mitral valve prolapse, according to the cover story of today's Science Translational Medicine.

23 May 2019

Researchers identify new anti-aging compounds among FDA-approved drugs

Researchers from Gero, Skolkovo Institute of Science and Technology, Moscow Institute of Physics and Technology, and University of Arkansas for Medical Sciences collaborated to derive a transcriptomic signature of aging, which they confirmed using large transcriptomic databases.

23 May 2019

Mutation News and Research

Human body is a mosaic pattern of DNA mutations, say researchers

Three-drug combination could be effective therapy for people with advanced melanoma

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Scientists successfully carry out gene editing in vivo

Targeting immune cells could potentially treat some kinds of brain tumor, study suggests

Gene-editing could shorten life instead of prolonging, suggests new study

Study shows both IDH-mutant WHO-defined molecular subgroups could benefit from PCV chemoradiotherapy

Study confirms gut-brain link in autism

Researchers find link between high LDL cholesterol levels and early-onset Alzheimer's

Mutations within junk DNA linked to autism spectrum disorder

Mutations in 'junk' DNA can cause autism, study shows

Artificial intelligence technique identifies new class of mutations behind autism

Researchers discover new function of ribosomes in human cells

Newly approved gene therapy for SMA is based on delivery vehicle discovered by Penn expert

Research sheds new light on the function of frequently mutated cancer protein

Researchers develop simple, quick technique for gene editing in rice blast fungus

Zebrafish embryo could help better understand the potential underpinnings of brain disorders

Study offers important step to identify cause of blinding disease

Genetic variation in heart valve cells of developing fetus creates mitral valve prolapse

Researchers identify new anti-aging compounds among FDA-approved drugs

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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