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Immune-related enzymes cause aggressive skin cancer in patients with Butterfly Syndrome

Patients with a rare skin disease, commonly called Butterfly Syndrome, that causes chronic blistering and extensive scarring also develop an aggressive and fatal form of cancer early in life.

28 Aug 2018

$Study: Microvascular dysfunction can be major cause of heart failure with preserved ejection fraction$

Study: Microvascular dysfunction can be major cause of heart failure with preserved ejection fraction

Microvascular dysfunction, or small vessel disease, can be an important cause of heart failure with preserved ejection fraction (preserved pumping capacity), an international team including researchers from Karolinska Institutet and AstraZeneca report in a study published in The European Heart Journal.

27 Aug 2018

Changes in TRPV3 genes may have helped mammoths withstand lower temperatures

Columbia University biomedical researchers have captured close-up views of TRPV3, a skin-cell ion channel that plays important roles in sensing temperature, itch, and pain.

25 Aug 2018

Researchers find new therapy to prevent drug resistance for melanoma patients

Mount Sinai researchers have discovered a previously unknown reason for drug resistance in a common subtype of melanoma, one of the deadliest forms of cancer, and in turn, have found a new therapy that could prevent or reverse drug resistance for melanoma patients with a particular gene mutation, according to a study published in Nature Communications in August.

24 Aug 2018

MDA announces 34 new grants totaling $9.9 million to accelerate neuromuscular research

The Muscular Dystrophy Association today announced the award of 34 new grants totaling more than $9.9 million for its summer round of funding. These new grants represent a continued commitment by MDA to fund groundbreaking research that will accelerate treatments and cures for the more than 40 diseases in its program.

24 Aug 2018

Researchers describe how RNA polymerase detects UV light damage in DNA

Damage to DNA is a constant threat to cellular life, and so it is constantly monitored and detected by a family of enzymes called RNA polymerases, resulting in subsequent repair to maintain genome integrity.

23 Aug 2018

Scientists publish study results of AAV therapy product for treatment of RHO-adRP

Ophthotech Corporation announced today that scientists at the University of Pennsylvania and University of Florida published proof-of-concept study results on an adeno-associated virus gene therapy product candidate for the treatment of rhodopsin-mediated autosomal dominant retinitis pigmentosa licensed by Ophthotech.

22 Aug 2018

Researchers develop faster method to grow brain cells from stem cells

Researchers at Lund University in Sweden have developed a faster method to generate functional brain cells, called astrocytes, from embryonic stem cells. Astrocytes play a significant role in neurodegenerative diseases.

22 Aug 2018

Researchers identify genes responsible for inherited breast cancer in Nigerian women

For the first time, DNA contributed by Sub-Saharan African women has been thoroughly evaluated with innovative genomics technology in an effort to understand the genetic bases for breast cancer in African populations.

22 Aug 2018

Scientists report novel gene therapy that halts vision loss in canine model of blinding disease

Scientists funded by the National Eye Institute report a novel gene therapy that halts vision loss in a canine model of a blinding condition called autosomal dominant retinitis pigmentosa (adRP). The strategy could one day be used to slow or prevent vision loss in people with the disease. NEI is part of the National Institutes of Health.

21 Aug 2018

Genome sequences of ape parasites provide insights on origin and early evolution of malaria

The genome sequences of ape parasites related to Plasmodium vivax (P. vivax), the main source of mosquito-borne malaria outside Africa, provide insights on the origin and early evolution of the human parasite.

21 Aug 2018

Study shows that rogue proteins may underlie some ALS and frontotemporal dementia cases

ALS -- amyotrophic lateral sclerosis -- is a neurodegenerative disease that attacks motor neurons in the brain and spinal cord, slowly robbing its victims of their ability to walk, talk, breathe and swallow.

20 Aug 2018

Research uncovers miscarriage cause, identifies potential targets for treatment

Tragic miscarriages for a couple have led to a discovery with potentially broad implications for future disease treatments, according to a team of researchers at the University of North Carolina School of Medicine. They identified a previously undiscovered gene mutation underlying hydrops fetalis – a fatal condition to fetuses due to fluid buildup in the space between organs.

16 Aug 2018

FDA expands approval of Vertex' cystic fibrosis medicine to treat children aged 12 to <24 months

Vertex Pharmaceuticals Incorporated today announced the U.S. Food and Drug Administration approved KALYDECO® (ivacaftor) to include use in children with cystic fibrosis ages 12 to <24 months who have at least one mutation in their cystic fibrosis transmembrane conductance regulator gene that is responsive to KALYDECO based on clinical and/or in vitro assay data.

16 Aug 2018

Penn researchers develop first mouse model of idiopathic pulmonary fibrosis

The biggest hurdle to finding effective therapies for idiopathic pulmonary fibrosis (IPF) – a life-threatening condition in which the lungs become scarred and breathing is increasingly difficult – has been the inability to fully model the disease in animals, limiting the ability to observe and understand the disease.

16 Aug 2018

Study shows efficacy, safety of AAV5-based gene therapy to treat sheep model of achromatopsia

A study of a large animal model of achromatopsia caused by a mutation in the CNGA3 gene that was treated with a single injection of CNGA3 gene therapy delivered using an AAV5 vector revealed findings reported long-term follow-up findings that show promise for the efficacy and safety of this therapeutic approach.

15 Aug 2018

Researchers move closer to finding potential soft spot in drug-resistant tuberculosis

Antibiotic-resistant tuberculosis is a public health threat. TB and other bacteria become resistant to antibiotics by evolving genetic changes over time, which they can do quite quickly because bacterial lifecycles are short.

15 Aug 2018

“Zombie gene” protects elephants from cancer finds study

A new study has found that elephants do not get cancers as frequently as other animals because of a special gene that they carry.

14 Aug 2018

Study identifies potential guidance to treat gastric cancer patients

Researchers from Wake Forest Baptist Medical Center and Tianjin Medical University Cancer Institute and Hospital have discovered that gastric cancer tissue samples bearing mutation of a specific gene, MUC16, too are associated with higher tumor mutation loads.

14 Aug 2018

Scientists identify mutational signatures in ovarian cancer

Scientists have identified distinct patterns of genetic mutation among patients with ovarian cancer that could help them personalise treatment in the future.

14 Aug 2018

Mutation News and Research

Immune-related enzymes cause aggressive skin cancer in patients with Butterfly Syndrome

Study: Microvascular dysfunction can be major cause of heart failure with preserved ejection fraction

Changes in TRPV3 genes may have helped mammoths withstand lower temperatures

Researchers find new therapy to prevent drug resistance for melanoma patients

MDA announces 34 new grants totaling $9.9 million to accelerate neuromuscular research

Researchers describe how RNA polymerase detects UV light damage in DNA

Scientists publish study results of AAV therapy product for treatment of RHO-adRP

Researchers develop faster method to grow brain cells from stem cells

Researchers identify genes responsible for inherited breast cancer in Nigerian women

Scientists report novel gene therapy that halts vision loss in canine model of blinding disease

Genome sequences of ape parasites provide insights on origin and early evolution of malaria

Study shows that rogue proteins may underlie some ALS and frontotemporal dementia cases

Research uncovers miscarriage cause, identifies potential targets for treatment

FDA expands approval of Vertex' cystic fibrosis medicine to treat children aged 12 to <24 months

Penn researchers develop first mouse model of idiopathic pulmonary fibrosis

Study shows efficacy, safety of AAV5-based gene therapy to treat sheep model of achromatopsia

Researchers move closer to finding potential soft spot in drug-resistant tuberculosis

“Zombie gene” protects elephants from cancer finds study

Study identifies potential guidance to treat gastric cancer patients

Scientists identify mutational signatures in ovarian cancer

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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