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Blueprint Medicines announces approval of AYVAKYT for treatment of ISM patients in Europe

Blueprint Medicines Corporation today announced the European Commission has approved AYVAKYT® (avapritinib) for the treatment of adult patients with indolent systemic mastocytosis (ISM) with moderate to severe symptoms inadequately controlled on symptomatic treatment. AYVAKYT is the first and only approved therapy for people living with ISM in Europe.

15 Dec 2023

Study uncovers vast genomic diversity in Aboriginal Australian communities

Study on Aboriginal Australian communities using whole-genome sequencing reveals a high level of unique genetic diversity, including novel alleles and structural variants, crucial for understanding human genomic evolution and medical genetics.

14 Dec 2023

Research shows how the immune system keeps Herpes simplex virus at bay

Herpes simplex virus (HSV) is extremely common, affecting nearly two-thirds of the world's population, according to the World Health Organization.

14 Dec 2023

Fetal hormone GDF15 linked to nausea and vomiting in pregnancy

Study finds that high levels of the fetal hormone GDF15 in mothers are linked to an increased risk of nausea, vomiting, and hyperemesis gravidarum in pregnancy, offering new insights into the condition's etiology.

14 Dec 2023

Researchers report progress in the search for more accurate blood markers for acute kidney injury

Using cells from kidney biopsies, Johns Hopkins Medicine, researchers report progress in the search for more accurate and easier-to-obtain markers to help predict, manage and assess treatment of acute kidney injury (AKI).

14 Dec 2023

Researchers develop a framework to identify potentially hidden genetic contributors to disease

Genome-wide association studies (GWAS) on patient blood samples are useful for identifying the genetic basis of blood cell traits and their links to common diseases.

14 Dec 2023

Study uncovers unique genetic diversity in Australian Indigenous populations

Scientists at ANU have revealed significant genetic diversity among Australian Indigenous communities, uncovering unique genetic variations that could impact personalized medical treatments for chronic diseases.

14 Dec 2023

How safe are GLP-1R agonists in early pregnancy?

JAMA Internal Medicine study examines the safety of GLP-1 receptor agonists and other second-line antidiabetic medications during early pregnancy, finding no significant increase in congenital anomalies compared to insulin use.

14 Dec 2023

Unlocking the secrets of our "dark genome": Scientists crack the code of LINE-1

A multidisciplinary study published in Nature has elucidated the structure of the machinery responsible for writing much of our "dark genome" - the 98 percent of our DNA that has largely unknown biological function.

14 Dec 2023

New advance in the development of a test for early diagnosis of cancer

Blood cells reveal tumors in the body. Researchers at the Paul Scherrer Institute achieve an advance with the development of a test for early diagnosis of cancer.

14 Dec 2023

Novel machine learning tool predicts gain- and loss-of-function variants across the genome

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.

14 Dec 2023

Study points to binge drinking and genetics as key factors in liver disease

Those who binge drink and have a certain genetic makeup are six times more likely to develop alcohol-related cirrhosis, according to new research from UCL, the Royal Free Hospital, the University of Oxford and the University of Cambridge.

14 Dec 2023

Study suggests possible targets for the development of a vaccine against multiple sclerosis

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease in which the Epstein-Barr virus (EBV) is thought to play a role that has not yet been fully clarified.

14 Dec 2023

Association of genetically proxied PDE5 inhibition with measures of fertility, sexual behavior, and wellbeing

Researchers performed a two-sample Mendelian randomization analysis to investigate the associations between genetically proxied suppression of PDE5, a recognized pharmacological target for erectile dysfunction, fertility, subjective wellness, and sexual behavior.

14 Dec 2023

Research shows correlation between neonatal proteins and adult health

Research led by Professor John McGrath from the University of Queensland found that the concentration of the C4 protein, an important part of the immune system, was not associated with risk of mental disorders.

13 Dec 2023

Study finds key gene deletion shields mice from diet-induced obesity and liver disease

Study in the International Journal of Obesity reveals that BMAL1 deletion in mice protects against obesity and non-alcoholic fatty liver disease caused by a high-fat diet, highlighting its potential as a therapeutic target.

13 Dec 2023

Deep learning reveals hidden patterns in adolescent mental health

The personal yet global struggle with mental health may be more visible now than ever before. Yet many people still find it difficult to access the support they need. In Japan, suicide is sadly the leading cause of death for young people.

13 Dec 2023

CRISPR opens doors for novel probiotic functions and applications

Humans can benefit significantly from symbiotic relationships with probiotics - live bacteria and microorganisms that influence the gut microbiota.

13 Dec 2023

Genetic link to premature ovarian insufficiency explained: A mitochondrial perspective

Infertility affects around 48 million couples worldwide and can have various causes. In mammals, including humans, eggs are produced in the ovary.

13 Dec 2023

People with very irregular sleep patterns may have higher dementia risk

People who have very irregular sleep patterns may have a higher risk of dementia than those who have more regular sleep patterns, according to new research published in the December 13, 2023, online issue of Neurology, the medical journal of the American Academy of Neurology.

13 Dec 2023

Genetic News and Research

Blueprint Medicines announces approval of AYVAKYT for treatment of ISM patients in Europe

Study uncovers vast genomic diversity in Aboriginal Australian communities

Research shows how the immune system keeps Herpes simplex virus at bay

Fetal hormone GDF15 linked to nausea and vomiting in pregnancy

Researchers report progress in the search for more accurate blood markers for acute kidney injury

Researchers develop a framework to identify potentially hidden genetic contributors to disease

Study uncovers unique genetic diversity in Australian Indigenous populations

How safe are GLP-1R agonists in early pregnancy?

Unlocking the secrets of our "dark genome": Scientists crack the code of LINE-1

New advance in the development of a test for early diagnosis of cancer

Novel machine learning tool predicts gain- and loss-of-function variants across the genome

Study points to binge drinking and genetics as key factors in liver disease

Study suggests possible targets for the development of a vaccine against multiple sclerosis

Association of genetically proxied PDE5 inhibition with measures of fertility, sexual behavior, and wellbeing

Research shows correlation between neonatal proteins and adult health

Study finds key gene deletion shields mice from diet-induced obesity and liver disease

Deep learning reveals hidden patterns in adolescent mental health

CRISPR opens doors for novel probiotic functions and applications

Genetic link to premature ovarian insufficiency explained: A mitochondrial perspective

People with very irregular sleep patterns may have higher dementia risk

eBook: Using iPSCs models for human disease research and drug discovery eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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