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A novel mechanism shared by mutations in varied genes could help treat neurological diseases

Researchers at Tel Aviv University, led by Prof. Illana Gozes from the Department of Human Molecular Genetics and Biochemistry at the Sackler Faculty of Medicine and the Sagol School of Neuroscience, have unraveled a mechanism shared by mutations in the genes ADNP and SHANK3, which cause autism, schizophrenia, and other conditions.

25 May 2022

New study explores how human plastins behave in cells

New study reveals that a family of proteins that help many different types of cells move and retain their form may induce disease when they work too hard and disturb the cellular environment.

23 May 2022

Research shows how visible hotspots may be easy to target with immune-stimulating drugs

Many cancers include genetic “hotspots,” or sections of DNA that are subject to mutation. For example, a mutation in the TP53 gene is found in more than 50% of all cancers, generally within a narrow DNA range.

18 May 2022

Researchers identify gene mutation to have the potential to induce higher intelligence in humans

When genes mutate, serious diseases of the human nervous system can result. Scientists from Leipzig University and the University of Würzburg have now used fruit flies to show how, in addition to the negative impact, mutation of a neuronal gene can have a beneficial impact—higher IQ in humans.

12 May 2022

Study shows serum-derived extracellular vesicles may help in diagnosing amyloidosis

Amyloidosis is a term used to describe a group of diseases defined by the formation of insoluble proteins called amyloids outside of cells as a result of misfolding and aggregation of soluble proteins.

12 May 2022

bit.bio launches Huntington’s disease human cell model

First neurodegenerative disease model launched from bit.bio's new ioDisease Model portfolio.

From bit.bio 10 May 2022

New technique uses genetic data that may better predict disease risk in a population

Polygenic risk scores (PRS) are promising tools for forecasting disease risk, but current versions have bias built-in, which can reduce their accuracy in some populations and lead to health disparities.

10 May 2022

Scientists reveal how autism-linked genetic mutation disrupts neural development using mini-brains

In a study published May 02, 2022 in Nature Communications, scientists at University of California San Diego School of Medicine used human brain organoids to reveal how a genetic mutation associated with a profound form of autism disrupts neural development.

From UC San Diego 3 May 2022

Researchers analyze leaf angle genetics for improved crop yields

Plants have long been the main source of nutrition. The demand for food production is always increasing as the human population grows exponentially. Since agricultural land is constrained, meeting this rising need will necessitate developing new ways to increase the productivity of existing crops.

29 Apr 2022

National DNA Day 2022: an interview with Professor Matthew Cobb

To celebrate National DNA Day 2022, we spoke to science communicator Professor Matthew Cobb.

From The University of Manchester 25 Apr 2022

Study underscores the crucial role of genomic profiling in diagnosing and grading brain tumors

Patients diagnosed with a type of brain tumor survived for longer when they were treated aggressively with surgery, radiation and chemotherapy.

22 Apr 2022

Bone growth protein may help treat newborns with rare genetic lung condition

When babies are born with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), their skin starts to turn blue from the under-oxygenated blood in their systems.

22 Apr 2022

Cornell scientists explore how human genetics impacts gut microbiome function

New research from Cornell scientists is exploring how human genetics impacts functions of the gut microbiome, and is expanding awareness of the role human genetics plays in shaping the microbiome.

22 Apr 2022

Little-known protein may play a role in frontotemporal lobar degeneration

Scientists have known for years that amyloid fibrils -; fibrous, ropelike structures formed by closely linked protein molecules -; are present in the brains of patients with Alzheimer's and Parkinson's diseases and likely play a role in the progression of these disorders.

21 Apr 2022

Researchers analyze single-cell DNA sequencing for having a significant role in Alzheimer’s disease

The loss of functional neurons in the brain is a characteristic of Alzheimer’s disease. What, on the other hand, is the source of this loss?

21 Apr 2022

Study provides a deeper understanding of how gene mutations contribute to breast cancer progression

A mutated gene found in more than 20% to 30% of breast cancer recurrences may help tumors become more aggressive and promote metastasis, according to a pair of new studies that uncover mechanisms behind these processes and point to new therapy targets.

From University of Pittsburgh 20 Apr 2022

Mutation News and Research

A novel mechanism shared by mutations in varied genes could help treat neurological diseases

New study explores how human plastins behave in cells

Research shows how visible hotspots may be easy to target with immune-stimulating drugs

Researchers identify gene mutation to have the potential to induce higher intelligence in humans

Study shows serum-derived extracellular vesicles may help in diagnosing amyloidosis

bit.bio launches Huntington’s disease human cell model

New technique uses genetic data that may better predict disease risk in a population

Scientists reveal how autism-linked genetic mutation disrupts neural development using mini-brains

Researchers analyze leaf angle genetics for improved crop yields

National DNA Day 2022: an interview with Professor Matthew Cobb

Study underscores the crucial role of genomic profiling in diagnosing and grading brain tumors

Bone growth protein may help treat newborns with rare genetic lung condition

Cornell scientists explore how human genetics impacts gut microbiome function

Little-known protein may play a role in frontotemporal lobar degeneration

Researchers analyze single-cell DNA sequencing for having a significant role in Alzheimer’s disease

Study provides a deeper understanding of how gene mutations contribute to breast cancer progression

Stem cell-mediated gene therapy technique helps to boost bone regeneration

Epigenetic regulator helps determine lung cancer patients and their resistance to drugs

Researchers analyze the body’s immune cells with blood cancer cells

Immune cell migration contributes to inefficient antitumor immunity, study finds

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