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Genetics

Sustained visual improvements in LHON patients treated with AAV gene therapy

A multinational study led by the LHON Study Group has revealed sustained visual improvements and a favorable safety profile five years following lenadogene nolparvovec gene therapy in patients with Leber hereditary optic ...

Oncology & Cancer

New genetic mutation found to suppress cancer growth

UT Southwestern Medical Center researchers have identified a genetic mutation that slows the growth of melanoma and potentially other cancers by harnessing the power of the immune system. Their findings, published in the ...

Genetics

Gene editing tool reduces Alzheimer's plaque precursor in mice

A new gene editing tool that helps cellular machinery skip parts of genes responsible for diseases has been applied to reduce the formation of amyloid-beta plaque precursors in a mouse model of Alzheimer's disease, researchers ...

Genetics

New findings expand genetic knowledge of autism underpinnings

Hundreds of novel genetic variants across an ancestrally diverse cohort of 195 families, including 222 people with autism spectrum disorder (ASD), have been identified by researchers at UT Southwestern Medical Center, expanding ...

Oncology & Cancer

Overcoming glioblastoma resistance to chemotherapy

In spite of intensive research, glioblastoma remains one of the most lethal types of brain cancer. Temozolomide (TMZ) is used as the front-line medicine in its treatment.

Genetics

Large-scale study links dyslexia genetics to brain structure

Dyslexia is a common learning difficulty in which genes often play a role. How do genes associated with dyslexia relate to brain structure in the general population? In a large-scale study published in Science Advances, a ...

Genetics

New gene therapy could alleviate chronic pain, researchers find

Pain is meant to be a defense mechanism. It creates a strong sensation to get us to respond to a stimulus and prevent ourselves from further harm. But, sometimes injuries, nerve damage, or infections can cause long-lasting, ...

Genetics

Genetic testing moving into the mainstream, study finds

Genetic testing, which has expanded in recent years with advances in technology and the development of consumer products, is on a path to widespread acceptance in the U.S., researchers at UT Southwestern Medical Center found. ...

Genetics

Researchers discover molecular events leading to Rett syndrome

Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have gained new insights into the molecular changes leading ...

Genetics

Collaborative seeks to change children's lives through genetics

A 14-year-old girl was having back pain after a car accident and visited an orthopedic clinic at Boston Children's Hospital. In the course of her care, she joined the Children's Rare Disease Collaborative (CRDC), a hospital-wide ...

Genetics

Mini-brains reveal how mitochondrial mutations affect brain cells

Researchers at the University of Bergen have used advanced stem cell technology to develop mini-brains, also called brain organoids, that can mimic disease processes caused by mitochondrial failure. This could open new avenues ...

Oncology & Cancer

High-altitude gene variant linked to better blood cancer prognosis

Two researchers from Huntsman Cancer Institute at the University of Utah (the U) have discovered a gene variant found in high-altitude Andean populations that they believe could be a new biomarker for predicting the severity ...

Oncology & Cancer

How ovarian cancer cells adapt while moving across tissues

The spread of tumor from the primary cancer site to distant organs, called metastasis, has puzzled scientists for many years—they are only now beginning to pinpoint triggers and mechanisms that drive this process.

Genetics

Study reveals how cell types shape human brain networks

Rutgers researchers at the Brain Health Institute (BHI) and Center for Advanced Human Brain Imaging Research (CAHBIR) have uncovered how different types of brain cells work together to form large-scale functional networks ...

Genetics

New genetic explanation for heart condition revealed

A potentially life-changing heart condition, dilated cardiomyopathy, can be caused by the cumulative influence of hundreds or thousands of genes and not just by a single "aberrant" genetic variant, as was previously thought, ...

Genetics

Researchers zero in on genetic variant tied to miscarriages

In what could be a major advance in understanding the genetic causes underlying human infertility, scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early ...

Oncology & Cancer

Healthy women have cells that resemble breast cancer, study finds

A new study from researchers at The University of Texas MD Anderson Cancer Center finds that, in healthy women, some breast cells that otherwise appear normal may contain chromosome abnormalities typically associated with ...

Genetics

Early skeleton map reveals how bones form in humans

The first "blueprint" of human skeletal development reveals how the skeleton forms, shedding light on the process of arthritis, and highlighting cells involved in conditions that affect skull and bone growth.

Oncology & Cancer

New barcode technology could help diagnose cancer more precisely

A new pathology tool created at Yale harnesses barcode technology and shows potential for use in cancer diagnoses. The technology, Patho-DBiT (pathology-compatible deterministic barcoding in tissue), was discussed in a new ...

Genetics

Study links rare genetic mutation to severe neurological disorder

A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known as developmental and epileptic ...