Last update: 12 hours ago

3-D facial scans could speed diagnoses for children with rare genetic diseases

Genetics news

Genetics

Restoring vision by gene therapy

Humans rely dominantly on their eyesight. Losing vision means inability to read, recognize faces or find objects. Macular degeneration is one of the major causes of visual impairment around the globe; close to 200 million ...

14 hours ago

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Genetics

Scientists uncover how cells remember their identity, avoiding errors that could cause cancer

Cancer is often the result of DNA mutations or problems with how cells divide, which can lead to cells "forgetting" what type of cell they are or how to function properly. Now, Professor Martin Hetzer and a team of scientists ...

18 hours ago

Genetics

New test for rare disease identifies children who may benefit from simple supplement

The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.

20 hours ago

Genetics

3-D facial scans could speed diagnoses for children with rare genetic diseases

Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never ...

12 hours ago

Oncology & Cancer

International study approaches new therapeutic strategies for lung cancer

The international study "Resistance to targeted therapies as a multifactorial, gradual adaptation to inhibitor specific selective pressures," recently published in the scientific journal Nature Communications, has taken a ...

17 hours ago

Oncology & Cancer

Research finds potential new gene target for pediatric liver cancer

A team of UMass Medical School researchers has identified a promising new therapeutic target in hepatoblastoma, a rare, primarily pediatric liver cancer for which successful treatment strategies have been elusive.

20 hours ago

Genetics

Scientists produce a single-cell-resolution map of brain genes in humans and other primates

A group of scientists led by Philipp Khaitovich, a professor at Skoltech, conducted a large-scale study of gene expression in 33 different brain regions of humans, chimpanzees, macaques and bonobos using the single-cell-resolution ...

17 hours ago

Genetics

Research finds new genes contributing to severe childhood obesity

In the largest study of the genetics of childhood obesity, researchers have looked at why some children gain weight very easily.

Jun 03, 2020

Genetics

Study in twins finds our sensitivity is partly in our genes

Some people are more sensitive than others—and around half of these differences can be attributed to our genes, new research has found.

Jun 02, 2020

368

Genetics

Study reveals how a master regulator of gene transcription operates

Using targeted protein degradation technology, researchers at CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, set out to understand the primary role of a key regulator of transcription, ...

Jun 02, 2020

Medical research

Gene discovery in fruit flies 'opens new doors' for hearing loss cure in elderly

Scientists at UCL have discovered sets of regulatory genes, which are responsible for maintaining healthy hearing. The finding, made in fruit flies, could potentially lead to treatments for age-related hearing loss (ARHL) ...

Jun 02, 2020

325

Oncology & Cancer

New CRISPR advance may solve key quandary

A mutation unique to certain cancer tumors is a potential homing beacon for safely deploying CRISPR gene editing enzymes to disarm DNA that makes cancer cells resistant to treatment, while ignoring the gene in normal cells ...

Jun 02, 2020

Genetics

Genetic cause of difference in sexual development uncovered

Researchers at the Francis Crick Institute, the Institut Pasteur and their clinical collaborators have identified a cause of testicular tissue developing in people with female chromosomes.

Jun 01, 2020

382

Genetics

The interface of genomic information with the electronic health record

Advances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the ...

Jun 01, 2020

Genetics

Genetic data may up diagnostic efficiency for rheumatic disease

(HealthDay)—Converting genotype information into an interpretable probability value for five different inflammatory arthritis-causing diseases could potentially improve the diagnostic efficiency of rheumatic disease, according ...

May 29, 2020

Oncology & Cancer

Targeted therapy pralsetinib achieves high response rates in advanced cancers with RET gene fusions

The targeted therapy pralsetinib appears to have high response rates and durable activity in patients with a broad variety of tumors harboring RET gene fusions, according to results from the international Phase I/II ARROW ...

May 29, 2020

Genetics

New streamlined assay can improve prenatal detection of alpha-thalassemia

In a report in The Journal of Molecular Diagnostics, researchers describe a rapid, accurate novel assay for nondeletional alpha-thalassemia genotyping based on one-step nested asymmetric PCR melting curve analysis, which ...

May 29, 2020

Medical research

Study details molecular effects of exercise

A simple blood test may be able to determine how physically fit you are, according to a new study conducted by scientists at the Stanford University School of Medicine.

May 28, 2020

215

Genetics

Using electrical stimulus to regulate genes

This is how it works. A device containing insulin-producing cells and an electronic control unit is implanted in the body of a diabetic. As soon as the patient eats something and their blood sugar rises, they can use an app ...

May 28, 2020

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