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Genetics and Birth Defects

An enzyme that fixes broken DNA sometimes destroys it instead, researchers find

The discovery of a new mechanism of DNA damage could offer new insights into cancer and neurodegenerative disease, and also reveals a ...

A Link between DNA Transcription and Disease-Causing Expansions Which Lead to Hereditary Disorders

Medford/Somerville, Mass—Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to ...

Researchers Shed New Light on the Genetics of Memory Performance

(Boston)– In the largest study of the genetics of memory ever undertaken, an international research team including scientists from Boston University School of Medicine (BUSM), have discovered two common genetic variants that are believed to be associated with memory performance. The findings, which appear in the journal Biological Psychiatry, are a significant step towards better understanding how memory loss is inherited. ... Full story

Missing gene linked to autism

Researchers at the University of Leeds have shed light on a gene mutation linked to autistic traits. ... Full story

Genetic test unlocks cause of Brisbane boy’s rare disease

Queensland researchers have led an international effort to uncover the gene behind a young Brisbane boy’s rare developmental condition, in a discovery his family hopes will pave the way for future treatments. ... Full story

Major new study reveals new similarities and differences between mice and humans

Powerful clues have been discovered about why the human immune system, metabolism, stress response, and other life functions are so different from those of the mouse. A new, comprehensive study of the mouse genome by an international group of researchers including Penn State University scientists reveals striking similarities and differences with the human genome. The study may lead to better use of mouse models in medical research. ... Full story

Scientists Map Mouse Genome's 'Mission Control Centers'

When the mouse and human genomes were catalogued more than 10 years ago, an international team of researchers set out to understand and compare the “mission control centers” found throughout the large stretches of DNA flanking the genes. ... Full story

Gene therapy provides safe, long-term relief for patients with severe hemophilia B

Gene therapy pioneered by St. Jude Children’s Research Hospital, University College London and the Royal Free Hospital provides men with hemophilia B reliable relief from the bleeding disorder ... Full story

Of mice and men: Researchers compare mammals’ genomes to aid human clinical research

Comparing the human genome with the mouse genome reveals both shared general principles and important differences in how each species’ genes are regulated. ... Full story

New comprehensive view of the mouse genome finds many similarities and striking differences with human genome

Comparisons of both genomes' inner workings may lead to a better use of mouse models ... Full story

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