Home | Genetics and Birth Defects

Genetics and Birth Defects

Researchers identify genome-modifying enzyme linked to Rett Syndrome

Deletion of the HDAC3 gene in the brains of mice causes cognitive and social impairments consistent with Rett Syndrome. ...

Healing Broken Hearts

With support from the NC TraCS Institute and a caregiver’s mentality, a UNC surgeon created a research program to address the most ...

Scientists cut ‘Gordian knot’ in human genome

3-D genome surgery on female’s silent X chromosome alters folding of inch-long loops ... Full story

Neuroscience study identifies new trigger mechanism for fragile X syndrome in mice

Loss of astroglia-specific fragile X mental retardation protein contributes to fragile X syndrome ... Full story

The University of Notre Dame continues to grow as a resource for rare disease research

This coming fall, McCourtney Hall will open as the first dedicated interdisciplinary research building at the University of Notre Dame. Richard Taylor, professor of chemistry ... Full story

Penn Medicine to Develop the Next Generation of Viral Vectors -- called AAV 3.0™ -- for Gene Therapies and Genome Editing

PHILADELPHIA—The Perelman School of Medicine at the University of Pennsylvania has launched a new program, called AAV 3.0™, to create new viral vectors to find ... Full story

Chemical Exacerbates Bacterial Infection, Important For Cystic Fibrosis

A naturally produced chemical exacerbates infection by a common bacteria, rendering the infection significantly harder for the body to clear, according to new research from Weill Cornell Medicine and Cornell University. The bacteria, Pseudomonas aeruginosa, is especially harmful for patients with the lung disease cystic fibrosis; investigators hope this understanding will help facilitate the development of improved therapies. ... Full story

Highly efficient agent against Wilson disease

Neuherberg, Germany. In the 'Journal of Clinical Investigation', scientists at the Helmholtz Zentrum München describe a small peptide that very efficiently binds excess copper from liver cells. This molecule comes from a bacterium's bag of tricks and could be suitable for treating Wilson disease. In an experimental model it has already proven superior to conventional medicines. ... Full story

Curing 'bubble baby' disease: From the lab to the clinic

For the last several decades, scientists worldwide have been seeking to harness the power of stem cells to develop therapies for human diseases and conditions. At UCLA’s Broad Stem Cell Research Center, the potential to bring stem cell therapies to patients is now a reality ... Full story

Clinical trial opens new avenues for pharmacological therapy in Down's syndrome

A team of scientists led by doctors Mara Dierssen at the Centre for Genomic Regulation (CRG) and Rafael de la Torre at Hospital del Mar ... Full story

1 2 3 4 5 6 7 8 9 10 next last total: 2408 | displaying: 1 - 10