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A new DNA test will look for 190 diseases in your newborn’s genetic code

But not all parents may want to know the results. Using a swab of saliva from a newborn’s cheek, a new DNA test will probe the baby’s genes to search for 193 genetic diseases, like anemia, epilepsy, and metabolic disorders.

3D maps of spatial organization may help find genes involved in hereditary diseases

It has now been 15 years since scientists celebrated the completion of the human genome. At that point, scientists had determined the entire sequence of the genetic letters making up our DNA. It is now known that this was only an initial step in a long journey: in addition to the chemical letters, information is also encoded in the manner in which the DNA is packed inside the cell nucleus. A research team led by Ana Pombo from the Max Delbrück Center in Berlin-Buch, in collaboration with international colleagues from Italy, Canada and Great Britain, has now generated comprehensive 3D maps of the spatial organization of the mouse genome, from embryonic stem cells to fully developed neurons. The work has been published in the journal Molecular Systems Biology. In the future such maps might h...

Brain study reveals insights into genetic basis of autism

UNSW Australia scientists have discovered a link between autism and genetic changes in some segments of DNA that are responsible for switching on genes in the brain. The finding is the result of a world-first study of the human brain that identified more than 100 of these DNA segments, known as enhancers, which are thought to play a vital role in normal development by controlling gene activity in the brain. “Our study provides a unique resource of information on gene function in the human brain which could help reveal the basis of autism and related neurological disorders,” says lead author UNSW’s Dr Irina Voineagu. The research is published in the journal Nature Neuroscience. A lot of research on the genetic causes of diseases, including autism, focuses on mutations in g...

BREAKTHROUGH: Understanding and Reversing Memory Loss in Epilepsy Patients

New research from the University of Alabama at Birmingham identifies an epigenetic cause for why patients with temporal lobe epilepsy tend to have memory loss, and suggests a potential way to reverse that loss. The findings, published in April in the Annals of Translational and Clinical Neurology, indicate the discovery may have implications for many other memory disorders. Patients with temporal lobe epilepsy have a high incidence of memory loss, even when seizures associated with epilepsy are controlled well by medication. The UAB research team targeted the BDNF gene, which is known to play a role in memory formation. The gene produces a protein called brain-derived neurotrophic factor. An epigenetic process called DNA methylation regulates when genes are turned on or off. When turned on...

Researchers discover new genetic cause of rare, complex form of epilepsy

A research team led by scientists at the Scripps Translational Science Institute (STSI) has used whole genome sequencing to identify a new genetic cause of a severe, rare and complex form of epilepsy that becomes evident in early childhood and can lead to early death. The researchers found a mutation in the KCNB1 gene after mapping the DNA of a 10-year-old girl who suffers from epileptic encephalopathy. The findings were reported in the October edition of the peer-reviewed medical journal Annals of Neurology. The KCNB1 gene encodes the Kv2.1 voltage-gated potassium channel, which regulates the flow of potassium ions through neurons, affecting how the cells communicate with one another. The voltage-gated potassium channel also regulates potassium flow in the kidney, which affects potassium ...

Study: Family Violence Can Change DNA Forever

A new Tulane University School of Medicine study finds that the more fractured families are by domestic violence or trauma, the more likely that children will bear the scars down to their DNA. Researchers discovered that children in homes affected by domestic violence, suicide or the incarceration of a family member have significantly shorter telomeres, which is a cellular marker of aging, than those in stable households. The findings are published online in the latest issue of the journal Pediatrics. Telomeres are the caps at the end of chromosomes that keep them from shrinking when cells replicate. Shorter telomeres are linked to higher risks for heart disease, obesity, cognitive decline, diabetes, mental illness and poor health outcomes in adulthood. Researchers took genetic samples fro...

Three innovative tools to detect, test and initiate personalized drug treatment for seizures

A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai – specialists in identifying and treating very rare diseases – used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development. “This personalized medical approach exemplifies the power of current research tools and shows the immense potential of applying these technologies for future patients,” said Tyler Mark Pierson, MD, PhD, a pediatric neurologist and member of the Department of Pediatrics and the Department of Neurology at Cedars-Sinai. Pierson, a me...

PREVENTION: EpimiRNA Consortium concentrates on developing novel mRNA-based therapeutics to prevent epilepsy

Over 50 million people across the world suffer from epilepsy, making it the most common serious neurological disorder for which there is no cure. The causes for epilepsy are insufficiently understood with currently available treatments being sub-optimal and with a significant proportion of patients not responding. Recent discoveries have identified a new type of molecule in cells called microRNA which may be critical to controlling the changes in brain chemistry that accompany the development and course of epilepsy. The EpimiRNA Consortium represents a major interdisciplinary effort between epilepsy researchers, geneticists, clinicians, experts in advanced molecular sciences and research-active companies working together to understand molecular mechanisms, diagnostics and developing novel ...

Genetically Predisposed to Faint?

Fainting has a strong genetic predisposition, according to new research published in the August 7, 2012, print issue of Neurology®, the medical journal of the American Acade my of Neurology. Fainting, also called vasovagal syncope, is a brief loss of consciousness when your body reacts to certain triggers, such as emotional distress or the sight of blood. “The question of whether fainting is caused by genetic factors, environmental factors or a mixture of both has been the subject of debate,” said study author Samuel F. Berkovic, MD, FRS, with the University of Melbourne in Victoria, Australia, and a member of the American Academy of Neurology. For the study, 51 sets of twins of the same gender between the ages of nine and 69 were given a telephone questionnaire. At least one o...

Ring-Like Protein Complex Helps Ensure Accurate Protein Production

In fairy tales, magic rings endow their owners with special abilities: the ring makes the wearer invisible, fulfils his wishes, or otherwise helps the hero on the path to his destiny. Similarly, a ring-like structure found in a protein complex called ‘Elongator’ has led researchers at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and the Institut de Genetique et Biologie Moleculaire et Cellulaire (IGBMC) in Strasbourg, France, in exciting new directions. Published in Nature Structural & Molecular Biology, the first three-dimensional structure of part of this complex provides new clues to its tasks inside the cell and to its role in neurodegenerative diseases. Changes to the proteins that make up Elongator have been linked to disorders such as fami...

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