Mutation News and Research

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Rare mutation in suspect gene disrupts brain circuitry in complex psychiatric disorders

Researchers have long suspected that major mental disorders are genetically-rooted diseases of synapses - the connections between neurons.

18 Aug 2014

Scientists develop algorithm to uncover genomic insertions and deletions involved in autism, OCD

With three billion letters in the human genome, it seems hard to believe that adding a DNA base here or removing a DNA base there could have much of an effect on our health.

18 Aug 2014

Researchers use new gene editing method to correct mutation that leads to DMD

UT Southwestern Medical Center researchers successfully used a new gene editing method to correct the mutation that leads to Duchenne muscular dystrophy (DMD) in a mouse model of the condition.

17 Aug 2014

Illness-linked genetic variation affects connections among neurons in the developing brain

A genetic variation linked to schizophrenia, bipolar disorder and severe depression wreaks havoc on connections among neurons in the developing brain, a team of researchers reports.

16 Aug 2014

Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, Vanderbilt investigators have discovered.

15 Aug 2014

Research offers promise for personalized RNA combination therapies to treat lung cancer

Small RNA molecules, including microRNAs (miRNAs) and small interfering RNAs (siRNAs), offer tremendous potential for new therapeutic agents to inhibit cancer cell growth. However, delivering these small RNAs to solid tumors remains a significant challenge, as the RNAs must target the correct cells and avoid being broken down by enzymes in the body.

15 Aug 2014

New therapeutic strategy to combat common genetic risk factor for ALS, FTD

A team of researchers at Mayo Clinic and The Scripps Research Institute in Florida have developed a new therapeutic strategy to combat the most common genetic risk factor for the neurodegenerative disorders amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) and frontotemporal dementia (FTD).

15 Aug 2014

NTU research could lead to better treatment options for children suffering from leukaemia

A research team led by Nanyang Technological University scientists have made a key finding which is expected to open up improved treatment possibilities for children suffering from leukaemia.

15 Aug 2014

Researchers find method to repair gene mutation causing autoimmune deficiency disease

Researchers at Karolinska Institutet in Sweden have found a method to repair the gene mutation causing agammaglobulinemia, an autoimmune deficiency disease that almost exclusively affects boys and in which the body lacks the ability to produce immunoglobulins (gamma globulin).

14 Aug 2014

Findings open up improved treatment possibilities for children suffering from leukaemia

A research team led by Nanyang Technological University (NTU) scientists have made a key finding which is expected to open up improved treatment possibilities for children suffering from leukaemia.

14 Aug 2014

Reducing brain levels of tau protein effectively blocks development of childhood epilepsy

Researchers at the Gladstone Institutes have shown that reducing brain levels of the protein tau effectively blocks the development of disease in a mouse model of Dravet syndrome, a severe intractable form of childhood epilepsy.

14 Aug 2014

Researchers discover new clue to understanding how TB medication attacks dormant TB bacteria

Researchers at the Johns Hopkins Bloomberg School of Public Health say they have discovered a new clue to understanding how the most important medication for tuberculosis (TB) works to attack dormant TB bacteria in order to shorten treatment.

13 Aug 2014

Researchers make significant step forward in understanding mechanisms that cause leukaemia

Scientists from Queen Mary University of London have discovered mutations in genes that lead to childhood leukaemia of the acute lymphoblastic type - the most common childhood cancer in the world.

13 Aug 2014

Researchers reprogram nonribosomal peptide synthetases for clickable amino acids

A single targeted mutation is enough to alter a natural peptide system so that it also incorporates non-natural amino acids into peptides, report Swiss scientists in the journal Angewandte Chemie.

13 Aug 2014

Identifying epigenetic markers in cancer cells could improve patient treatment

Scientists have known for decades that cancer can be caused by genetic mutations, but more recently they have discovered that chemical modifications of a gene can also contribute to cancer.

13 Aug 2014

Researchers gain rare insight into pregnancy-associated breast cancer

During pregnancy, certain hormones trigger specialized mammary stem cells to create milk-producing cells essential to lactation.

13 Aug 2014

Imaging system rapidly detects molecular marker in brain gliomas, enables removal of tumor

During tumor surgery, surgeons work to remove tumor tissue without damaging surrounding healthy tissue.

13 Aug 2014

Human genetics expert wins 2014 Basser Global Prize for BRCA-related research

Twenty years after the first identification of the BRCA1 gene, the University of Pennsylvania's Basser Research Center for BRCA will honor the geneticist credited with its founding with the second annual Basser Global Prize.

13 Aug 2014

New model provides insight into neurofunctional mechanisms of autism

An analysis of autism research covering genetics, brain imaging, and cognition led by Laurent Mottron of the University of Montreal has overhauled our understanding of why autism potentially occurs, develops and results in a diversity of symptoms.

13 Aug 2014

Huntingtin protein plays critical role in long-term memory development

It has been more than 20 years since scientists discovered that mutations in the gene huntingtin cause the devastating progressive neurological condition Huntington's disease, which involves involuntary movements, emotional disturbance and cognitive impairment.

13 Aug 2014

Mutation News and Research

Rare mutation in suspect gene disrupts brain circuitry in complex psychiatric disorders

Scientists develop algorithm to uncover genomic insertions and deletions involved in autism, OCD

Researchers use new gene editing method to correct mutation that leads to DMD

Illness-linked genetic variation affects connections among neurons in the developing brain

Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

Research offers promise for personalized RNA combination therapies to treat lung cancer

New therapeutic strategy to combat common genetic risk factor for ALS, FTD

NTU research could lead to better treatment options for children suffering from leukaemia

Researchers find method to repair gene mutation causing autoimmune deficiency disease

Findings open up improved treatment possibilities for children suffering from leukaemia

Reducing brain levels of tau protein effectively blocks development of childhood epilepsy

Researchers discover new clue to understanding how TB medication attacks dormant TB bacteria

Researchers make significant step forward in understanding mechanisms that cause leukaemia

Researchers reprogram nonribosomal peptide synthetases for clickable amino acids

Identifying epigenetic markers in cancer cells could improve patient treatment

Researchers gain rare insight into pregnancy-associated breast cancer

Imaging system rapidly detects molecular marker in brain gliomas, enables removal of tumor

Human genetics expert wins 2014 Basser Global Prize for BRCA-related research

New model provides insight into neurofunctional mechanisms of autism

Huntingtin protein plays critical role in long-term memory development

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