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Research discoveries reveal insights behind neurological degeneration

Research discoveries revealing the genetic causes of neurological degeneration could be a key to slowing the progression of devastating diseases.

14 Aug 2018

Scientists unravel the mystery behind ovarian cancer with high-grade serous carcinoma

More than two-thirds of women with ovarian cancer have high-grade serous carcinoma. Up to 90 percent of HGSCs are not detected until they are beyond the ovaries or fallopian tubes, at which point it may not be possible to fully remove the tumor.

14 Aug 2018

New study focuses on promise of gene therapy for Amish nemaline myopathy

A new comprehensive natural history study about Amish nemaline myopathy in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder.

14 Aug 2018

Scientists pinpoint the cause of a rare childhood seizure disorder

Scientists have developed a set of computational tools that pinpoint the cause of Early Infantile Epileptic Encephalopathy (EIEE), a rare childhood disorder.

13 Aug 2018

FDA approves first oral medication for treatment of adults with Fabry disease

The U.S. Food and Drug Administration today approved Galafold (migalastat), the first oral medication for the treatment of adults with Fabry disease.

10 Aug 2018

Ground-breaking discovery offers new hope for treatment of Alzheimer’s, other neurological diseases

There is new hope for the treatment of Alzheimer’s and other neurological diseases following a ground-breaking discovery made by an Australian-Chinese research collaboration.

10 Aug 2018

OGT announces launch of updated SureSeq Interpret NGS analysis software

Oxford Gene Technology, The Molecular Genetics Company, has announced the launch of the eagerly-anticipated update to its SureSeq Interpret software, included with purchases of SureSeq NGS panels.

From Oxford Gene Technology 10 Aug 2018

Using CRISPR-Cas9 genome editing to correct mutation responsible for sickle cell disease

Genome editing using the CRISPR-Cas9 system has tremendous promise for therapeutic correction of genetic errors in human cells. Prior to adoption as a medical therapeutic, safety concerns relating to off-target effects must be minimized to mitigate risks that may arise from the unintended action of this system at sites similar, but not identical, to the desired gene target site.

From Integrated DNA Technologies 10 Aug 2018

Novel discovery offers hope for treatment of Alzheimer's and other neurological diseases

There is new hope for the treatment of Alzheimer's and other neurological diseases following a ground-breaking discovery made by an Australian-Chinese research collaboration.

10 Aug 2018

Scientists are one step closer to understanding autistic disorders

Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders, one of the main characteristics of which is impaired social communication.

10 Aug 2018

New discovery could pave way for improved leukemia treatment

Previous research has revealed that patients with acute myeloid leukemia who also have a particular mutation in a gene called NPM1 have a higher rate of remission with chemotherapy. About one-third of leukemia patients possess this favorable mutation, but until now, how it helps improve outcomes has remained unknown.

9 Aug 2018

Researchers discover genetic mutation underlying debilitating childhood brain disorder

Ashleigh Schaffer, PhD, assistant professor of genetics at Case Western Reserve University School of Medicine, and a team of global genetics experts have discovered a genetic mutation and the faulty development process it triggers, causing a debilitating brain-based disorder in children.

9 Aug 2018

Scientists find new molecular biomarker for gastric cancer

Although immunotherapy is seen as a very promising treatment for cancer, currently only 20 to 30 percent of patients respond positively. Being able to identify the people most likely to benefit from the costly therapy is a Holy Grail for oncologists.

9 Aug 2018

Study identifies distinct genetic mutations in appendix cancer that may impact treatment

The rarity of appendix cancer, accounting for less than 1 percent of tumors that originate in the gastrointestinal tract, and the lack of scientific data for this disease means that current treatment guidelines recommend applying therapies to people with appendix cancer that are intended for those with colon cancer.

9 Aug 2018

Cystic fibrosis impacts directly on intrauterine growth, shows research

New research, published in Thorax, funded by the Cystic Fibrosis Trust has shown that babies with cystic fibrosis are born weighing less than babies without the condition, even allowing that they are more likely to be born prematurely.

3 Aug 2018

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

AstraZeneca and Merck, known as MSD outside the U.S. and Canada, today announced that the European Medicines Agency (EMA) has granted orphan designation to selumetinib, a MEK 1/2 inhibitor, for the treatment of neurofibromatosis type 1 (NF1).

3 Aug 2018

Researchers discover new mechanism linked to inherited breast, ovarian cancer

Researchers from Manchester University NHS Foundation Trust and The University of Manchester have identified a new mechanism which switches off a gene in families affected by breast and ovarian cancer.

3 Aug 2018

Researchers use DNA editing tool to reveal mechanisms behind autoimmune diseases

A group of researchers at the University of São Paulo in Brazil used a DNA editing tool called CRISPR/Cas9 to manipulate on of the genes associated to the autoaggressive T lymphocytes responsible for inducing autoimmune diseases such as autoimmune polyglandular syndrome type 1 and type 1 diabetes.

2 Aug 2018

Innovative 'EvolvR' system lets scientists shuffle genes until they get right variation

Scientists at the Innovative Genomics Institute have concocted a transformative new way to harness the power of evolution.

2 Aug 2018

Scientists solve 60-year-old mystery of how thalidomide caused birth defects

More than 60 years after the drug thalidomide caused birth defects in thousands of children whose mothers took the drug while pregnant, scientists at Dana-Farber Cancer Institute have solved a mystery that has lingered ever since the dangers of the drug first became apparent: how did the drug produce such severe fetal harm?

2 Aug 2018

Mutation News and Research

Research discoveries reveal insights behind neurological degeneration

Scientists unravel the mystery behind ovarian cancer with high-grade serous carcinoma

New study focuses on promise of gene therapy for Amish nemaline myopathy

Scientists pinpoint the cause of a rare childhood seizure disorder

FDA approves first oral medication for treatment of adults with Fabry disease

Ground-breaking discovery offers new hope for treatment of Alzheimer’s, other neurological diseases

OGT announces launch of updated SureSeq Interpret NGS analysis software

Using CRISPR-Cas9 genome editing to correct mutation responsible for sickle cell disease

Novel discovery offers hope for treatment of Alzheimer's and other neurological diseases

Scientists are one step closer to understanding autistic disorders

New discovery could pave way for improved leukemia treatment

Researchers discover genetic mutation underlying debilitating childhood brain disorder

Scientists find new molecular biomarker for gastric cancer

Study identifies distinct genetic mutations in appendix cancer that may impact treatment

Cystic fibrosis impacts directly on intrauterine growth, shows research

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

Researchers discover new mechanism linked to inherited breast, ovarian cancer

Researchers use DNA editing tool to reveal mechanisms behind autoimmune diseases

Innovative 'EvolvR' system lets scientists shuffle genes until they get right variation

Scientists solve 60-year-old mystery of how thalidomide caused birth defects

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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