Mutation News and Research

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Researchers reveal molecular cause for severe multi-organ disorder

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare disease.

18 Jul 2019

Research opens possibility of developing single-dose gene therapy for inherited arrhythmias

Researchers at Boston Children's Hospital report creating the first human tissue model of an inherited heart arrhythmia, replicating two patients' abnormal heart rhythms in a dish, and then suppressing the arrhythmia with gene therapy in a mouse model.

17 Jul 2019

Gene modulation goes wireless hacking the "boss gene"

Researchers from the University at Buffalo have successfully used technology to wirelessly tweak the functioning of a gene FGFR1. This gene is vital in the growth of embryos into adults. Their experiments were successful in the lab grown brain tissues and shows potential in therapeutics.

16 Jul 2019

Human pancreas on a chip could help identify possible cause of CF-Related Diabetes

Scientists created human pancreas on a chip that allowed them to identify the possible cause of a frequent and deadly complication of cystic fibrosis (CF) called CF-Related Diabetes, or CFRD.

16 Jul 2019

Scientists discover hundreds of protein-pairs through coevolution study

Scientists have discovered hundreds of new protein-protein interactions by looking for co-evolution in some residues of aligned protein sequences.

15 Jul 2019

Researchers discover gene linked to healthy aging in worms

People with the same lifespan do not necessarily have the same quality of life. As we live longer, extending quality of life -- "healthspan" -- is gaining importance.

12 Jul 2019

How cell-free DNA can be targeted to prevent spread of tumors

Cell-free DNA (cfDNA) is DNA found in trace amounts in blood, which has escaped degradation by enzymes.

12 Jul 2019

Researchers identify gene mutations linked to leukemia in children with Down's syndrome

Researchers at the University of Oxford, in collaboration with colleagues from Hannover Medical School and Martin-Luther-University Halle-Wittenberg, have discovered the specific gene mutations that are required for the development of leukemia in children with Down's syndrome.

11 Jul 2019

Bacteria in the birth canal linked to lower risk of ovarian cancer

A new study shows that something as simple as a cervical swab might have the potential to help hundreds of women who are at extremely high risk of ovarian cancer because they have a mutation in the BRCA1 gene.

11 Jul 2019

New drug provides hope for patients with Duchenne muscular dystrophy

The results from three clinical trials have shown that a new drug can successfully delay the progression of Duchenne muscular dystrophy.

10 Jul 2019

Researchers pinpoint treatment target for rare liver cancer in adolescents, young adults

New findings show how a genetically aberrant, fused protein promotes a rare form of liver cancer in adolescents and young adults. The researchers also saw that a certain mix of drugs could target the fused protein and the enzymes that it recruits.

10 Jul 2019

New gene-editing protocol allows perfect mutation-effect matching

Geneticists have long awaited the ability to simply knock out or add a single gene here and there, as desired, with accuracy and efficiency, and then study the exact consequences caused by the loss or addition of that genetic information.

9 Jul 2019

New research uncovers mechanism behind the newest generation of cancer drugs

New research that uncovers the mechanism behind the newest generation of cancer drugs is opening the door for better targeted therapy.

9 Jul 2019

New drug combinations and dosing schedules improve outlook in advanced colon cancer

Advanced colon cancer often spreads widely and may not respond to standard chemotherapy. In such a case, a novel combination of drugs and flexible dosing may help achieve a better outlook, as demonstrated by several new studies.

8 Jul 2019

Schwann cells capable of generating protective myelin over nerves finds research

Researchers have found that Schwann cells, a special type of cells are capable of generating protective myelin sheath covers for the nerves at rates higher than earlier believed.

7 Jul 2019

Study reveals how protein mutation is involved in Christianson syndrome

Rearing its head in infancy, Christianson Syndrome is a rare disorder whose symptoms include intellectual disability, seizures and difficulty standing or walking.

4 Jul 2019

Study: Treatment of psychosis can be targeted to specific genetic mutation

Treatment of psychosis can be targeted to a specific genetic mutation in patients with psychotic disorders, according to a study in Biological Psychiatry, published by Elsevier.

4 Jul 2019

Targeted treatment offers symptom relief for patients with psychosis

Treatment for individuals who experience psychosis, such as hallucinations and delusions as a result of a psychiatric illness, can be targeted to a specific structural mutation, according to a study published by researchers from McLean Hospital and other institutions in the journal Biological Psychiatry.

3 Jul 2019

Some people treated for type 1 diabetes may have monogenic diabetes, study finds

A Joslin Diabetes Center study among people treated for type 1 diabetes for many years has discovered that a minority may have monogenic diabetes, a non-autoimmune inherited condition that in some cases does not require insulin treatment.

3 Jul 2019

Study shows promise for a drug to extend life of patients with ovarian cancer

Women with ovarian cancer who have undergone four or more rounds of chemotherapy typically haven't had much hope that another treatment option will lengthen their lives in a meaningful way.

3 Jul 2019