Exome Sequencing News and Research

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Genetic mutation may accelerate heart function decline in DMD patients

A mutation in the gene that causes cystic fibrosis may accelerate heart function decline in those with Duchenne muscular dystrophy (DMD), a new study by UT Southwestern researchers suggests.

4 Nov 2020

Exome sequencing sheds light on genetic causes of nonimmune hydrops fetalis

A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ultrasound.

8 Oct 2020

Brain wiring genes may be linked to a significant portion of cerebral palsy cases

In an article published in Nature Genetics, researchers confirm that about 14% of all cases of cerebral palsy, a disabling brain disorder for which there are no cures, may be linked to a patient's genes and suggest that many of those genes control how brain circuits become wired during early development.

28 Sep 2020

People with one albinism gene mutation may be prone to pale-colored melanomas

People with pale-colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.

25 Sep 2020

New studies report specific mechanisms of impaired type I interferon signaling in COVID-19 patients

Two new studies report specific mechanisms of impaired type I interferon (IFN) signaling in some hospitalized patients suffering from severe cases of COVID-19, suggesting that screens for these defects could help identify patients at the highest risk of life-threatening complications from SARS-CoV-2 infection.

25 Sep 2020

Scientists identify new genetic cause of syndromic microcephaly

Greenwood Genetic Center researchers, in collaboration with scientists from Belgium, Spain, and Italy, have confirmed that variants in LMNB1 cause syndromic microcephaly with variable short stature, intellectual disability, and other neurological symptoms.

17 Sep 2020

Researchers identify specific potential therapeutic targets for aggressive form of pancreatic cancer

A team of researchers led by Mayo Clinic and the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, has identified specific potential therapeutic targets for the most aggressive and lethal form of pancreatic cancer.

15 Sep 2020

A novel gene involved in primary lymphedema identified

The Human Molecular Genetics laboratory of the de Duve Institute (UCLouvain), headed by Professor Miikka Vikkula, recently identified mutations in a novel gene, ANGPT2, responsible for primary lymphedema.

10 Sep 2020

New computational methods help find genetic causes of severe childhood brain disorders

A team of researchers at Children's Hospital of Philadelphia affiliated with the CHOP Epilepsy Neurogenetics Initiative have combined clinical information with large-scale genomic data to successfully link characteristic presentations of childhood epilepsies with specific genetic variants.

26 Aug 2020

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University have identified a subtype of autism arising from a cluster of genes that regulate cholesterol metabolism and brain development.

18 Aug 2020

Genomic sequencing falls short as a standalone screening tool for newborns

With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.

10 Aug 2020

Quantum cryptographic communications technology can provide safe, secure data transmission in genomic medicine

Toshiba Corporation, Tohoku University Tohoku Medical Megabank Organization and Tohoku University Hospital have demonstrated that quantum cryptographic communications technology can provide genomic medicine with a safe, completely secure data management environment.

10 Aug 2020

Study provides new insights into how ovarian cancer grows and evolves

In a paper published in the journal Cancer Research, professor Levi Waldron, post-doctoral fellow Ludwig Geistlinger, and colleagues at the Institute for Implementation Science in Population Health at the CUNY Graduate School of Public Health and Health Policy) provide new insights into how ovarian cancer grows and evolves within a person.

5 Aug 2020

Penn researchers identify genetic driver of Charcot-Marie-Tooth disease

Inherited mutations in a gene that keeps nerve cells intact was shown, for the first time, to be a driver of a neuropathy known as Charcot-Marie-Tooth (CMT) disease.

3 Aug 2020

Experts use genomic analysis tools to create personalized treatment for kidney cancer patients

Experts at City of Hope and the Translational Genomics Research Institute are using one of the world's most comprehensive genomic analysis tools to map out personalized treatment plans for metastatic kidney cancer patients.

22 Jul 2020

Ashion's GEM ExTra assay receives Medicare coverage

Ashion Analytics LLC announced today that Palmetto GBA, a Medicare administrative contractor for the Molecular Diagnostic Services Program (MolDX), has awarded coverage to its proprietary cancer profiling test, GEM ExTra®, one of the nation's most comprehensive genomic cancer analysis tests.

15 Jul 2020

Untargeted metabolomics can determine genetic variant to improve patient diagnosis

A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years.

8 Jul 2020

Researchers identify a novel mutation through whole-exome sequencing

Long QT syndrome (LQTS), caused by an ion channel-related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young.

27 Jun 2020

St. Jude scientists create O-PDX models for pediatric brain tumor research

Scientists at St. Jude Children's Research Hospital have created orthotopic patient-derived xenograft (O-PDX) models representing a variety of pediatric brain tumor types.

23 Jun 2020

Methods to move precision medicine from evaluation into practice and policy

Value in Health, the official journal of ISPOR-;the professional society for health economics and outcomes research, announced today the publication of a series of articles focused on methods for moving from the evaluation of precision medicine into practice and policy.

26 May 2020