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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

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital has launched a two-pronged study of COVID-19 disease among children and youth up to age 25 across the country, with $2.1 million in funding from the Centers for Disease Control and Prevention.

28 Apr 2020

Researchers develop online resource to refine results from RNA sequencing

DNA sequencing is becoming a more commonplace method for detecting diseases and improving precision medicine.

8 Apr 2020

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Results from one of the first studies to determine the effects of pre-surgical, or neoadjuvant, chemotherapy on the breast cancer genome offer up two key insights.

26 Feb 2020

Scientists create world’s first model of pituitary disease using human iPS cells

Researchers at Kobe University's Graduate School of Medicine have developed the world's first congenital pituitary hypoplasia model using patient-derived iPS cells.

14 Feb 2020

Largest genome study sheds light on how genetic glitches trigger tumor formation

It is well-known that when a gene mutates, it triggers tumor formation by stimulating abnormal cell growth and proliferation. Cancer starts from a mutant gene that kickstarts a series of abnormal growth, forming a tumor. However, the exact mechanism of how this happens remains unclear.

6 Feb 2020

'Innovative Research Award' helps CU scientists to explore BRAF inhibition resistance in brain cancer

Cancers used to be defined by where they grow in the body - lung cancer, skin cancer, brain cancer, etc. But work in recent decades has shown that cancers sharing specific genetic changes may have more in common than cancers that happen to grow in an area of the body.

21 Jan 2020