Exome Sequencing News and Research

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Study reveals why intellectual disability risk for younger siblings is low

Intellectual disability is most often caused by changes to the genome that take place in early fetal development and are not found in the parents’ DNA.

19 Apr 2021

Japanese–European scientists detect novel genetic mitochondrial disorder

The list of known genetic mitochondrial disorders is ever-growing, and ongoing research continues to identify new disorders in this category.

15 Apr 2021

Rare genetic variant may explain severe COVID-19 in young healthy male patients

A recent study describes the association of rare alleles in a specific gene with severe COVID-19 in young male patients.

29 Mar 2021

Study uncovers mechanism that causes genetic movement disorder

A research team at the Greenwood Genetic Center (GGC) has identified the mechanism that causes movement disorders in patients with mutations in the NUS1 gene.

22 Mar 2021

Underrepresentation in genomic databases may affect therapy selection for minority patients

Low representation of minority groups in public genomic databases may affect therapy selection for Black patients with cancer, according to new Mayo Clinic research published in npj Precision Oncology.

19 Mar 2021

Study investigates how genetic variants contribute to increased risk of lung cancer

Lung cancer is the leading cause of cancer death in the U.S. for both men and women. While risk for this disease can be influenced by environmental and lifestyle factors like smoking, studies estimate that 18% of lung cancer cases are due to inherited genetic variants.

18 Mar 2021

Somatic gene mutations in brain cells could contribute to schizophrenia pathology

Schizophrenia is a neurodevelopmental disorder that disrupts brain activity producing hallucinations, delusions, and other cognitive disturbances. Researchers have long searched for genetic influences in the disease, but genetic mutations have been identified in only a small fraction--fewer than a quarter--of sequenced patients.

9 Mar 2021

Loss of functions in the PLD1 gene causes congenital heart disease

A team of researchers co-led by Michael Frohman, MD, PhD, of Stony Brook University, has identified an important cause of congenital heart disease.

2 Mar 2021

New results challenge the current understanding of medulloblastoma

Scientists at St. Jude Children's Research Hospital and their colleagues have published a detailed account of SJMB03, a clinical trial for pediatric patients with medulloblastoma.

28 Jan 2021

Mosaic mutations during embryonic development can cause autism spectrum disorder

Two studies in today's Nature Neuroscience, led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.

11 Jan 2021

Researchers detect novel IRAK4 mutations in infant with encephalitis and HHV6 reactivation

An infant's odd case of rare encephalitis not typically found in children led researchers to discover never before seen genetic mutations and a more accurate technique to examine the IRAK4 gene responsible for innate immunity.

22 Dec 2020

Researchers discover more accurate technique to study gene responsible for innate immunity

20 Dec 2020

Study highlights previously unknown mechanisms involved in myeloma resistance

A group of researchers led by Maximillian Merz, MD, Assistant Professor of Oncology with the Myeloma team at Roswell Park Comprehensive Cancer Center, conducted the first prospective clinical trial investigating spatial heterogeneity in patients with either relapsed/refractory or newly diagnosed multiple myeloma.

7 Dec 2020

UCLA Health collaborates with Regeneron Genetics Center to bring genomic medicine to patients

UCLA Health has entered into a collaborative research agreement with the Regeneron Genetics Center (RGC) to provide whole exome sequencing for 150,000 UCLA Health patients.

16 Nov 2020

COVID-19 hospitalizations and deaths skew towards older males of non-European ancestry

A team of researchers recently investigated the genetic determinants of COVID-19 risk and severity in humans.

6 Nov 2020

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.