Exome Sequencing News and Research

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Researchers find rare genetic variants that may help explain longevity in some CF patients

Cystic fibrosis is an inherited disorder caused by genetic mutations that disrupt the normal movement of chloride in and out of cells. Among other health problems, cystic fibrosis compromises the lungs' ability to fight infection and breathe efficiently, making it the most lethal genetic disease in the Caucasian population. Patients have an average lifespan of just 30 to 40 years.

25 Oct 2017

Investigating new cancer therapy candidates with live-cell imaging

There are two main things that we've worked on in the lab as regards to drug studies. One is identifying new combinations of drugs, and working on why a combination of drugs should work better than each alone.

From Sartorius 16 Oct 2017

Study findings provide new insight into inflammatory bowel disease

Findings from a study into Crohn's disease, led by William G. Kerr, Ph.D., of SUNY Upstate Medical University, and his collaborators at the Erasmus Medical Center in the Netherlands, provide the first evidence that patients with debilitating inflammatory bowel disease lack sufficient quantities of a protein that comes from the SHIP1 gene.

6 Oct 2017

Researchers pinpoint genetic drivers of diffuse large B cell lymphoma

Lymphoma is the most common blood cancer, but the diagnosis belies a wildly diverse and little understood genetic foundation for the disease that hampers successful treatment.

5 Oct 2017

UI scientists discover gene linked to fatal renal agenesis in children

A team led by University of Iowa researchers has identified a gene linked to rare, often fatal kidney-related birth defects.

18 Sep 2017

Coimbra Pediatric Hospital selects Congenica's Sapientia software platform for In2Genome project

Congenica, a global provider of clinical genomics interpretation software, today announced a new customer partnership with the Coimbra Paediatric Hospital, a leading paediatric hospital in Portugal and part of the Coimbra Hospital and University Centre.

7 Sep 2017

Novel, ultra-rare damaging genetic variants may contribute to eating disorders

By combining whole exome sequencing, machine learning, and network analysis, researchers have identified new, ultra-rare gene mutations within specific biological pathways that may contribute to eating disorders.

5 Sep 2017

St. Jude creates world’s largest collection of pediatric solid tumor samples

In an effort to improve outcomes for patients with some of the deadliest childhood cancers, St. Jude Children's Research Hospital scientists have created the world's largest collection of pediatric solid tumor samples, drug-sensitivity data and related information and have made the resource available at no charge to the global scientific community.

31 Aug 2017

PerkinElmer introduces affordable clinical genomics services

PerkinElmer, Inc. , a global leader committed to innovating for a healthier world, today announced the launch of PerkinElmer Genetics' clinical genomics services.

3 Aug 2017

Expert outlines pros and cons of ordering various genetic tests

The amount of information gathered via next-generation sequencing has made the diagnosis of genetic disorders quicker and more accessible to clinicians than ever before, but with expanded testing options come questions about ordering the correct type of testing.

2 Aug 2017

Mutations arising after conception may play vital role in autism

A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism.

17 Jul 2017

CHOP researchers pinpoint WDR26 haploinsufficiency as cause for rare genetic syndrome

Researchers have identified a rare genetic syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features.

6 Jul 2017

Study: Personalized neoantigen vaccine stimulates strong anti-tumor response in melanoma patients

A personal cancer treatment vaccine that targets distinctive "neoantigens" on tumor cells has been shown to stimulate a potent, safe, and highly specific immune anti-tumor response in melanoma patients, report scientists from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard.

5 Jul 2017

Proteins impeding antitumor immunity could be 'Achilles heel' of some cancers

By comparing variations in protein expression in tumor samples from a single melanoma patient, researchers from the Johns Hopkins Bloomberg~Kimmel Institute and the Memorial Sloan-Kettering Cancer Center say their findings have the potential to reveal some of the mechanisms underlying response or resistance to immunotherapy drugs.

28 Jun 2017

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic methods discover the disease late in its development.

14 Jun 2017

IDT and Illumina collaborate to provide improved solutions for next generation sequencing market

Integrated DNA Technologies today announced a broad partnership with Illumina, Inc. to provide improved library preparation multiplexing and target enrichment solutions for the next generation sequencing market.

31 May 2017

International consensus addresses research bottlenecks to diagnose rare genetic diseases

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.

4 May 2017

$New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds$

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

A team of researchers of the University of Barcelona and the Hospital del Mar Medical Research Institute have discovered a new mutation that has an impact on the bone so that it is vulnerable to the bisphosphonate, a drug used to treat osteoporosis.

4 May 2017

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Whole-exome DNA sequencing -- a technology that saves time and money by sequencing only protein-coding regions and not the entire genome -- may routinely miss detecting some genetic variations associated with disease, according to Penn State researchers who have developed new ways to identify such omissions.

24 Apr 2017

Researchers identify 26 novel genes linked to intellectual disability

Researchers at the Centre for Addiction and Mental Health and Queen's University have identified 26 new genes linked to intellectual disability. Currently most patients with intellectual disability receive no molecular diagnosis, which significantly affects their health and shortens their lifespan.

11 Apr 2017