Emory Genetics Lab Blog

CDG Care Mission and Purpose: Making a Difference in the CDG Community

Posted by Danyella Davis on Sep 15, 2016 11:00:00 AM

Thanks to Andrea Berarducci, CDG CARE President, Community and Parent Representative for this blog contribution in support of EGL's My Beautiful CHILD campaign.

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Topics: Congenital Disorders of Glycosylation

How Sickle Cell Disease Changed My Life

Posted by Danyella Davis on Sep 1, 2016 11:30:00 AM
According to the Center for Disease Control and Prevention (CDC), sickle cell disease (SCD):
  • Affects approximately 100,000 Americans.
  • Occurs in about one out of every 365 African-American births.
  • Affects about one out of every 16,300 Hispanic-American births.

But behind these statistics are children and families affected by this debilitating genetic condition. EGL and the "My Beautiful CHILD" community are pleased to support Sickle Cell Disease Awareness Month by promoting education and advocacy for those impacted by SCD, and sharing stories such as this month's featured "My Beautiful CHILD," Nazhi. A powerful 12-year old shares her journey with SCD and her early contribution back to others impacted by this genetic condition.


Our thanks to Nazhi, our youngest blog contributor and recent participant in the EGL My Beautiful CHILD campaign.

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Topics: Sickle Cell Disease

Spinal Muscular Atrophy Community Celebrates SMA Awareness Month in August

Posted by Danyella Davis on Aug 11, 2016 12:00:00 PM

Thanks to Colleen McCarthy O'Toole with Cure SMA for this blog contribution that first appeared in Global Genes.

What is spinal muscular atrophy, who is affected, and how can you make a difference? To learn more, click here. 

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Topics: neuromuscular disorders, Spinal muscular atrophy

Genetic Testing for Duchenne & Becker: When Is Re-Testing Needed?

Posted by Danyella Davis on Jun 24, 2016 1:49:06 PM
Emory Genetics Laboratory is proud to provide genetic testing for Duchenne and Becker muscular dystrophy as part of Parent Project Muscular Dystrophy (PPMD). Lauren Bogue, MS, CGC recently posted a blog regarding the need to retest patients for Duchenne and Becker muscular dystrophy. To read more, click here.
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Topics: genetic testing, Duchenne

Exome Del/Dup Analysis: What You Are Not Analyzing May Hold the Answer

Posted by Eleina Cox on Jun 16, 2016 11:00:00 AM

Exome sequencing is a recent addition to the routine clinical genetic testing. This technology allows for the simultaneous testing of thousands of genes; making it essentially the largest multi-gene panel available. The diagnostic detection rate for exome sequencing has been reported as 25-30%, by clinical genetics laboratories. But what can be done for those patients who did not find an answer via exome sequencing? Those remaining 70-75% of individuals, along with their clinicians, must wonder, “so what now?” 

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Topics: genetic testing, exome sequencing, Medical EmExome, Deletion/duplication

Freeing the Data with EmVClass: Variant Classification Database

Posted by Eleina Cox on Jun 2, 2016 12:00:00 PM
EmVClass is an abbreviation for Emory Genetics Laboratory's Variant Classification Catalog. EGL is the only clinical genetics laboratory offering free, online, no registration required, open-access to all sequence variants detected and analyzed by the lab. EmVClass serves as a model for “Freeing the Data,” a campaign to encourage clinical genetics laboratories to share data, in which variants are identified and classified accordingly. Being a major data contributor to NCBI's ClinVar, EGL supports the sharing of variants to advance research designed to identify potential treatments for genetic conditions. Continue on to learn how to use EmVClass.
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Topics: variant classification, variant interpretation, EmVClass

World Renowned LHON Expert Discusses Clinical Trial

Posted by Danyella Davis on May 26, 2016 11:00:00 AM

Dr. Nancy Newman of the Emory University School of Medicine talks passionately about her expertise

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Topics: LHON, Emory University School of Medicine, clinical trial, healthy vision month

The Genetic Counselor Corner - Focus on the Eye Clinic

Posted by Eleina Cox on May 19, 2016 11:00:00 AM

To continue our discussion about inherited eye diseases during Healthy Vision Month, I had the pleasure of speaking with Sarah Richards, a clinical genetic counselor who has worked in the Ophthalmic Genetics Clinic at The Emory Eye Clinicfor the last 3 years. Sarah worked under Dr. Suma Shankar, a genetic ophthalmologist who is an Assistant Professor for the Departments of Human Genetics and Ophthalmology at Emory University School of Medicine and serves as the Medical Director for Emory Genetics Laboratory.

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Topics: Inherited Eye Disorders, ocular genetics, genetic counseling

Mother Turned Advocate After Son’s LHON Diagnosis

Posted by Danyella Davis on May 12, 2016 9:00:00 AM

How does a 19-year-old college sophomore go from 20/20 vision to legally blind in 2 months?

 Jeremy Poincenot, a San Diego State University student, received a shocking, life altering diagnosis just months after expressing concern of blurred vision. A diagnosis that set his mother, Lissa Poincenot, on a path of advocacy to connect patients to thought leaders and supply resources and support.

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Topics: Inherited Eye Disorders, LHON

AAO Recommendations for Genetic Testing of Eye Disorders

Posted by Eleina Cox on May 5, 2016 11:00:00 AM

In 2014, the American Academy of Ophthalmology (AAO) Task Force on Genetic Testing published recommendations for the testing of inherited eye disease. These recommendations are intended for ophthalmologists and other eyecare specialists considering testing patients who meet a specific genetic diagnosis, based on clinical findings. The Task Force addressed key points, such as when to order genetic testing for single-gene and complex eye disease, whether children should be tested, and how the use of genetic technologies may assist in the diagnosis of eye disease.

Continue reading for a summary of The AAO Task Force Recommendations.

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Topics: genetic testing, Inherited Eye Disorders, ocular genetics