EGL Genetics Blog

Eleina Cox

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Latest Findings in Autism Research

Posted by Eleina Cox on Apr 19, 2017 3:00:00 PM

In 2007, the United Nations designated April 2nd as World Autism Awareness Day. Since 2013, all subcatergories of autism ( i.e. Asperger syndrome and pervasive developmental disorder not otherwise specified) have been placed 
under an umbrella diagnosis of autism spectrum disorder (ASD). With one in 68 children diagnosed with ASD, autism is a well-known medical condition, and awareness of it has permeated everyday life. In the United States, federal laws such as the Autism CARES Act of 2014, a bipartisan effort signed by President Obama, authorized more funding for research, assistance programs and provided protection for those living with ASD. In pop culture, movies such as Rain Man, have showcased leading characters with autistic features. Two weeks ago, Sesame Street, the American children’s television series, debuted Julia, its first muppet with autism, to the cast. As public awareness continues to grow, the importance of further research to better understand the etiology of autism becomes even more vital.

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Topics: Autism, awareness, Autism Spectrum Disorder, whole genome sequencing, research funding

New Evidence May Suggest Earlier Screening for Colorectal Cancers

Posted by Eleina Cox on Mar 8, 2017 3:00:00 PM

The National Cancer Institute (NCI) published an article indicating that since the mid-1980 and 1990's, colon cancer incidence rates have decreased in individuals 55 and older, while increasing in adults ages 20-50. This new evidence has prompted a discussion as to whether screening should start earlier than the current recommendation of 50 years old in a person with average risk. Recommendations for earlier screening have already been established for high-risk individuals, i.e. individuals with a first degree relative diagnosed with colorectal cancer before age 60. 

With the exclusion of skin cancers, the American Cancer Society reports colorectal cancer as the third most common cancer diagnosed in both men and women in the United States. The lifetime risk of developing colorectal cancer is about 1 in 21 for men and 1 in 23 for women; therefore earlier screening may increase prevention and lower the lifetime risks.

Individuals with a personal and/or family history of an inherited colorectal cancer syndrome have a higher risk than the general population to develop colorectal cancer, therefore screening is recommended at a much earlier age which can be specific to each syndrome. There are several syndromes associated with hereditary colorectal cancer. The three most common are Lynch syndrome, familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP), which account for up to 5% of all colon cancer cases. 

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Topics: genetic testing, colorectal cancer, cancer, screening, awareness, genetic counseling, advocacy, lynch syndrome, familial adenomatous polyposis

Brugada Syndrome: A Rare Cardiac Disorder

Posted by Eleina Cox on Feb 14, 2017 3:00:00 PM

In recognition of American Heart Awareness Month this February and Rare Disease Day on February 28th, this week's blog focuses on a rare cardiovascular disorder known as Brugada syndrome. 

Never heard of Brugada syndrome? 

Continue reading to find out more about this condition.

 

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Topics: cardiac disorders, rare disease, cardiovascular disorders, cardiogenetics, sudden death, syncope, heart, brugada, brugada syndrome, arrythmias, cardiac arrest

My Beautiful CHILD: Victor

Posted by Eleina Cox on Jan 18, 2017 3:00:00 PM


This week, the My Beautiful CHILD Spotlight is on Victor. He was diagnosed with Pitt-Hopkins Syndrome (PTHS), but his diagnosis has not stopped him from being a happy and outgoing child. Thank you to Victor's loving parents, Theresa and Paul for sharing his story. 

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Topics: My Beautiful CHILD

Thursday is National Family Health History Day!

Posted by Eleina Cox on Nov 22, 2016 1:53:24 PM

The holiday season has come around once again, bringing the opportunity to celebrate and join our beloved family members and remember those who have gone before us. This precious time also presents the opportunity to discuss and share family health history (FHH).  

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Topics: family health history

My Beautiful CHILD Spotlight on Gaucher Disease

Posted by Eleina Cox on Nov 10, 2016 11:11:00 AM

This month's guest blogger, Shea, shares a personal story about her youngest son, Lathan, whose health suddenly declined due to unknown circumstances. By sharing her story, Shea hopes to enlighten parents and others to always pay close attention and listen to health complaints made by children.  

My son Lathan has always been a special child. He is highly intelligent for a seven year-old, loves to play soccer and basketball, and is always full of energy. Over the years, he has always had what many doctors refer to as ‘toddler belly.’ As such, my husband and I never really thought it was cause for concern. One evening, Lathan refused to eat. He insisted that he was full after having only had a few bites. Stepping into the mean mommy role, I told him to eat or we would pay his pediatrician a visit. Normally this threat would serve to achieve the desired result, but not this time. He looked me straight in the eyes and said, “Mommy, I can’t eat.” In true, mean mommy fashion, I sent him to bed and took him immediately to the pediatrician the next day.

What we found was horrifying and began a lengthy search for the cause…his spleen was enlarged.

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Topics: Gaucher disease

Media Buzz Steers Genetic Testing Policy and Reimbursement

Posted by Eleina Cox on Oct 20, 2016 12:03:51 PM

From fashion, to homeland security and the presidential election, the media has a major impact on our daily lives. Though we may not notice it happening, the media also plays a significant role in our healthcare and health management. Take for example, in 2013; Angelina Jolie announced she had a mutation in the BRCA1 gene, which prompted her to undergo significant prophylactic surgeries to reduce her risks of developing breast and ovarian cancers. Angelina’s openness about her genetic status and personal health choices heavily influenced the demand for knowledge and testing for hereditary cancer throughout the United States.

Due to high media coverage and an increase in the number of individuals seeking genetic testing and counseling for hereditary breast and ovarian cancer (HBOC) syndrome, health insurance companies responded by improving financial coverage for individuals meeting certain testing eligibility criteria. These criteria are most commonly based on National Comprehensive Cancer Network (NCCN) Guidelines and include having a personal history of breast and/or other cancers, and/or having first and second degree relatives with a history of breast, ovarian, or other cancers. The criteria and amount of coverage may vary from one insurance company to the next, and even within plans offered by the same insurance company.

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Topics: genetic testing, awareness, breast cancer, rare disease, insurance coverage

My Beautiful CHILD: Zachary & Grace

Posted by Eleina Cox on Oct 4, 2016 11:00:00 AM

 

“It was clear to us that our children did not have random birth defects, but some sort of syndrome.” Parents who advocate for their children, especially those who are members of the “My Beautiful CHILD” community, may be all too familiar with this statement. Being aware and keeping track of your child's physical and development health, noticing differences, and having concerns can be understated necessities to parenting.

As you read this compelling story about Zachary and Grace, beautiful siblings diagnosed with a disabling genetic condition, you will be exposed to the difficult turns the diagnostic process can take and how their family has experienced numerous ups and downs. They overcame those obstacles to uncover their diagnostic footprint and discover how love and hope can shape a perfect family.

 

 

 

 

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Topics: Congenital Disorders of Glycosylation, CDG

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

 

 

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