EGL Genetics Blog

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

Meet the Team: Spotlight on Emory's Down Syndrome Clinic

Posted by Derek Stevens on Oct 27, 2016 11:11:00 AM

October is Down Syndrome Awareness month. Down syndrome is the most commonly occurring condition that is caused by changes in a person’s chromosomes. Specifically, it is caused by having three copies of chromosome 21 instead of two. One out of every 691 babies born in the United States is born with Down syndrome.

All people with Down syndrome experience some degree of intellectual disability. This means they will learn more slowly than other people. Children with Down syndrome will learn to do most things that other children do, but they will do them later than their peers.

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Topics: awareness, Down syndrome, Down Syndrome Clinic at Emory

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

October is Gaucher Disease Awareness Month!

Posted by Derek Stevens on Oct 13, 2016 11:00:00 AM

October is designated as Gaucher Disease Awareness Month and to increase awareness, we invited guest blogger, Dawn Laney, the founder and CEO of ThinkGenetic.com and a certified clinical genetic counselor, to share important information about this metabolic disorder. As you read her contribution, we hope you learn helpful information about Gaucher disease and where to find invaluable resources.

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Topics: awareness, Gaucher disease, rare disease

The Marcus Autism Center Discusses Research and Mission

Posted by Danyella Davis on Apr 28, 2016 11:00:00 AM

The Marcus Autism Center is one of the largest clinical centers for autism care in the U.S., impacting nearly 10,000 kids a year outside its walls and 5,000 at its Briarcliff location. This outpatient facility continues to create innovative treatments through impactful research.

The prevalence statistics can be staggering: at 1 in 68 children in the U.S., the rate of autism spectrum disorders (ASD) are higher than that of all childhood cancer, juvenile diabetes, muscular dystrophy, and cystic fibrosis cases combined. Marcus Autism Center is striving to make autism an issue of diversity, not one of disability.

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Topics: Autism, awareness

 

 

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