EGL Genetics Blog

The LHON Genealogy Project

Posted by Danyella Davis on May 10, 2017 3:15:00 PM

As a 11778G>A mutation carrier, Lissa Poincenot, founder of LHON.org, is forever connected to the Leber hereditary optic neuropathy (LHON) community.

After her son’s diagnosis in 2008, this mother turned advocate was determined to provide resources, tools, and easily accessible information to carriers and those diagnosed with LHON.

In her continued quest to find a cure by connecting research and LHON patients, Poincenot recognized a void.

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Topics: Inherited Eye Disorders, LHON, Global Genes Rare Patient Impact Grant, Leber hereditary optic neuropathy, eye disease, optic atrophy

The Value of Test Turnaround Time

Posted by Derek Stevens on May 3, 2017 3:33:00 PM

 

While most molecular genetic test results are not needed immediately to alter patient care, we realize getting to a result faster is clinically important. The time required to report a case may be impacted by the size of the gene, the number of genes on a panel, the testing methodology employed, the need to reanalyze a portion of a gene that is difficult to sequence, and the research time needed to properly interpret findings. It’s important that all diagnostic laboratories strike a correct balance between these factors and clinical need.

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Topics: improved turnaround time, NGS panels

The Autism Dad — A Proud Father

Posted by Danyella Davis on Apr 26, 2017 3:18:00 PM

Thank you to this month's guest blogger, Rob Gorski, for sharing his family's story.  
My name is Rob Gorski, father to three with autism, husband to my best friend and creator of the multiple award-winning blog, The Autism Dad. I have been an Autism Dad for over fifteen years and learned a great deal along the way.

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Topics: Autism Spectrum Disorder, the autism dad

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

Defying Limitations for Autism Spectrum Disorder

Posted by Danyella Davis on Apr 12, 2017 3:00:00 PM

Thank you to this month's guest blogger, Kanetra Woods, for sharing her son's journey. 

 

In light of National Autism Awareness Month, we're excited to have the opportunity to set aside a series of blogs that will educate the medical and patient communities about autism spectrum disorder, a developmental disability that ranges in severity and symptoms, and is nearly 5 times more common in boys than in girls. 

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Topics: Autism Spectrum Disorder

Beating the Odds — 35 Years with Trisomy 18

Posted by Danyella Davis on Apr 5, 2017 11:00:00 AM

Thank you to this week's "My Beautiful CHILD" guest blogger, SOFT President Barbara VanHerreweghec, for sharing her daughter's trisomy 18 journey. 

Our story started 35 years ago. We had waited eight years for the birth of our first child.  Just like anyone else carrying a baby, we thought that everything would be perfect. The time finally came for our first child to be born. On May 21st, our little bundle of joy was born, a girl, weighing 4 lbs 8 1/2 ounces. She was adorable.

She was born at a small hometown hospital in Brockport, NY. We spent every minute with her even when they discharged me and said she needed to stay and gain a little weight. After 10 days, we took her home from the hospital. Everyday was a struggle to get in enough food. Her doctor told us he wanted to get her in for genetic testing, but didn't provide the reasoning behind his logic. 

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Topics: trisomy 18, Edwards Syndrome, Support Organization for Trisomy 18, 13

In Memory of Aaron — How You Changed Our Lives 

Posted by Danyella Davis on Mar 29, 2017 11:00:00 AM

Thank you to this month’s blog feature by Leah and David Bultema; David is the Executive Director and Founder of The AaronStrong Foundation.

Hope. Faith. Family. These three things have been our focus and have strengthened tremendously through Aaron’s journey. Although we could've easily chosen a path leading to destruction following the loss of our son, we instead chose a path of recovery. That choice made one of the toughest times of our lives one of the greatest blessings.

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Topics: Down syndrome, aaronstrong foundation, trisomy 18, Trisomy 21, Edwards Syndrome, Aneuploidy

Divide, Recombine, Repeat With Dr. Sherman

Posted by Danyella Davis on Mar 22, 2017 11:00:00 AM

This week, EGL Genetics is featuring published work by Dr. Stephanie L. Sherman, Professor in the Department of Human Genetics and Co-Director of the Down Syndrome Center at Emory University.

Dr. Sherman's more recent research identifies gene-environment interactions associated with the causes and consequences of trisomy 21 and meiotic recombination. 

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Topics: Down syndrome, Meiotic recombination

Trisomies: More Common Than You Think

Posted by Danyella Davis on Mar 15, 2017 3:00:00 PM

Chromosomal abnormalities are common causes of birth defects that can affect neurological functions and various parts of the human body. Accounting for nearly 20% of all infant deaths, birth defects are the leading cause of infant mortality, according to the Centers for Disease Control And Prevention.

Three of the most common newborn aneuplodies are trisomies 13, 18, and 21. About one in 5,000 babies is born with trisomy 18, one in 16,000 is born with trisomy 13 and one in 700 babies is born with trisomy 21, the most frequently occurring chromosomal abnormality. Although women of all ages may have a child with trisomy 13, 18, or 21, the risk  increases with advanced maternal age

March was named National Trisomy Awareness Month to increase awareness of trisomy conditions and to provide resources and support to the trisomy community, as families are often ladened with uncertainty, anxiety, and sometimes, loss.

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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

 

 

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