GeneTrends™

• The Clinicians Approach to Genetic Testing for Autistic Children: Human Genome and Clinical Diagnosis: The Yin and the Yang… #
• TAZEEN AHMAD: Three of my uncles are deaf. Five aunts died as babies. Why? My grandparents were first cousins who married | Mail Online… #
• UCLA study identifies genetic variation linked to #lupus in Asian men http://ow.ly/2u3CA // more here http://ow.ly/2u3Fn #
• Concert for #Cystic Fibrosis http://ow.ly/2u3Or // more here http://ow.ly/2u3Q9 #
• #Down syndrome patients are living longer despite health challenges http://ow.ly/2u3Wf // more here http://ow.ly/2u3Yd #
• Evolution May Have Pushed Humans Toward Greater Risk for Type 1 #Diabetes http://ow.ly/2u4b0 // more here http://ow.ly/2u4cK #
• New study finds new genetic risk factor for #Prostate Cancer in men http://ow.ly/2uM1l / find out more at http://ow.ly/2uM28 #
• Research reveals a clearer picture of the genetic basis of #Autism http://ow.ly/2uM6v / more here http://ow.ly/2uM7a #
• Interesting article claiming that family history may not play as significant of a role in #Prostate Cancer as was assume http://ow.ly/2uMdk #
• New genomic test now available to predict whether a person will have active #Tuberculosis http://ow.ly/2uMjg #
• New genetic marker found which could indicate increased risk of #ALS http://ow.ly/2uMtN / more on the disorder at http://ow.ly/2uMsn #
• Researchers find 13 new genetic markers of #Celiac Disease http://ow.ly/2uMyj / more thoughts on Celiac Disease at http://ow.ly/2uMzo #

• A DNA Day Surprise http://ow.ly/2rqjf #
• Young Women Diagnosed With BRCA Genes — What Should They Do? http://ow.ly/2rAzC #
• St. Louis Jewish Light: Features – For two kinds of ‘survivors,' filling in the gaps on family medical history – http://ow.ly/2rAEu #
• The Power of Two Trailer (Ana and Isa's Amazing story) #Cystic Fibrosis http://ow.ly/2rAQj #
• Q&A: Illumina CEO on the future of genetic sequencing http://ow.ly/2rX49 #
• Canadian scientists discover pattern of DNA mutation in 40 diseases http://ow.ly/2s17J #

• Never thought I would see the day when I could buy a genetic test on Ebay http://ow.ly/2maCz #
• UCal Berkeley Pulls Back Freshman Gene Tests http://ow.ly/2pf3S #

Today, the National Society of Genetic Counselors released a statement regarding the sale of personal genetic testing kits through retail pharmacies in response to Pathway Genomics making their testing kits available through Walgreens and later, CVS pharmacies. From the statement:

NSGC recommends individuals ask the following questions before they consider undergoing
genetic testing:

1. What will the test tell me? Discuss with your genetic counselor what you would like to
learn from genetic testing. There are many different types of genetic tests. If the wrong
test is ordered, it may not give you information about your medical concerns.

2. What is the scientific basis for the testing? Some genetic tests provide more conclusive
results than others. Also, a genetic counselor can integrate the test results with your
medical and family history to provide more powerful and useful information.

3. What might you do with the information once you know the results? Consider the
implications of knowing the test results and the impact that could have on you and your
family, both medically, emotionally and in terms of life planning.

4. Will there be a knowledgeable health care professional involved with giving you the test
results? It is important that someone who has expertise in genetics helps you
understand and interpret your test results. For example, genetic counselors have
specialized training in medical genetics and counseling and have Master’s degrees
in their field.

• May is national neurofibromatosis awareness month. You can find more info on type 1 http://bit.ly/d6W77O and type 2 http://bit.ly/deYcMs #
• May is celiac disease awareness month. You can learn more about celiac disease at http://bit.ly/9zbfeO #
• May is national arthritis awareness month. To learn more about rheumatoid arthritis see http://bit.ly/a96m6x. #
• Today is Melanoma Monday! Remember to be screened for skin cancer. For more info on skin cancer see http://bit.ly/c2cRuN. #
• Vitiligo shares genetic roots with skin cancer http://bit.ly/b78AZO. We have more information on vitiligo available at http://bit.ly/aRRTFd. #
• Parkinson's disease studied with the help of zebrafish http://bit.ly/avxAEv. More on the genetics of Parkinson's http://bit.ly/b4TJSD. #
• New hope for Crohn's sufferers http://bit.ly/c7WQxGFor more on Crohn's see http://bit.ly/aX0ucj #
• Grandparents favor genetically close grandchildren http://bit.ly/aqH0q8 #
• The ancestry of one Afrikaner http://bit.ly/datTq1 #genealogy #

• Testing lung tumors tailors chemotherapy http://bit.ly/b8dCDG, for more on drug response testing, see http://bit.ly/aTwKlz #
• Genome Study of Aggressive Breast Cancer Yields Clues to Metastasis http://bit.ly/bp4kSH more on #breastcancer see http://bit.ly/1ANbK8. #
• @triblr I like @AccessDNA: 10 Startup Companies to Watch http://bit.ly/cm5Qzh / Much appreciated. in reply to triblr #
• Team Analyzes Quake Genome With An Eye Toward Clinical Utility http://bit.ly/bYIsC2 #

Sickle cell anemia (also called sickle cell disease or Hemoglobin SS disease) is a genetic condition that affects hemoglobin, the molecule in red blood cells that transports oxygen throughout the body. Affected people have a variation in hemoglobin called hemoglobin S, which can distort red blood cells into a sickle (or crescent) shape. These “sickled” cells do not last as long as normal, round red blood cells, which leads to anemia and can block blood flow by getting stuck in blood vessels, which may lead to pain and organ damage.

Additional symptoms may include: fatigue, delayed growth and development, yellowing of the eyes and skin (jaundice), and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension).

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• MS Views and News — Bridging the gap between #MS organizations http://bit.ly/971IpT #
• @TrailsofFreedom MS Views and News — Bridging the gap between MS organizations http://bit.ly/971IpT in reply to TrailsofFreedom #
• @walkMSmi MS Views and News — Bridging the gap between MS organizations http://bit.ly/971IpT in reply to walkMSmi #
• @jsmackenzie MS Views and News — Bridging the gap between MS organizations http://bit.ly/971IpT in reply to jsmackenzie #
• @aniaArt MS Views and News — Bridging the gap between MS organizations http://bit.ly/971IpT in reply to aniaArt #
• @pommesfrites MS Views and News — Bridging the gap between MS organizations http://bit.ly/971IpT in reply to pommesfrites #
• @Lynseychea884 info the genetics of MODY #diabetes http://bit.ly/6V3qkR in reply to Lynseychea884 #
• RT @MDLinx: Familial Risk of Cancer and Knowledge and Use of Genetic Testing: http://bit.ly/aandjV #GM #genetics #
• Gene test helps select breast cancer chemotherapy http://bit.ly/aB2yPd #breastcancer #
• Model of Genetic Epilepsy Shows which Neurons are Affected http://bit.ly/9a6h99 for more information on epilepsy see http://bit.ly/an0nWC #
• @featured_health Model of Genetic Epilepsy Shows which Neurons are Affected http://bit.ly/9a6h99 for more on epilepsy http://bit.ly/an0nWC in reply to featured_health #
• @destinymaker4u Model of Genetic Epilepsy Shows which Neurons are Affected http://bit.ly/9a6h99 for more on epilepsy http://bit.ly/an0nWC in reply to destinymaker4u #
• @pixxie13a Model of Genetic Epilepsy Shows which Neurons are Affected http://bit.ly/9a6h99 for more on epilepsy see http://bit.ly/an0nWC in reply to pixxie13a #
• Selecting healthy embryos through PGD — Portrait of an adoption http://bit.ly/bM4IFG. See also http://bit.ly/d0qKuG. #PGD #
• DNA to solve origins of Anglesey shipwreck survivors http://bit.ly/dBQBu9. For more on ancestry testing http://bit.ly/b4YWhI #
• What is eye melanoma? What causes eye melanoma http://bit.ly/buxwyn. For more on the genetics of eye cancer http://bit.ly/aI1iUz #
• @msamandakelly here is some info on Klinefelters that may be helpful: http://bit.ly/bYEKNh in reply to msamandakelly #
• Thanks for the RTs @suk211, @jsmackenzie, @Trisomy21online, @susanepi #

In the last couple of months, I have read an increasing number of news articles and comments to these articles filled with misconceptions about Down syndrome.  Here is my attempt to clarify some of them.

What is Down syndrome?

Down syndrome (also called Trisomy 21) is associated with mental retardation (mild to severe), a characteristic facial appearance, and low muscle tone (hypotonia) in infancy. People affected with this condition are at an increased risk for congenital heart defects, vision problems, digestive problems (such as gastroesophageal reflux or celiac disease), hearing loss, hypothyroidism, early-onset Alzheimer’s disease and cancer of blood-forming tissue (leukemia).

The  Truth

The truth is that although people with Down  syndrome share some key characteristics and risks, they are as different as you and me. For example -

• Most individuals have moderate mental retardation; however, some individuals do have severe mental retardation.

• Anyone can have a child with Down syndrome. The risk to have a child with Down syndrome increases with maternal age. During pregnancy, this risk may be modified by blood screening tests or ultrasound findings suggestive of Down syndrome.

• A blood screening test or ultrasound findings may increase the likelihood that the pregnancy is affected with Down syndrome, but these tests are not diagnostic. A fetal chromosome analysis obtained via CVS or amniocentesis is currently the only manner in which to diagnosis a pregnancy with Down syndrome.

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A couple of weeks ago, we started a series of posts profiling non-profit organizations that are helping families affected by genetic disease (including multifactorial disease).

Stuart Schlossman is President and Founder of MS Views and News, Inc.

What is MS Views and News?

We are dedicated to the global collection and distribution of current information concerning Multiple Sclerosis (MS). In collaboration with other organizations, MS Views and News uses state-of-the-art communication  channels to provide information for those affected by, or interested in MS.

We are a place where information and knowledge is provided for anybody affected by Multiple Sclerosis (MS). This includes the patients, caregivers, medical providers and/or anybody just interested in having availability to MS information. We help bridge the gaps to all major MS organizations.

What types of information and resources can someone find there?

Between our website, blog and e-newsletter, we have links to MS resources, MS videos,  a vast library of articles and news about MS as well as MS Facts and information in more than 11 different languages.

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