The Family Genes™

• Research at the DDC Clinic may have ID'd gene mutation linked to form of dwarfism in Amish #genetics http://ow.ly/4GtCH #
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• The Jewish Chronicle – Parkinson’s treatments on the horizon as Ashkenazi Jews cope with the diseasehttp://ow.ly/4GvbI #
• We are excited to announce that @InformedDNA has acquired @InheritedHealth. For more information, go to http://ow.ly/4J7kM #

• Kelly: 'Devastating' genetic disorder strikes Elmwood Park brothers #Hunter @genetics http://ow.ly/4tQpO #
• NIH study finds genetic clues to major cause of kidney disease worldwide http://ow.ly/4tQs4 #

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March is National Colorectal Cancer Awareness Month

As March is National Colorectal Cancer Awareness Month, it is a good time be reminded that an estimated 15%-20% of all colorectal cancer cases are believed to be hereditary (passed down in families), and about 3% of all cases are believed to caused by a condition called Lynch syndrome.

What is Lynch Syndrome?

Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is associated with a predisposition to cancers of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk to develop cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Affected women also have a high risk to develop cancers of the endometrium (lining of the uterus) and ovaries.

• First degree relatives (parents, children, sisters, brothers) of people with Lynch syndrome have a 50% chance to also have Lynch syndrome.
• Second and third degree relatives, such as grandparents, aunts, uncles, cousins, nieces and nephews, are also at increased risk.

Once a mutation that causes Lynch syndrome has been identified, other family members have the option of persuing genetic testing to determine if they also have the mutation. Relatives with a Lynch syndrome mutation can lower their overall risk of developing or dying from colorectal cancer by having earlier and more frequent colonoscopies.

Read the rest of this entry »

• Doctors should use us more often: geneticist #genetics #rare disease http://ow.ly/44f7n #
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• House loses patient with rare genetic disease: Muckle-Wells syndrome #house #genetics http://ow.ly/45HJd #
• Thanks for RTs and Mentions! @MeliLABO @jtithofsteere @Wise_Diva @NegativeBRCA @renelaennec @science4care #
• ACOG says Family Health History Is Important Screening Tool for women http://ow.ly/46r7p // that's why we created http://ow.ly/46raP #
• House dx yet another rare genetic disease: Muckle-Wells syndrome #HouseMD #genetics http://ow.ly/46rxg #
• BRCA diagnostic testing isn't what it used to be : A New 'Generation' of tests out there http://ow.ly/46uAZ #
• Solving the puzzle of Henry VIII : He had #Genetic Blood Disorder http://ow.ly/47xd6 #

Our blog is a resource for people and families looking for information on hereditary (inherited) disease and interesting news in health and genetics. Inherited Health’s Family Health History tool makes it easy for families to collect and maintain their family medical history. With this tool, you can make a family tree of your health and get guidance on inherited disease risks in your family, which we identify for you. Start taking charge of your health.
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At the end of last night’s episode, House was torn between his love for Cuddy and his ability to somehow save every patient he ever treats.  This week’s patient, Bert, presented with a rash, hearing loss, kidney failure, fever and hallucinations; however, House’s diagnosis of  Muckle-Wells syndrome came a little too late.

What is Muckle-Wells syndrome?

Muckle-Wells syndrome is a genetic disease characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder.

People with Muckle-Wells syndrome have recurrent “flare-ups” that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis).

Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

More on Muckle-Wells syndrome

Muckle-Wells syndrome is caused by mutations in the the NLRP3 gene (also known as CIAS1). The condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the inheritance pattern is unknown.

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• @jessicasreading need to know more of the family health history first. use our FHH tool. it will give you some answers http://ow.ly/3ZlQa #
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Our blog is a resource for people and families looking for information on hereditary (inherited) disease and interesting news in health and genetics. Inherited Health’s Family Health History tool makes it easy for families to collect and maintain their family medical history. With this tool, you can make a family tree of your health and get guidance on inherited disease risks in your family, which we identify for you. Start taking charge of your health.
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If you have a family history of breast cancer, it is important to talk with your doctor about when you should begin receiving regular breast cancer exams and/or mammograms.

It is important to speak with a cancer genetic professional or counselor, if you have a personal or family history of one or more of the following:

• Early-onset breast cancer, which is breast cancer that is diagnosed under age 50
• Ovarian cancer at any age
• Two or more primary breast cancers in the same person
• Breast and ovarian cancer in the same person
• Male breast cancer
• Breast cancer at any age and of Ashkenazi Jewish ancestry
• Multiple cases of breast, ovarian, prostate and/or pancreatic cancer

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Our blog is a resource for people and families looking for information on hereditary (inherited) disease and interesting news in health and genetics. Inherited Health’s Family Health History tool makes it easy for families to collect and maintain their family medical history. With this tool, you can make a family tree of your health and get guidance on inherited disease risks in your family, which we identify for you. Start taking charge of your health.
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I am obsessed with the television show House.  Even though the stories are exaggerated and often filled with clinical inaccuracies, the most difficult and perplexing cases inevitably end up having a genetic cause.

For example — take last night’s episode about a women with obsessive compulsive disorder, chorea,  kidney failure, etc. House’s diagnosis: McLeod neuroacanthocytosis syndrome

Also known as McLeod syndrome, McLeod neuroacanthocytosis syndrome is a genetic disorder that occurs almost exclusively in males (sorry House MD). This disorder affects movement in various parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

McLeod syndrome is rare. As only 150 cases have been reported worldwide, you can imagine it is not a commonly searched disease on the Inherited Health website. However,  this morning I was excited to see that the most popular destination yesterday on the Inherited Health website was our page on McLeod syndrome — representing over 13% of all pageviews.

The most common searched keywords were:

• mcleod syndrome symptoms
• mcleod syndrome
• mcleods disease symptoms
• mccloud’s syndrome
• symptoms mcleod syndrome
• mcleod syndrome” symptoms + disorder
• +mcleod’s syndrome
• a disease known as mcleod syndrome
• autoimmune disease mcleod
• macleod’s syndrome

It seems like there is really something to be said about the power of television.

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Our blog is a resource for people and families looking for information on hereditary (inherited) disease and interesting news in health and genetics. Inherited Health’s Family Health History tool makes it easy for families to collect and maintain their family medical history. With this tool, you can make a family tree of your health and get guidance on inherited disease risks in your family, which we identify for you. Start taking charge of your health.
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Whenever possible, genetic testing should be performed on the person in the family who is most likely to have a BRCA1 and BRCA2 mutation or other type of hereditary cancer syndrome. If a mutation is found in that person, genetic testing can then be offered to family members without cancer to determine their cancer risks.

It is important to understand that positive genetic testing does not mean that cancer is inevitable. If a woman does test positive for a mutation, there are some steps she may want to take. There are the options of more rigorous screening, preventive medications as well as removal of the ovaries and/or breasts in order to decrease her cancer risk.

On the other hand, negative genetic testing does not mean that a person will never develop cancer. In some cases, negative genetic testing may not even lower breast or ovarian cancer risk if other factors, like a strong family history, are still present.

Genetic testing for hereditary cancer can be complex. As such, it is important to speak with a trained genetic professional who can discuss the risks, benefits, and limitations of all genetic testing options as well as any possible screening and preventative measures.

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