The Father of Genetics: Gregor Mendel

When my son was diagnosed with congenital nystagmus as an infant, I became increasingly interested in heredity or the passing of phenotypic traits from parents to their offspring. Both my brothers also have nystagmus and it was now clear that I carry the gene as does my daughter.

The Father of Genetics, Gregor Mendel @EvaVarga.net

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Nystagmus is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males.

Genetics is the study of genes, heredity, and genetic variation in living organisms.

Single gene inheritance is also referred to as Mendelian inheritance as it follows transmission patterns Gregor Mendel, a late 19th-century scientist and Augustinian friar, observed in his research on peas. As a result of his work, he is known as the Father of Genetics.

Mendel studied ‘trait inheritance’ or how different traits are passed on from parents to their children. He observed that organisms (pea plants) inherit traits by way of discrete “units of inheritance”. This term is a somewhat ambiguous definition of what is referred to today as a gene.

The four types of Mendelian inheritance patterns he described include:

Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs of autosomes (non-sex determining chromosomes).

X-linked: the gene that encodes for the trait is located on the X chromosome.

Dominant: conditions that are manifest in heterozygotes (individuals with just one copy of the mutant allele).

Recessive: conditions are only manifest in individuals who have two copies of the mutant allele (are homozygous).

Biography

The Father of Genetics, Gregor Mendel @EvaVarga.netJohann Mendel was born July 20, 1822, in Heinzendorf bei Odrau, a small village in the Czech Republic (formerly the Austrian Empire). His parents were small farmers who made financial sacrifices to pay for his education.

He entered the University of Olomouc in 1840. He took courses in physics, mathematics and philosophy. He was advised by a professor to join the Abbey of St. Thomas in Brünn as a monk when he was 21 years of age to help offset the cost of his education.

The Abbey actually had a good reputation for its teaching of sciences, and its director, Abbot Franz Cyril Napp, was particularly interested in heredity of traits in plants and animals on farms. Upon joining the Abbey, he took the name Gregor.

My scientific studies have afforded me great satisfaction; and I am convinced that it will not be long before the whole world acknowledges the results of my work.  ~ Gregor Mendel

After completing his studies, he returned to the monastery in 1854 and took a position as a physics teacher at a school at Brünn, where he taught for the next 16 years. The monastery had a 5 acre garden, and two former professors encouraged Mendel to pursue his interest in heredity by using the garden for experiments.

Mendel set himself the very ambitious task of discovering the laws of heredity. To achieve this, he embarked on a highly systematic, eight year study of edible peas, individually and carefully recording the traits shown by every plant in successive generations. His work involved growing and recording the traits in about 30,000 plants.

One of the keys to his success was breeding from closely related pea varieties which would differ in only a small number of traits. The seven traits of pea plants that Mendel chose to study: seed wrinkles; seed color; seed-coat color, which leads to flower color; pod shape; pod color; flower location; and plant height.

In 1866, he published his heredity work, though it was not immediately recognized for the wealth of information it contained.

Bring it Home

? Explore genetics in more depth with a Genetics Unit Bundle from Amy Brown.

? Use M&M’s to visually see the genetic probability that an offspring will carry a certain trait. Just don’t each them all before you finish!

? Explore the genetics of sickle cell disease through Punnett squares, pedigrees, and an optional chi-square analysis with this classroom activity from the Howard Hughes Medical Institute.

? Enjoy this 3-D animation, available in both basic and advanced detail, which depicts the molecular machinery responsible for quickly and accurately copying DNA.

? Here is a cute video of an interview with Gregor Mendel from Untamed Science.

? Download the free printables from Stephanie Harrington and enjoy the book Gregor Mendel: The Friar Who Grew Peas.

? Create a DNA model of your own using pipe cleaners and beads or if you prefer, Lego bricks.

? Erect a DNA Double Helix Table Sculpture Puzzle

? If you still have those M&Ms, consider this Easter egg and M&M genetics activity from All Things Beautiful!

Science Milestones

Visit my Science Milestones page to learn more about scientists whose discoveries and advancements have made a significant difference in our lives or who have advanced our understanding of the world around us.

The bloggers of the iHomeschool Network have teamed up to create fun and original unit studies on fascinating people who were born in July.

Why We Declined the Ice Bucket Challenge

My son was the first in our family to receive a nomination to take the ALS Ice Bucket Challenge. As a nine year old, he wasn’t aware of this phenomenon that has swept the country.

I had given the challenge some thought before my son was nominated – wondered how I would respond if I were nominated as I assumed I would be soon enough, as active as I am on social media. I didn’t expect that he would be nominated first.

Charitable giving is something we work hard to instill in our children. We talk about finances at our monthly family meeting and engage the kids in budget decisions. We encourage the kids to select causes that are dear to their hearts and expect them to give annually.

Last year, my son baked and sold cupcakes to raise awareness – and $63 in funds – for Nystagmus on Wobbly Wednesday. Soon thereafter, my daughter donated $50 of her own money to the Haiyan Hurricane Relief Fund.

The Ice Bucket Challenge

The Ice Bucket Challenge is an effort to raise funds for amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig’s disease. It’s an extremely devastating neuro-degenerative condition that affects nerve cells in the brain and spinal cord. According to the ALS Association, approximately 5,600 people in the U.S. are diagnosed each year, and the average life expectancy is about two to five years from that point.

Between July 29 and Aug. 21, the ALS Association had received $41.8 million in donations, compared to just $2.1 million during the same time period last year. This is a prime example of social-media outreach benefits, and I don’t think there’s a person in the world who could downplay that success.

The Ice Bucket Challenge process is simple. Once you are nominated, you have 24 hours to complete the same task. Dump a bucket of ice water over your head and then pass it along by naming others to do the same. If you don’t follow through within the timeframe, you are expected to donate $100 to the cause.

ice bucket challengeice bucket challengeice bucket challenge

ice bucket challenge

Photo by Moko

Getting Nominated

When I explained to my son that he had been nominated, he was at first perplexed.  I then shared with him the video whereby his friend nominates him for the challenge and he became very upset.  “I don’t want to do this!” he exclaimed with fear in his voice.

First and foremost, I am certainly not going to coerce my child to follow through on some dare – even if it is for a good cause. I want him to have the courage to stand up for himself and say no.

As we talked about it, he and his sister expressed their feelings clearly. They both felt it was a tremendous waste of water, especially here in NorCal where we are experiencing a drought.

There are about 800 million people in the world who don’t have access to clean drinking water – my kids have seen this first hand while traveling in China. Dumping a clean bucket of water on our heads just seems crazy and insensitive.

We brainstormed alternatives – bringing a bucket to the lake during sailing class and dumping a bucket of lake water over our heads – but even then he was opposed. I didn’t push it. I want him to trust that his words and feelings will be validated.

Raise Awareness

I am deeply saddened, however. First, I am disappointed that it takes getting publicly called out for someone to donate to a specific cause.

When my son was attempting to sell cupcakes to raise money for Nystagmus, it was if we were asking people to pull their sweet tooth! The Ice Bucket Challenge is not just raising awareness, it’s bullying.

People should feel led to give because they want to do their part. They should feel like their efforts are making a difference and that their contribution is appreciated.

I am also now beginning to see spin-offs, local non-profits and youth sports teams, for example, attempting to capitalize on the success of this phenomena. This rubs me the wrong way.

Charitable Causes Dear to Us

During our discussions as a family, we expressed a hope that this challenge could serve as an opportunity to raise awareness about all charities with which the public may not be familiar.

We thereby selected a few causes dear to us that we would like to share with you, especially since their respective “awareness” times are approaching.

November 5th is Wobbly Wednesday – a day set aside to raise awareness for Nystagmus. Nystagmus is a condition of involuntary eye movement, acquired in infancy or later in life, that may result in reduced or limited vision. Due to the involuntary movement of the eye, it is often called “dancing eyes” or “wobbly head’.

My son was diagnosed when he was just a few months old. Both of my brothers were also diagnosed as children.  Though Nystagmus is not as debilitating a disease as ALS, it is is one by which we are personally affected.

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October is Dysautonomia Awareness Month. The most common form, Postural Orthostatic Tachycardia Syndrome (POTS), is thought by the Mayo Clinic to affect 1 in 100 teens, and at least 500,000 -1 million people in the United States.

Dysautonomia commonly causes issues with heart rate and blood pressure, and changes when a person stands up. So, many people with various forms of dysautonomia faint, or feel like they are going to faint. They can also have a very fast heart rate that is frightening, extreme fatigue, problems with digestion, memory, and many other unconscious bodily functions.

The symptoms vary based on the disorder and every individual is different. This makes it hard for some doctors to recognize, and often patients are left thinking it’s anxiety, or all in their head. Women are affected more than men (an estimated 5:1 ratio), and many people are left completely disabled. Some of the more rare forms are fatal. To learn more about POTS, visit Dysautonomia International, Inc.

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Crohn’s and Colitis Awareness Week is December 1-7. Crohn’s disease and ulcerative colitis are both major categories of Inflammatory Bowel Diseases (IBD), affecting an estimated 1.4 million Americans. These chronic diseases tend to run in families and they affect males and females equally. While IBD can affect anyone, Caucasians are more likely than other ethnic groups to have IBD.

It is often difficult to diagnose which form of IBD a patient is suffering from because both Crohn’s Disease and ulcerative colitis cause similar symptoms. To learn more about IBD, visit the Crohn’s & Colitis Foundation of America website.

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May is Celiac Awareness month. Celiac disease is an autoimmune disorder that can occur in genetically predisposed people where the ingestion of gluten leads to damage in the small intestine.  It is estimated to affect 1 in 100 people worldwide.

Celiac disease can develop at any age after people start eating foods or medicines that contain gluten. Left untreated, celiac disease can lead to additional serious health problems. These include the development of other autoimmune disorders like Type I diabetes and multiple sclerosis.

Pay it Forward

After much deliberation, my son declined the nomination to take the ALS Ice Bucket Challenge and as a family, we vowed to stand by him. Instead, we used this as an opportunity to teach the kids about ALS, one of the most traumatic and heartbreaking diseases out there.  We will most definitely be making a monetary contribution.

The Ice Bucket Challenge was indeed a success.  It helped to not only raise funds but also raise awareness.  At least in this home.

Whatever cause is dear to your hearts, volunteer, donate when your situation permits, and do your part to raise awareness. If you choose to do that after dumping a bucket of icy water on your head, it’s your call. Just don’t stop once the water dries and the social media frenzy moves on to the next craze.

 

Wobbly Wednesday: Raising Awareness One Cupcake at a Time

November 6th was International Nystagmus Awareness Day or more affectionately, Wobbly Wednesday. Nystagmus is an involuntary movement of the eyes which often seriously reduces vision.  For those unfamiliar with the condition, they have the impression that the person is always shaking their head as if to say, “no”.

Wobbly Wednesday

My son was diagnosed with Congenital Nystagmus when he was just an infant. I have written about our experiences previously, Raising Awareness for Nystagmus.  To help raise awareness as well as funds for research and scholarships, my son asked to bake cupcakes.

My kids love cupcakes and with the inspiration of Pinterest, they worked together to bake three delicious varieties and raised $68.  I am so very proud of their efforts!

Wobbly Wednesday: Raising Awareness for Nystagmus

What is Nystagmus?   Nystagmus is an involuntary movement of the eyes which often seriously reduces vision. The degree and direction of eye movement, amount of visual loss and resulting impairment varies greatly from person to person. Few people with Nystagmus can drive and most encounter some difficulties in everyday life, education and employment.

wobbly wednesday logoNystagmus may be one of several infantile types or may be acquired later in life.  The most common types of infantile Nystagmus are Congenital Nystagmus (CN) and Latent/Manifest Latent Nystagmus (LMLN).  Many people with CN are also partially sighted; some are registered blind; few of these can drive a car, most encounter some difficulties in everyday life – both practical and social – and some lose out on education and employment opportunities.  However, CN or LMLN by themselves do not necessarily reduce acuity substantially and many people with these disorders lead normal, active lives.  Those with poor vision usually have associated sensory deficits responsible for the greater part of their vision loss.

Though I do not have Nystagmus myself, both of my brothers do and like them, my son was diagnosed when he was just an infant.  They have been fortunate however, in that it has not significantly hindered them in their lives.  My brothers can both drive and have successful careers now as adults.  

Nystagmus Awareness Day

I can not speak of their personal experience growing up – though I know that they each handled it differently due in part to different degrees of visual impairment.  Both attended public school and thus encountered the usual childhood teasing. My oldest brother was always quiet and reserved.  He loves sports and like most young boys enjoyed playing baseball as a child, but his CN prohibited him from pursuing it beyond elementary school.

My youngest brother was an active boy – much like my own son. The traditional classroom was difficult for him and my mother fought with the school system regularly regarding his behavior in the classroom.  Because of his null point (a gaze angle where the CN damps or is reduced), it often seemed to the teacher that he was not paying attention.

It is partially because of my son’s CN that we chose to homeschool. I’ve shared this with family and friends we know personally but this is the first time I have written about it here.  To see the affects of CN, watch a short clip of Buddy playing a video game:


Below are some observations which apply in OUR case:

  • Glasses or contact lenses do not correct nystagmus although they may damp (reduce) CN. Presently, Buddy has relatively normal acuity but as he gets older, I’m sure he’ll require corrective lenses.
  • His vision and degree of wobbliness may vary during the day and is likely to be affected by emotional and physical factors such as stress, tiredness, nervousness or unfamiliar surroundings.
  • The angle of vision is important though his null point varies.  To reduce the eye movement (or wobbly head), he will turn his head to the right to focus on things at a distance.  Alternatively, he will sometimes turn to the left when things are close. Sitting to one side of a screen or whiteboard does not help because it reduces the angle at which the screen is viewed. Because we homeschool, he doesn’t have to worry about a seating assignment but when the occasion arises, his solution is to sit directly in front and adopt the preferred head turn.
  • He can read very small print if it is close enough but he prefers clear, large print material and selects books accordingly.

Together with the American Nystagmus Network, we are raising awareness for Nystagmus. The kids and I are baking cupcakes – all proceeds will be donated to ANN.  Please join us and many individuals from around the world to help raise funds and support for the Nystagmus community.

To make a donation, visit my Wobbly Wednesday fundraiser on CrowdRise.