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Trisomy 21 Causes Down Syndrome
One could argue that the presence of extra copies of chromosome 21 in DS patients is only a correlation between an abnormality and the disease. However, scientists have developed trisomic mouse models that display symptoms of human DS, providing strong evidence that extra copies of chromosome 21 are, indeed, responsible for DS. It is possible to construct mouse models of DS because mouse chromosomes contain several regions that are syntenic with regions on human chromosome 21. (Syntenic regions are chromosomal regions in two different species that contain the same linear order of genes.) With mapping of the human and mouse genomes now complete, researchers can identify syntenic regions in mouse and human chromosomes with great precision.
As shown in Figure 4, regions on the arms of mouse chromosomes 10 (MMU10), 16 (MMU16), and 17 (MMU17) are syntenic with regions on the long q arm of human chromosome 21. Using some genetic tricks, scientists have induced translocations involving these mouse chromosomes, producing mice that are trisomic for regions suspected to play a role in DS. (Note that these are not perfect models, because the trisomic regions contain many mouse genes in addition to those that are syntenic to human chromosome 21 genes.) These experiments have shown that genes from MMU16 are probably most important in DS, because mice carrying translocations from MMU16 display symptoms more like human DS than mice carrying translocations of MMU10 or MMU17.
Additional experiments have tried to identify particularly important genes within this region by transferring smaller segments of the interval on MMU16. For example, the three mouse models depicted on the right in Figure 4 carry different portions of MMU16, and all display some symptoms of DS. Of the three, the most faithful model of DS is the Ts65Dn mouse, which carries 132 genes that are syntenic with human chromosome 21. This particular mouse demonstrates many of the symptoms of human DS, including altered facial characteristics, memory and learning problems, and age-related changes in the forebrain.
These results are both daunting and promising. On one hand, they suggest that there will be no magic bullet for treating DS, because large numbers of genes are most likely involved in the condition. On the other hand, the results suggest that mouse models will be useful in developing treatments for the many DS patients around the world.
Figure 4: Regions of synteny between human chromosome 21 (HSA21) and mouse chromosomes (MMUs) 16, 17, and 10.
There are three partial trisomy mouse models of human trisomy 21, all trisomic for a portion of MMU 16. The gene content of these partial trisomies is shown on the right.
Family Of Child With Down Syndrome Went From Shock To Gratitude: 'Lost The Air In My Chest'
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Having trouble? Click here."I literally felt like I'd lost the air in my chest. I couldn't speak."
That was the immediate reaction of a Florida dad and entrepreneur when he learned during an urgent phone call from his wife — who was pregnant with their fourth child and had just finished talking with a doctor — that their new baby might be born with Down syndrome.
"I was sad. I was angry. I was frustrated," said Aric Berquist, who shared his thoughts in a video (see the video at the top of this article) and in an interview with Fox News Digital.
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Berquist said that on the phone call, he "wanted to stay calm" for the sake of his wife, Gretchen, "who was teary" as the couple talked over the news.
After they hung up, as he struggled with his emotions, he said, "I just felt this, heard this voice say, 'Who are you to tell me what a blessing is?'"
Aric Berquist's son, Asher, is shown at age 9 tossing a football with his dad at home. Said Berquist about the day his son was born, "I really do feel that on that day, treasure was put in my hands." (Aric Berquist/The Lesson)
The deeply faithful Christian parent said the voice "wasn't angry. It felt strong, and it felt safe — and it was so shocking that all of my arm hairs were raised to the point that it hurt."
And he found himself "just bursting into tears."
A subsequent ultrasound confirmed the diagnosis of Down syndrome for their new baby — and the couple did all they could to prepare themselves, and their older children, for the baby's arrival.
"He continues to teach me more about life and myself than I could ever dream of articulating."
That year, the dad said, "Asher was born. And I really do feel that on that day, treasure was put in my hands."
Berquist described the joy he believes their youngest has brought the entire family — both from the time he was born and up to the present day, including at the recent wedding of their daughter, the oldest of their four children.
"That kid has literally changed my life in an amazing way," he said.
The Berquist family at the recent wedding of daughter Abby, center. Youngest child Asher is shown at right, front. (Berquist family)
The couple's youngest is 13 years old today and in sixth grade.
"And he continues to teach me more about life and myself than I could ever dream of articulating."
He "loves sports," added Berquist. "He'll play flag football and he's done soccer. He loves to play sports with his two older brothers, Andrew and Adam."
"He is available to everyone he engages with."
He said his son Asher's bond with brother Adam — the sibling closest to him in age — "is one of the richest and most beautiful things I've ever seen."
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Their youngest "occupies the current moment like nobody I have ever met," Berquist also said. "He is present. And he is available to everyone he engages with."
He makes others feel "acknowledged. And I'm starting to think that we, as the 'typical people,' have the disabilities — not him."
"It's been really wonderful to see how he's developed — just his growth within each phase," said Aric Berquist of his youngest child. (Aric Berquist/The Lesson)
Today, Berquist also told Fox News Digital, "he's doing so well. It's been really wonderful to see how he's developed — just his growth within each phase. But more than that, it's been really touching as a parent to see how he's connected with so many people in his life. It's been beautiful to watch."
Changes in developmentHeart problems are a concern for children with Down syndrome — and young Asher had bypass surgery within the first three months of his life, his family said. After a week in the hospital, he returned home to his parents and siblings.
Down syndrome is a condition in which a baby is born with an extra chromosome.
Chromosomes determine how the body forms and functions. Those born with an extra one experience changes in the way the body and brain develop.
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A baby is typically born with 46 chromosomes. A baby with Down syndrome has a full or partial copy of chromosome 21.
About 5,700 babies are born with Down syndrome each year in the U.S., and over 400,000 people in the country currently live with it, according to the Centers for Disease Control and Prevention (CDC).
About 5,700 babies are born in the U.S. With Down syndrome each year and over 400,000 people in the country currently live with it. The blue-and-yellow ribbon represents Down syndrome awareness. (iStock)
The life expectancy of those with the condition has increased dramatically over the years.
In 1983, it was just 25 years old — but today it's 60 years old, per the Global Down Syndrome Foundation, a nonprofit based in Denver, Colorado.
The most common type of Down syndrome is trisomy 21, which accounts for 95% of all cases. Less common types of Down syndrome are translocation (caused by rearranged chromosome material) and mosaicism (when there is a mixture of two types of cells).
Not every child with Down syndrome will display the developmental symptoms.
There are no known ways to prevent the condition during pregnancy and no known root causes, experts say.
One risk factor associated with Down syndrome is the age of the mother. For a 25-year-old pregnant woman, the odds are about 1 in 1,250. At age 40, those odds are 1 in 100, statistics show.
Dad Aric Berquist, shown on a walk on the beach, said he cherishes the "blessings" brought to his whole family by his youngest son. (Aric Berquist/The Lesson)
There are both physical and developmental symptoms of Down syndrome.
Physical symptoms may include a flattened face; shorter height; short neck; small ears, hands and feet; and decreased muscle tone, according to the CDC.
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Developmental symptoms, meanwhile, may include a short attention span, impulsive behavior, slow learning and delayed speech development.
Not every child with Down syndrome will display each of these traits.
'Walk through that day'A key life lesson for Berquist through his experiences has been about being present.
Know that "your feet are on the ground today," he said.
"Walk through that day."
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When there are life challenges, he said, "when we walk through things that are tough, we're being cleaned. We're being made into something beautiful if we allow it and if we walk through it."
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Berquist also said, "Breathe that air. Engage with that beauty. Because that is your life."
Angelica Stabile and Ashlyn Messier, both of Fox News Digital, contributed reporting.
'There Is No Word For Down's Syndrome In My Language'
Elly Kitaly takes her son Chadron swimming in place of the physiotherapy he needs for his Down's syndrome
When Elly Kitaly gave birth to her son she found out he had Down's syndrome. She realised that the condition was so ignored in her country, Tanzania, that there was not even an adequate word in her language, Swahili.
This is Elly's account of her journey to find out why.
Waiting for an internal flight at Dar es Salaam's airport, a young accountant started making conversation with me.
"Why are you flying to Arusha?" he asked.
I told him I was going to meet a friend I had made on Instagram. She is a mother, like me. Her son is four, like mine, and just like my son Chadron, he has Down's syndrome.
"What's Down's syndrome?" he asked.
This is a question I get often in Tanzania. It doesn't matter how educated you are, no-one seems to know what it is.
I geared myself up to give my well-practised explanation.
I wanted to switch into our language, Swahili, but I knew I had to keep to English because there isn't a good-enough word for Down's syndrome in Swahili.
From dwarf to zombie: the problematic terms used in Swahili to describe Down's syndrome
Mlimbuko dalili dumazi - this term is used in the Swahili dictionary for disabled people but I never hear anyone use it in real life. Doctors aren't even aware of it. "Dumazi" translates as dwarf and I have a suspicion that is because that is a translation of the word down - as in down low or short. This is a mistranslation because, while one of the symptoms can be stunted growth, Down's syndrome actually gets its name from the doctor who first observed all its characteristics together - John Langdon Down.
Taahira - this is the term I hear used most often. Its English equivalent is retard. Just like retard it is a highly offensive insult. But unlike in English, it hasn't been replaced by a term like "learning disability". Other insults with a similar meaning are "mazazeta" and "zuzu".
Mtindio wa ubongo - this is the most socially acceptable term and you'll hear officials use it, but it isn't accurate as it means cerebral palsy.
Ndondocha - this slang loosely means zombie, as in someone who has been possessed. It refers to the belief that witch doctors can cast spells to make people mentally disabled. It can also be used to mean someone who has been cursed by their ancestors.
My language is a reflection of my country - it can sometime feel like Down's syndrome (DS) doesn't exist in Tanzania.
Take my fellow passenger at the airport.
I explained to him that there are some common physical signs of DS, like slanted eyes and a flat nose.
He looked blank. So I showed him pictures and he said he hadn't seen people like this before.
We boarded our flight and the conversation came to an end but it got me thinking.
Looking back, I realised that growing up, I'd never seen a person with DS either. Not at school, not in the market, and not at church.
I was barely aware of the condition until I gave birth to my own son.
I remember frantically Googling it in my hospital bed.
Find out more
Listen to Don't Hide My Son, on The Documentary, on the BBC World Service, on 4 June
I learnt that the most common form of Down's syndrome is trisomy 21, trisomy meaning third chromosome. You can think of chromosomes as the instruction manuals for how to build your body. It's typical to have 23 instruction manuals, each in duplicate, but people with trisomy 21 have an extra, third, copy of manual 21.
Crucially, I learnt that this extra chromosome comes about as a result of random events during the development of the embryo, egg or sperm cells.
If it's random, it can occur just as much in Tanzania as any other country.
Given that, why hadn't I, or my new accountant friend, seen anyone with DS in public?
With this question in mind, I arrived in Arusha and met my Instagram friend, Magreth Paschal, for the first time in real life.
Magreth, right, showed me the devestating text message she received about her son Jotham, left
As we sat at her home admiring her plants from her floristry business, she told me the first she had heard of the condition was when her son was diagnosed.
Like me, she hadn't seen people with DS at all when she was growing up.
She suspected that this was because parents had been shamed into hiding their children.
The reason she held this suspicion was because of something that happened to her when her son Jotham was a baby.
A customer of hers had made a shocking accusation in a text message.
She'd kept the message and read it out loud to me: "Shame on you for going to the witch doctor and sacrificing your son just so that you can get rich."
I had heard of this idea before because I had been told that people had said similar things about me.
It's a complicated belief to get your head around.
Some people in Tanzania think that people have DS because their parents have gone to the witch doctor to cast a spell to make themselves rich and have given their own child's mental capabilities as a sacrifice.
More on Tanzania and witchcraft:
Magreth was incredibly sad that someone would make such an accusation about her.
"After I received the text, I couldn't even continue to feed the baby. I just cried and cried. It was the worst experience of my life."
When she went out to the park with her son she started noticing people staring at her.
"Back then I was not comfortable to go out in public with my son because some people looked at me as if I'm a sinful person," she told me.
She felt people judging her most when she was driving with Jotham in the car - in a town where many people couldn't ever dream of owning a car in their lifetime.
"That's when you give them the answer that you have used your son for the money ritual."
It's impossible to say how many people with DS are hidden behind closed doors
Sitting across from Magreth, I was filled with anger. I found myself shouting: "I want the world to know that we did not go to the witchdoctor.
"That isn't how we ended up with children with Down's syndrome."
While the accusations made against parents are outrageous, if those parents do give in to the shame and hide their children, the consequences are heartbreaking.
By locking their children away, these parents are denying them the opportunity to socialise and learn.
What is Down's syndrome?
The condition can lead to smaller stature and a learning disability. But our children with DS do learn, it just takes a bit longer.
Magreth and I have a shared love for videos on social media that prove this.
Frank Stephens told me the secret behind his success in public speaking was being included in everything by his parents
I had never seen someone with DS speak as eloquently as him before. I got in touch with Frank to ask him what circumstances had led him to be such an accomplished public speaker.
He was clear - it was a result of his parents involving him in everything when he was growing up.
Locking up children isn't just restricting their opportunities. It can actually create more disabilities.
One physiotherapist, Godfrey Kimathy, told me when he was working in Magreth's region he found a seven-year-old girl who couldn't walk or talk or go to the toilet, not because she had DS but because she had been locked up her whole life.
Her parents had locked their daughter up because their neighbours believed they had made her that way in order to become rich.
But Godfrey said he couldn't even see the wealth that the neighbours were talking about.
Magreth went down a different route - she became defiant against this stigma.
She now takes Jotham everywhere and by doing so she hopes to change her world.
And I want to change my world too by proposing the introduction of a new Swahili term - "Traisomi ishirini na moja" it's a direct translation of trisomy 21 - that extra chromosome.
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