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Scientists find genetic signature of Down syndrome in old bones

Jeffrey Bailey — Tue, 20 Feb 2024 16:24:47 +0000

Scientists have diagnosed Down syndrome based on DNA in the ancient bones of seven babies, one of which was as old as 5,500 years. Their method, published in the journal Nature Communications, could help researchers learn more about how prehistoric societies treated people with Down syndrome and other rare conditions.

Down syndrome, which now affects 1 in 700 babies, is caused by an extra copy of chromosome 21. The extra chromosome produces extra proteins, which can cause a wide range of changes, including heart defects and learning disabilities.

Scientists have struggled to piece together the history of the condition. Nowadays, older mothers are most likely to have a child with the condition. In the past, however, women were more likely to die young, which could have made Down syndrome rarer, and the children born with it would have been less likely to survive without the heart surgery and other treatments that extend their lives today.

Archaeologists can identify some rare conditions, such as dwarfism, from bones alone. But Down syndrome – also known as trisomy 21 – is a remarkably variable disease.

People who suffer from it can have different combinations of symptoms, and they can have severe or milder forms. For example, those with the characteristic almond-shaped eyes caused by Down syndrome may have relatively normal skeletons.

As a result, it is difficult for archaeologists to confidently diagnose ancient skeletons with Down syndrome. “You can't say, 'Oh, this change is there, so it's trisomy 21,'” says Dr. Julia Gresky, an anthropologist at the German Archaeological Institute in Berlin, who was not involved in the new research.

In contrast, Down syndrome is not difficult to identify genetically, at least in living people. In recent years, geneticists have tested their methods on DNA preserved in ancient bones.

It was a challenge, however, because the scientists cannot simply count entire chromosomes, which break up into fragments after death.

In 2020, Lara Cassidy, a geneticist then working at Trinity College Dublin, and her colleagues used ancient DNA for the first time to diagnose a baby with Down syndrome. They examined genes from skeletons buried in a 5,500-year-old tomb in western Ireland. The bones of a six-month-old boy contain unusually large amounts of DNA from chromosome 21.

Since then, Adam Rohrlach, a statistician at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and his colleagues have developed a new method to find the genetic signature, one they can use to quickly look at thousands of bones.

The idea came to Dr. Rohrlach when he spoke to a scientist at the institute about the procedures for searching for ancient DNA. Because high-quality DNA sequencing is very expensive, it turned out, the researchers were screening bones with a cheap test called shotgun sequencing before choosing a few for further study.

If the bone still retained DNA, the test revealed many small genetic fragments. Very often they came from microbes that grow in the bones after death. But some bones also contained DNA that was recognizably human, and were flagged at a high rate for additional study.

Dr. Rohrlach found that the institute had screened nearly 10,000 human bones in this way and that the results of all the shotgun sequencing had been stored in a database. It struck Dr. Rohrlach and his colleagues noted that they could scan the database for extra chromosomes.

“We thought, 'No one has ever checked for this kind of thing,'” Dr. Rohrlach said.

He and his colleagues wrote a program that sorted fragments of the recovered DNA by chromosome. The program compared the DNA from each bone to the full set of samples. Subsequently, certain bones were identified with an unusual number of sequences coming from a particular chromosome.

Two days after their first conversation, the computer had the results. “It turned out that our suspicions were correct,” says Dr. Rohrlach, who is now an associate professor at the University of Adelaide in Australia.

They discovered that the institute's collection contained six bones with extra DNA from chromosome 21 – the hallmark of Down syndrome. Three were from babies as old as a year old, and the other three were from fetuses that died before birth.

Dr. Rohrlach also followed the research of Dr. Cassidy from 2020 op. He used his program to analyze the shotgun sequencing for the Irish skeleton and discovered that it also carried an extra chromosome 21, confirming her initial diagnosis.

Furthermore, Dr. Rohrlach another skeleton with an extra copy of chromosome 18. That mutation causes a condition called Edwards syndrome, which usually leads to death before birth. The bones came from an unborn fetus that had died at 40 weeks and was severely deformed.

The new research shows Dr. Rohrlach and his colleagues did not determine how common Down syndrome occurred in the past. Many children with the condition likely died before adulthood, and children's fragile bones are less likely to be preserved.

“There's so much uncertainty in the sampling and in what we could and couldn't find,” said Dr. Rohrlach. “I think it would be a very brave statistician to try to make too much sense of these numbers.”

But Dr. Rohrlach found it significant that three children with Down syndrome and those with Edward syndrome were all buried between 2,800 and 2,400 years ago in two neighboring towns in northern Spain.

Normally in that culture people were cremated after death, but these children were buried in buildings, sometimes with jewelry. “They were special babies who were buried in these houses, for reasons we don't yet understand,” Dr. speculated. Rohrlach.

Dr. Gresky didn't think the evidence allowed ruling out chance for the cluster of cases.

“Maybe the bones would have been so well preserved there,” she said. “Maybe the archaeologists were so good and well trained that they took them all out. Perhaps they were buried in such a way that it became much easier to find them.”

Still, Dr. Gresky sees the new study as an important step forward. First, it may allow archaeologists to compare remains genetically identified with Down syndrome and discover some hidden features common to all their skeletons.

And dr. Gresky hoped other researchers would use ancient DNA to illuminate the hidden history of other rare diseases: “You just have to look for it, and you have to talk about it. Otherwise they remain invisible.”

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Our daughter died at 15 months from a rare genetic disorder. We decided to compress her ashes into separator stones so that we can still hold her

Sabir Ansary — Fri, 19 Jan 2024 17:00:10 +0000

A young couple have had their daughter's ashes solidified into parting stones after losing her to a rare genetic condition in April last year.

Kaylee and Jake Massey, from Idaho, had their lives turned upside down when their daughter Poppy was diagnosed with Tubulin Folding Cofactor (TBCD), a serious genetic neurological disorder, at just nine months old.

The parents didn't know Poppy had a rare disease until they were four months old, when they noticed her vision wasn't forming properly.

They went back and forth with doctors for months until they received a conclusive diagnosis.

“After doing the most advanced genetic testing on the market, we got the most horrifying news: we discovered she had a genetic condition that I believe made her the 38th child in the world to be diagnosed at the time,” Kaylee shared . People.

Six months later, Poppy tragically died in intensive care. To remember Poppy, the Massey's challenged the norm and transformed her remains into dividing stones.

Jake and Kaylee (both pictured above) decided to compress their daughter's ashes into parting stones

When Poppy was born, the parents had no idea that their little girl had been born with one of the rarest genetic abnormalities.

It wasn't until she was four months old that Kaylee and Jake, who have two children together, Rosie, eight, and Peter, six, noticed Poppy was having problems with her eyesight.

The parents took her to hospital, where an MRI scan showed that the center of Poppy's brain had barely formed.

She was diagnosed with several conditions before medical professionals turned to TCBD – a condition caused by a genetic mutation on both alleles of the TCBD gene.

The parents remained convinced that Poppy would stay with them for a few more years. In an explanation TikTok about Poppy's condition, Kaylee explained, “The average lifespan for children with this condition is about three to five years.”

However, after being diagnosed, Poppy seemed to suffer from breathing difficulties.

She tested positive for a respiratory infection and doctors also found pneumonia in her lungs.

The parents remained optimistic, but when Poppy was admitted to the ICU due to the infection, her heart stopped.

Poppy (pictured with Kaylee) was diagnosed with TBCD, a rare genetic condition, at nine months

Poppy's parents didn't know she had a rare genetic condition for the first few months of her life

The family had five hours to say goodbye to Poppy before she tragically passed away.

Jake and Kaylee decided to remember Poppy in an unconventional way.

The family wanted to keep Poppy close, but Jake and Kaylee were afraid their children would break the urn or be afraid of its presence.

What is TBCD?

TBCD is a serious genetic neurological disorder
It is extremely rare with less than 50 identified patients in the world
The life expectancy of patients is not more than five years
There is no treatment or cure
Symptoms include seizures, swallowing difficulties, hypotonia, and missed developmental milestones

Source – TBCD Foundation

They decided to pass on stones to prioritize Rosie and Peter and what they would feel most comfortable with.

However, when they received the box, the care that went into Poppy's stones exceeded the family's expectations.

“It felt so personal, and I remember opening that card and feeling like these people cared about my daughter,” Kaylee said.

Kaylee has since gotten to work TikTok to share insight into the family's grieving process and special memories of Poppy.

Kaylee and Jake took to the stage to explain their decision to choose parting stones.

“I want to start by saying, when you sit down at a funeral home and they present the options to you, either option is bad,” Kaylee said.

“We chose to cremate her and a step further we chose a company called Parting Stones to have her ashes turned into stones, and the reason for that was because… it was the least worst option,” Jake said.

“It seemed very tangible and tactile, and because we had two other children in the house, we never wanted to have anything that was afraid of breaking,” he continued.

“It feels like we retain the ability to kind of hold her and keep her with us, and if we want to spread her ashes somewhere later in life, we can still do that.”

Social media users took to the comments section to share their thoughts and offer support to the family

The parents then continued to remove Poppy's stones, which were all different sizes with yellow dots.

“I think they're beautiful,” Jake concluded.

Viewers took to the comments section to share their thoughts on Kaylee and Jake's decision.

One said: 'What a wonderful way to keep earthly space free for Poppy.'

A second added: 'What an emotional experience to 'hold' Poppy in a new form. The stones are beautiful. I always think of you.'

A third wrote: 'Whichever option you choose, it's the right one because it was right for YOU. Sorry for your loss.'

A fourth added: 'Like a worry stone. Carry with you and rub when you seek comfort. Many worry stones even contain angels. Yours truly contains an angel.”

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VA recruits millionth veteran for its genetic research database

Sabir Ansary — Wed, 15 Nov 2023 15:47:35 +0000

A moment that sums it up: 3:46 p.m

On the afternoon of November 11, the millionth veterinarian was added to the database. Employees who had waited twelve years for this moment cried.

As the goal approached, the department had launched an intensive email campaign, encouraging veterinarians to sign up online or at VA medical centers. In the few weeks leading up to the millionth vet, the few hundred registrants per day turned into thousands. The department created a ticker, which it posted online, showing the numbers.

“This is a gift to the world,” said Denis McDonough, Secretary of Veterans Affairs.

The VA will continue to enroll more veterinarians in the database, but this was a symbolic moment.

Why it matters: A diverse database provides disease insights.

Researchers have been building large databases for genetic research for years. For example, they used this to find genes that appear to confer resistance to dementia and genes that most likely contribute to obesity. The discoveries provide opportunities to understand these diseases and develop treatments.

There are other large genetic databases, but they are largely built in Europe and include few minorities. The VA says its database offers a more diverse population: 175,000 people of African descent and 80,000 Hispanics joined the Million Veteran Program. The database also contains 100,000 women.

“It’s a huge investment and a scientific opportunity,” says Dr. Amit V. Khera, a genetics researcher at Massachusetts General Hospital. He is not a VA researcher, but he has used the data through collaborations with researchers affiliated with the department.

When the database started receiving participants, approximately 600 VA researchers registered to use it. The result so far is more than 350 articles on diseases and conditions, including post-traumatic stress disorder, heart disease, hypertension and non-alcoholic liver disease.

This is how researchers discovered Dr. Sumitra Muralidhar, director of the Million Veteran Program genes associated with having flashbacks of traumatic events, a hallmark of post-traumatic stress. Now, said Dr. Muralidhar, researchers can study those genes and the roles they play, which could help develop treatments for PTSD.

The department also says it takes the privacy of patients into account. Although researchers can examine genetic and other data and links to medical records, fewer than 10 people at the VA have the links that link data to individuals. That data, said Dr. Muralidhar, are kept in a “high security” facility in Boston.

What it looks like: Veterans hope the database will help.

In 2019, a nurse at a VA hospital told Octavia Harris, 60, of San Antonio, about the Million Veteran Program. She signed up and said participating was an opportunity to help other vets and herself.

Ms. Harris, who retired in 2012 after 30 years of service in the Navy, said three conditions run in her family: diabetes, high blood pressure and arthritis. She hopes that with her genetic and health information added to that of so many others, researchers will make useful discoveries.

In her family, Ms. Harris said, people died young.

“We didn’t live to be over seventy,” she says. “I want to get past seventy.”

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I was abandoned by my mother because of my rare genetic condition – then my baby got brain damaged

Sabir Ansary — Tue, 06 Jun 2023 22:05:12 +0000

A woman who was abandoned by her mother as a baby due to her rare genetic condition has revealed how, in a tragic twist of fate, her son suffered brain damage when he was just 18 months old.

Kaddy Thomas, from Clevedon, North Somerset, who has devoted her life to caring for her son Elijah, appeared on This Morning today to discuss Carers Week in the UK – which started yesterday.

The full-time caregiver was born in 1968 with a rare condition called Apert syndrome. In the first few days of Kaddy’s life, doctors warned her mother that she would never live a normal life.

She explained, “They wouldn’t use this word now, but [doctors told] my mother was told I was going to get serious ******.

“So I think as a 22-year-old from the Gambia it was too much for her to handle, so she left me.”

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet.

It is characterized by malformations of the skull, face, teeth and limbs and occurs in one in 65,000 to 88,000 births.

In the years that followed, Kaddy lived in numerous foster homes across the UK for children with special needs.

She explained: ‘I grew up in children’s homes with children with other learning difficulties until the age of nine, but they soon discovered that I was quite good mentally.

“So I came into the care of Birmingham Children’s Social Services and was about to be adopted, but that fell through, so I became a foster family for a few years and then I went back into care.”

Kaddy had some unstable teenage years, but she says being encouraged to care for others in her local community changed her life.

She said, “If you grew up in a home, even though you have clothes on your back, food in your stomach and a roof over your head, you don’t get the love and security you would normally get if you lived in a orphanage would have grown up. a family unit.’

In 2016, Kaddy welcomed her son Elijah, who was born with the same condition.

Kaddy Thomas, who revealed her son suffered brain damage after routine surgery when he was 18 months old, highlighted the vital work of unpaid carers

Kaddy, who has devoted her life to caring for her son Elijah (pictured), discussed why she wants carers to feel supported as part of Carers Week

But when he was 18 months old, he tragically suffered brain damage during a routine surgery where surgeons discovered he had an undiagnosed infection – meaning he now needs constant care.

Kaddy explained how her “life turned upside down,” saying, “He went from a young boy who was crawling, eating and going to the nursery, dancing to music to a kid who then became motionless, I didn’t recognize him.”

Kaddy has since said that day ‘no two days are the same’ and her life and his are forever changed.

She said, “You can plan to go to the zoo or the park, and then all of a sudden he can have an epileptic fit that completely changes the dynamic of how our day is going to go.”

“And depending on what happens with that attack, it depends on whether we go to the hospital or not.

“He is at Bristol Children’s Hospital today and Sunday evening and today he had several seizures that required emergency medication. But you know he’s strong, determined, and resilient, kind of like me, actually.

Her son Elijah was also born with the condition in 2016, but things got more difficult when he suffered brain damage after routine surgery at 18 months, meaning he now needs round-the-clock care

At the age of one, she was abandoned by her mother because she was born with Apert syndrome

What is Apert Syndrome?

Apert syndrome is a genetic disorder caused by a mutation (change) on a specific gene.

The gene mutation can be passed from parent to child, but in many cases it develops sporadically.

As we age, the sutures gradually fuse (stick) together, usually after all head growth has ended.

When a child has craniosynostosis, the sutures fuse before birth. It can affect one suture or several.

Because children with Apert syndrome have a characteristic appearance, no specific diagnostic tests are needed.

Depending on the severity of the skull fusion, treatment may be needed soon after birth if pressure in the head is elevated, breathing problems are severe, or there is a risk of eye damage.

Source GGZ

Kaddy now supports other carers to give them the support and confidence they need to keep going.

She wants to highlight the work that the UK’s 5.7 million unpaid carers do.

Carers Week is an annual campaign to raise awareness of care, highlight the challenges faced by unpaid carers and recognize the contribution they make to families and communities across the UK.

It also helps people who don’t think they have caring responsibilities identify as carers and access much-needed support.

A carer is someone who cares for a family member or friend who has a disability, mental or physical illness, addiction or who needs extra help as they get older.

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A new genetic test targets young hearts

Albert Elence — Tue, 30 May 2023 07:06:34 +0000

Despite the high expectations of the new tests, there are many questions.

Some critics say a focus on treating younger people is misplaced because they may not live up to taking a statin or another drug for the rest of their lives. It can be difficult for young people to focus on potential threats to their health in the future, and some of Dr. Rader even put off undergoing polygenic risk tests after recommending them.

The real need, these critics say, is with the huge group of elderly people who need cholesterol-lowering treatment but don’t get it, or who are waiving their prescriptions. In one study, about 40 percent of people age 65 and older who have had a heart attack and need lipid-lowering drugs for the rest of their lives stop taking statins within two years.

Others, such as Dr. Rita F. Redberg, a cardiologist at the University of California, San Francisco, the editor at JAMA Internal Medicine and a critic of statin overuse, is concerned that polygenic risk scores could introduce new problems.

“There are a lot of downsides to labeling people with a disease,” she said.

The label, she added, “inexorably leads to testing and the search for treatments.” And, she said, “because the person who has now become a ‘patient’ is asymptomatic, more tests and possible treatments won’t make the person feel better in most cases.”

People may think of themselves as healthy to come to think of themselves as having a disease. “Now, when they experience life’s common aches, pains, and stabs, they wonder if it’s because they have this ‘disease,'” said Dr. Redberg. “And they can then go to the doctor or even the emergency room for things they wouldn’t have before. And that will also lead to more testing and procedures, with the associated risk of harm.”

Others, while excited about the prospects for polygenic risk scores, say doctors need to know more about how effective early intervention might be.

Dr. Iftikhar Kullo of the Mayo Clinic in Rochester, Minn., asked, “Do you actually improve long-term outcomes” by using the tests and acting on them?

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