(PDF) Evaluation of Abnormal Bleeding in Children

Assessing Gene Therapy Approaches For Down Syndrome

Decades ago, researchers showed that Down syndrome (also known as trisomy 21), was caused when individuals carried an extra copy of chromosome 21. Down syndrome is also the most common genetic cause of cognitive dysfunction. But little research has explored how gene editing tools could potentially be used to treat this condition. A new study reported in PNAS Nexus sought to do that, even though the applications of gene therapy in humans are still quite limited.

In this proof-of-principle study, the researchers aimed to cut or cleave the extra copy of chromosome 21 with CRISPR-Cas9 gene editing tools. They did so in cell lines such as skin fibroblasts and pluripotent stem cells.

One challenge with this approach is that the researchers could not simply eliminate one of the copies of chromosome 21; they had to take one away such that one from each parent remained in the cells.

The study showed that this was possible, and that duplicated chromosomes could be removed from both types of cells. This method was more efficient and more of the duplicated chromosomes were removed when the researchers also suppressed a cellular pathway that repairs chromosomal DNA damage.

Gene expression was shown to be normal after the removal of the duplicate chromosome, and the cells appeared to function normally as well.

This is still a long way from clinical application, and CRISPR-Cas9 is still not used in human patients in many situations. It is still illegal and considered unethical to apply this technology to human embryos that will continue through advanced stages of development. There are also still challenges to overcome as well, since this method can affect other chromosomes that are left in the cell. It is not that unusual for CRISPR-Cas9 to lead to unintended or off-target effects.

Although there is a wide range in how Down syndrome may present in different patients, it can sometimes be a devastating disease. There are no treatments for the condition. This work has shown that it may one day be possible to treat it by using gene editing in certain cell types such as neurons, or prevent Down syndrome from happening by applying a gene therapy technique at the right time during development.

Source: PNAS Nexus

Pathfinder To Celebrate Down Syndrome During March

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Pathfinder Village will hold a series of in-person and virtual events leading up to World Down Syndrome Day on Friday, March 21.

According to a Pathfinder news release, the activities "are focused on neighborly engagement and connecting globally in celebration of the talents and contributions of people with Down syndrome."

March 21 – "3-21" – is observed as World Down Syndrome Day because the numerical date represents the triplication of the 21st chromosome in the human genotype, the genetic cause of 95% of occurrences of Down syndrome. WDSD has been observed since 2006 and first received recognition by the United Nations in 2012. March is also Developmental Disabilities Awareness Month, highlighting how people with and without disabilities may come together to form strong, diverse communities, according to the release.

"We invite our friends and neighbors to participate in our March activities to show their support for those with Down syndrome," Pathfinder Community Engagement Coordinator Rachael Conklin said. "Many of us have enjoyed friendships and meaningful moments with individuals with intellectual and developmental disabilities who color our lives in lasting ways. This is a fun way to show support, boost spirits, and connect with our communities."

The events include:

March 1-21, "Color Our Community" and bell ringing: Pathfinder Village supporters and families evare encouraged to decorate their homes, businesses and community spaces in blue-and-yellow banners, lights, wreaths and signs. "Blue and yellow have long served as the colors of Trisomy 21 awareness," the release stated. Teams from Pathfinder will also ring the All-Faiths Community Chapel Bell 21 times daily at 3:21 p.M.

Sat., March 1, 10 a.M. To 1 p.M., Winter Farmers' Market: More than 20 regional vendors and craftspeople will sell fresh produce and more at the Pathfinder gym. Contact Rachael Conklin at 607-965-8377 ext. 147 or rconklin@pathfindervillage.Org for more information.

Pathfinder Village Foundation will kick off its $21 Challenge as a WDSD fundraiser through its online donations page. This year's goal is for 321 donations of $21 and peer-to-peer sharing to highlight Down syndrome awareness. In addition, Pathfinder Village individuals will issue their annual 21 Day Challenge, a series of fun, low-cost activities to complete with friends and family. Details are at Pathfinder's social media pages.

Crazy Socks Campaign: Pathfinder Village will work with the staff of NYCM Insurance in Edmeston to promote wearing colorful socks as part of the March 21 WDSD Rock Your Socks celebration. "Bright, colorful socks have become a 3-21 tradition, as the Trisomy 21 genotype resembles brightly colored pairs of socks," the release stated.

March 17-21, Leadership Week: Students from Otsego Academy, Pathfinder's two-year post-secondary program, and their peers from Colgate University's Center for Outreach, Volunteerism and Education (COVE) will collaborate on service projects and learning activities as part of Leadership Week. Together, the students will decorate local town gazebos as part of the celebration.

Wed., March 19, 5:30 p.M., Community Painting with Colorful Creations by Colette: A community art class at Pathfinder with Teaching Artist Colette Dunham. The $30 fee covers all course materials ($15 for children under 12 years old). Register through Pathfinder's Facebook event page or contact Rachael Conklin. Seating is limited.

Thursday, March 20, Pathfinder Produce Anniversary Market: Pathfinder Produce, the village's fresh fruit and vegetable market, will offer special WDSD promotions as part of its 12th anniversary market; open 11 a.M. To 5 p.M. At the Commons building.

Friday, March 21, World Down Syndrome Day Activities: Pathfinder will mark WDSD with "loud, inventive, and crazy socks" in conjunction with NYCM Insurance, part of the global Rock Your Socks observance, the release stated. Community members may submit "Color Our Community" or "Rock Your Socks" photos through social media to be part of the celebration and show support for those with Down syndrome.

Pathfinder Village was founded in 1980 to provide people with Down syndrome and other disabilities an independent and fulfilling lifestyle, the release stated. It also offers educational, day services, vocational/pre-vocational and outreach programs. To learn more, visit https://pathfindervillage.Org.

Minister Sorry For Making 'Mongol Syndrome' Remark

By Lin Ching-hua, Wu Po-hsuan and Esme Yeh / Staff reporters, with staff writer

Minister of Economic Affairs J.W. Kuo (郭智輝) yesterday apologized for comparing the potential Taiwan Semiconductor Manufacturing Co (TSMC)-Intel joint venture to marrying someone "from a family with inherited 'Mongol syndrome.'"

"You're going to marry a woman, but you know that Mongol syndrome runs in her family. Will you marry her?" Kuo said of TSMC and Intel's joint venture during a radio broadcast interview on Friday.

"That takes great determination. Not that Mongol syndrome is a bad thing, but it'll pose a long-term risk to your descendants and cause them distress," he said.

Kuo's remarks provoked an outcry from disability groups.

The term "Mongol syndrome" (along with related terms like "Mongolism" or "Mongolian idiocy") was discontinued by the WHO in 1965 because it was deemed scientifically inaccurate, racially misleading and offensive, particularly following a formal request from the Mongolian government.

The WHO officially replaced it with "Down syndrome" named after John Langdon Down, a British physician who was the first to accurately describe the distinctive features of the condition in the 1860s.

Sun Yi-hsin (孫一信), deputy secretary-general of the Parents' Association for Persons with Intellectual Disability, said that Kuo's remarks were "profoundly discriminatory."

Comparing a risky joint venture to marriages involving families with inherited Down syndrome "seriously undermines the marital rights of people with Down syndrome, as well as their siblings and relatives," he said, citing the Convention on the Rights of Persons with Disabilities.

The French physician Jerome Lejeune in 1959 discovered that Down syndrome is caused by a chromosomal abnormality, but the root causes remain to be understood, so no family can be excluded from the possibility of having a child with Down syndrome, Sun said.

"We know that each child in the world is unique, and we never give up on any opportunity for our children to thrive," he said.

Down Syndrome Foundation chairman Lin Cheng-hsia (林正俠) wrote on Facebook that it is heart-wrenching to know that children with Down syndrome are being referred to as having "Mongol syndrome," especially so close to World Down Syndrome Day on March 21.

"While society is becoming more inclusive and accepting of people with Down syndrome, the head of the Ministry of Economic Affairs compared marrying someone from a family with Down syndrome to a risky joint venture. This is outrageous and we strongly express our protest," he said.

Kuo in a statement yesterday apologized for his remarks.

"My understanding of Down syndrome was outdated, but my remarks are wrong whether I made it in the past or the present," he said.

"For the distress caused to people with Down syndrome, people who are offended and the companies due to my inappropriate, incorrect analogy, I sincerely apologize," Kuo said, adding that he would reflect upon himself and be more careful with his words.

Additional reporting by CNA

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