Down syndrome continues to be the most common genetic disorder and the least funded. There is so much to learn about the connections to the 21st chromosome and research is so important.
It's important not just to the individuals with Down syndrome and their families - but it is important in the general population as well. There is a huge connection with Down syndrome and Alzheimer and potential cures for Alzheimer can help the general population. There is also interest in researching in why people with Down syndrome are less likely to get certain cancers - like breast cancer - or more likely to be diagnosed with leukemia, but have a higher rate of survival.
Frank Stephens, a self-advocate, testified on Capital Hill regarding the importance of funding for Down syndrome research. It's important for his voice to be heard.
As he states, people with Down syndrome are "...a medical gift to society, a blueprint for research into Alzheimer, cancer, and immune system disorders."
You can also watch the testimony of Michelle Sie Whitten, Co-Founder, President, and CEO of the Global Down Syndrome Foundation.
What can you do as families? Have you registered with DS-Connect: The Down Syndrome Registry? You can connect with researchers and health providers and possibly participate in certain clinical studies.
Showing posts with label Down syndrome registry. Show all posts
Showing posts with label Down syndrome registry. Show all posts
Wednesday, October 25, 2017
Sunday, October 23, 2016
DS Connect: The Down Syndrome Registry
If you are the parent of a person with Down syndrome, or are an adult with Down syndrome, have you heard of, and have you registered with, DS Connect: The Down Syndrome Registry?
I've blogged about this registry before, but just in case there are new parents out there who have stumbled on my blog I wanted to mention it again.
The registry is maintained by the National Institutes of Health and has many consortium members to include (in no particular order) the NDSS, NDSC, SO, GDSF, DSAIA, DSI, IMDSA, LuMind RDS, and JLF.
The registry is where individuals and professionals can set up private accounts and be connected for research studies. You control the information you put in the registry via a secure and password protected account.
Researchers can access de-identified aggregate data to identify target populations for study or trial planning/recruitment.
The goal is to have 10,000 families registered and they are still well short of that goal, but are making some progress (almost 3500 registered families).
Here is the FAQ page to answer many more questions.
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I've blogged about this registry before, but just in case there are new parents out there who have stumbled on my blog I wanted to mention it again.
The registry is maintained by the National Institutes of Health and has many consortium members to include (in no particular order) the NDSS, NDSC, SO, GDSF, DSAIA, DSI, IMDSA, LuMind RDS, and JLF.
The registry is where individuals and professionals can set up private accounts and be connected for research studies. You control the information you put in the registry via a secure and password protected account.
Researchers can access de-identified aggregate data to identify target populations for study or trial planning/recruitment.
The goal is to have 10,000 families registered and they are still well short of that goal, but are making some progress (almost 3500 registered families).
Here is the FAQ page to answer many more questions.
Grab This Button
Monday, October 20, 2014
Why Research On Down Syndrome?
Years ago it was thought that individuals with Down syndrome weren't capable of, well, just about anything, so it was standard practice to immediately institutionalize babies born with Down syndrome.
I've said it before, and I'll say it again, you put any baby in an institution without stimulation, love, opportunities to grow and learn ... of course they won't learn anything!
Along with the institutionalization there was the attitude that there was no reason to do research that would help with a better quality of life.
Things have changed and thanks to research more is understood about Down syndrome. Despite the fact that Down syndrome remains the most common chromosomal disorder but the least funded by the NIH, research is being done by a number of organizations who realize the importance of research and Down syndrome.
They are discovering that by researching the genes and secrets that are held on that 21st chromosome they can also research medical mysteries beyond Down syndrome - issues like Alzheimer's and cancer.
Even as recently as 5 years ago I blogged about individuals with Down syndrome having a higher chance of being diagnosed with leukemia, but also a higher chance of beating cancer.
Does Study Of Down Syndrome Hold A Possible Cancer Cure? is a more recent article bringing light to the need for research on the 21st chromosome and the positive impact it can have on a larger part of society. "Therefore, our friends and relatives with Down syndrome are, even if unintentionally, enabling discoveries about how cancers develop and how to combat them."
Exactly. Research is important and it's why we support the work that organizations like LuMind Foundation, Research Down Syndrome, Global Down Syndrome Foundation, just to name a few, are doing. It's why it's important to raise awareness and take action on research and spread information on the Down Syndrome Registry.
I've said it before, and I'll say it again, you put any baby in an institution without stimulation, love, opportunities to grow and learn ... of course they won't learn anything!
Along with the institutionalization there was the attitude that there was no reason to do research that would help with a better quality of life.
Things have changed and thanks to research more is understood about Down syndrome. Despite the fact that Down syndrome remains the most common chromosomal disorder but the least funded by the NIH, research is being done by a number of organizations who realize the importance of research and Down syndrome.
They are discovering that by researching the genes and secrets that are held on that 21st chromosome they can also research medical mysteries beyond Down syndrome - issues like Alzheimer's and cancer.
Even as recently as 5 years ago I blogged about individuals with Down syndrome having a higher chance of being diagnosed with leukemia, but also a higher chance of beating cancer.
Does Study Of Down Syndrome Hold A Possible Cancer Cure? is a more recent article bringing light to the need for research on the 21st chromosome and the positive impact it can have on a larger part of society. "Therefore, our friends and relatives with Down syndrome are, even if unintentionally, enabling discoveries about how cancers develop and how to combat them."
Exactly. Research is important and it's why we support the work that organizations like LuMind Foundation, Research Down Syndrome, Global Down Syndrome Foundation, just to name a few, are doing. It's why it's important to raise awareness and take action on research and spread information on the Down Syndrome Registry.
Monday, October 13, 2014
DS Connect: Have You Connected?
If you are the parent or legal guardian of, or an adult person with Down syndrome, have you signed up with DS Connect yet?
What is DS Connect? It is a national registry for individuals with Down syndrome and their families funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development. The registry will connect volunteer families with researchers, clinicians and other professionals for research studies.
The need for the registry was explained in two Down syndrome consortium meetings about 4 years ago.
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
Many other medical conditions have registries, until now there hasn't been one for Down syndrome. There was a time when research on Down syndrome wasn't important; yet society has come to realize it is important. It is important to discover how and why that extra chromosome affects an individual. Up to date and accurate information can only help further research which in turn helps in understanding Down syndrome.
This is not about finding a cure for Down syndrome - that extra chromosome happens at conception - but about a registry that can help advance research discoveries, develop treatments and improve the quality of life for people living with Down syndrome.
The registry is what each family makes of it. You register with your own user name and password on the secure site and you control what and how much information you want to include. You don't have to do it all at once, you can register and log back in at a later time to input medical information.
Researchers can then access de-indentified aggregate data to identify target populations for study or trial planning/recruitment. Families can explore the data that has been entered to learn more about Down syndrome and how other families have been impacted.
I know there are many questions out there about the registry, who is maintaining it, how it will be used, who has access etc ... here is the link to the FAQ page where most of the questions are answered.
The goal is to have 10,000 individuals registered and the registry is currently at 2356.
Founders of The LuMind Foundation have put out a challenge to help spread the word about the registry and increase registration. Throughout the month of Oct for each new registrant the founders will donate $100 to LuMind. For every registrant over 125 the amount will be doubled.
Since the beginning of Oct there have already been 74 new people registered. If you're not yet registered will you take the challenge and register? No cost to register and you help increase research funding to LuMind Foundation at no cost to you.
If you are registered will you help spread the news about the registry, and the challenge?
What is DS Connect? It is a national registry for individuals with Down syndrome and their families funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development. The registry will connect volunteer families with researchers, clinicians and other professionals for research studies.
The need for the registry was explained in two Down syndrome consortium meetings about 4 years ago.
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
Many other medical conditions have registries, until now there hasn't been one for Down syndrome. There was a time when research on Down syndrome wasn't important; yet society has come to realize it is important. It is important to discover how and why that extra chromosome affects an individual. Up to date and accurate information can only help further research which in turn helps in understanding Down syndrome.
This is not about finding a cure for Down syndrome - that extra chromosome happens at conception - but about a registry that can help advance research discoveries, develop treatments and improve the quality of life for people living with Down syndrome.
The registry is what each family makes of it. You register with your own user name and password on the secure site and you control what and how much information you want to include. You don't have to do it all at once, you can register and log back in at a later time to input medical information.
Researchers can then access de-indentified aggregate data to identify target populations for study or trial planning/recruitment. Families can explore the data that has been entered to learn more about Down syndrome and how other families have been impacted.
I know there are many questions out there about the registry, who is maintaining it, how it will be used, who has access etc ... here is the link to the FAQ page where most of the questions are answered.
The goal is to have 10,000 individuals registered and the registry is currently at 2356.
Founders of The LuMind Foundation have put out a challenge to help spread the word about the registry and increase registration. Throughout the month of Oct for each new registrant the founders will donate $100 to LuMind. For every registrant over 125 the amount will be doubled.
Since the beginning of Oct there have already been 74 new people registered. If you're not yet registered will you take the challenge and register? No cost to register and you help increase research funding to LuMind Foundation at no cost to you.
If you are registered will you help spread the news about the registry, and the challenge?
Monday, April 07, 2014
Have You Registered?
If you have a family member who has Down syndrome have you heard of DS-Connect? If you've heard of it, have you registered yet?
DS-Connect is a national Down syndrome database where families can share as much, or as little, information as they want.
What is the purpose of the registry? "...will facilitate contacts and information sharing among families, patients, researchers and parent groups." It also " “...links those seeking volunteers for their research studies with those who most stand to benefit from the research.”
How can it be used? For professionals - Researchers, clinicians and other professionals can access de-identified aggregate data to identify target populations for study or trial planning or recruitment.
For families - explore the information you and others have provided to learn more about Down syndrome and its impact on other community members.
DS Achieves explains it is: "a resource for connecting researchers with families and self-advocates willing to participate in research and clinical trials. Called “DS-Connect,” the NIH Down syndrome registry will also help researchers improve our overall understanding of DS as a condition with the health histories, symptoms, and diagnosis information that families voluntarily provide.
For decades, DS researchers have lacked commonplace tools and capabilities necessary to advance their work to the next level, including a national DS registry. Without them, we can’t move from basic research to clinical trials to drug therapies or best practices that can meaningfully improve the quality of life for people with DS."
You can find out more about this registry by reading the FAQ.
DS-Connect is a national Down syndrome database where families can share as much, or as little, information as they want.
What is the purpose of the registry? "...will facilitate contacts and information sharing among families, patients, researchers and parent groups." It also " “...links those seeking volunteers for their research studies with those who most stand to benefit from the research.”
How can it be used? For professionals - Researchers, clinicians and other professionals can access de-identified aggregate data to identify target populations for study or trial planning or recruitment.
For families - explore the information you and others have provided to learn more about Down syndrome and its impact on other community members.
DS Achieves explains it is: "a resource for connecting researchers with families and self-advocates willing to participate in research and clinical trials. Called “DS-Connect,” the NIH Down syndrome registry will also help researchers improve our overall understanding of DS as a condition with the health histories, symptoms, and diagnosis information that families voluntarily provide.
For decades, DS researchers have lacked commonplace tools and capabilities necessary to advance their work to the next level, including a national DS registry. Without them, we can’t move from basic research to clinical trials to drug therapies or best practices that can meaningfully improve the quality of life for people with DS."
You can find out more about this registry by reading the FAQ.
Wednesday, October 02, 2013
Down Syndrome Registry and Biobank
Two years ago I blogged about the NIH requesting feedback on a proposed Down syndrome registry and biobank.
Last year I shared that the NIH was indeed establishing a National Down Syndrome Patient Registry.
This NIH patient registry, called DS-Connect, is now live. Families can now sign up with the registry. You can share as much, or as little, information as you want.
This registry "...will facilitate contacts and information sharing among families, patients, researchers and parent groups."
How this registry can be used:
For professionals - Researchers, clinicians and other professionals can access de-identified aggregate data to identify target populations for study or trial planning or recruitment.
For families - explore the information you and others have provided to learn more about Down syndrome and its impact on other community members.
DS Achieves put out this statement of support about the new registry, "a resource for connecting researchers with families and self-advocates willing to participate in research and clinical trials. Called “DS-Connect,” the NIH Down syndrome registry will also help researchers improve our overall understanding of DS as a condition with the health histories, symptoms, and diagnosis information that families voluntarily provide.
For decades, DS researchers have lacked commonplace tools and capabilities necessary to advance their work to the next level, including a national DS registry. Without them, we can’t move from basic research to clinical trials to drug therapies or best practices that can meaningfully improve the quality of life for people with DS."
DS Achieves created the ONE21 campaign with the vision "to fund the development of a dedicated and centralized DS biobank that will be open to all DS researchers, regardless of institutional affiliation. A biobnak will go a long way toward advancing the science of DS faster, making therapies and best practices available sooner, so our lovved ones with Ds can live healthier, happier, and more vibrant lives."
You can join the ONE21 community to stay up-to-date on the creation of a biobank.
Last year I shared that the NIH was indeed establishing a National Down Syndrome Patient Registry.
This NIH patient registry, called DS-Connect, is now live. Families can now sign up with the registry. You can share as much, or as little, information as you want.
This registry "...will facilitate contacts and information sharing among families, patients, researchers and parent groups."
How this registry can be used:
For professionals - Researchers, clinicians and other professionals can access de-identified aggregate data to identify target populations for study or trial planning or recruitment.
For families - explore the information you and others have provided to learn more about Down syndrome and its impact on other community members.
DS Achieves put out this statement of support about the new registry, "a resource for connecting researchers with families and self-advocates willing to participate in research and clinical trials. Called “DS-Connect,” the NIH Down syndrome registry will also help researchers improve our overall understanding of DS as a condition with the health histories, symptoms, and diagnosis information that families voluntarily provide.
For decades, DS researchers have lacked commonplace tools and capabilities necessary to advance their work to the next level, including a national DS registry. Without them, we can’t move from basic research to clinical trials to drug therapies or best practices that can meaningfully improve the quality of life for people with DS."
DS Achieves created the ONE21 campaign with the vision "to fund the development of a dedicated and centralized DS biobank that will be open to all DS researchers, regardless of institutional affiliation. A biobnak will go a long way toward advancing the science of DS faster, making therapies and best practices available sooner, so our lovved ones with Ds can live healthier, happier, and more vibrant lives."
You can join the ONE21 community to stay up-to-date on the creation of a biobank.
Sunday, October 28, 2012
National Down Syndrome Registry
The Global Down Syndrome Foundation just released the information that the National Institutes of Health is establishing a National Down Syndrome Patient Registry.
This is pretty exciting news as there is nothing like this for the Down syndrome community.
From the press release: The national registry will collect much needed medical information from people with Down syndrome, and connect people with Down syndrome and their families with scientists engaging in research that is of interest to those people and their families. The registry will be used to identify critical health trends, the most effective treatments and clinical trials for potential therapies.
People with Down syndrome or their families will be able to enter and update contact information and health history in an online, secure, confidential database. Participants can choose which information they would like to display, receive reminders about their own medical care and compare their medical information to that of other registrants confidentially and anonymously.
Those who give permission may be contacted by authorized clinicians and researchers to see whether they are interested in joining a research study.
From Michelle Sie Whitten, Executive Director of the GDSF, "Clearly if implemented and supported appropriately, this will be a huge game-changer regarding health outcomes for our children and adults with Down syndrome."
It doesn't say when the registry will be online, but hopefully soon!
This is pretty exciting news as there is nothing like this for the Down syndrome community.
From the press release: The national registry will collect much needed medical information from people with Down syndrome, and connect people with Down syndrome and their families with scientists engaging in research that is of interest to those people and their families. The registry will be used to identify critical health trends, the most effective treatments and clinical trials for potential therapies.
People with Down syndrome or their families will be able to enter and update contact information and health history in an online, secure, confidential database. Participants can choose which information they would like to display, receive reminders about their own medical care and compare their medical information to that of other registrants confidentially and anonymously.
Those who give permission may be contacted by authorized clinicians and researchers to see whether they are interested in joining a research study.
From Michelle Sie Whitten, Executive Director of the GDSF, "Clearly if implemented and supported appropriately, this will be a huge game-changer regarding health outcomes for our children and adults with Down syndrome."
It doesn't say when the registry will be online, but hopefully soon!
Friday, November 11, 2011
21 Act Bills
Just heard about another item to contact your state reps about! It is called the 21 Act bills and encompasses 2 bills to make up the 21 Act package.
From the NDSS: Senators Sherrod Brown (D-OH) and Susan Collins (R-ME) introduced two Down syndrome bipartisan research bills. Read their statement here.
These bills are the:
Background Information on the Bills:
The 21 Research Resource Act will expand and intensify Down syndrome programs of the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) to create an infrastructure of Down syndrome tools, including a Down syndrome contract registry, Down syndrome research database, and Down syndrome biobank. These research resources will further strengthen the research being conducted on Down syndrome across the country and better equip our research community with the tools necessary to facilitate their research. This bill also establishes a Down Syndrome Consortium with NIH to facilitate the exchange of information and make research efforts more efficient by integrating the perspectives of key stake holders. This bill requires no additional funding from the government.
The 21 Research Centers Act will create at least six Down Syndrome Translational Research Centers of Excellence that provide an optimal venue and infrastructure for translational research on Down syndrome. The bill requires NIH to publish a research plan on Down syndrome, and update the plan every five years. This bill provides $6 million in annual funding to support the Centers of Excellence.
Follow this link to take action. So easy to just click on the email template and edit for your own personal information and then send it off to your state reps asking them to cosponsor these bills.
In other news ... remember the petition to make World Down Syndrome Day an official date on the UN calendar? It has passed!
"This afternoon, in the UN Headquarters in New York, during the plenary meeting of the Third Committee, the Brazilian proposal was read and adopted by consensus, with the co-sponsorship of over 80 countries." Yay for some recognition!
From the NDSS: Senators Sherrod Brown (D-OH) and Susan Collins (R-ME) introduced two Down syndrome bipartisan research bills. Read their statement here.
These bills are the:
Trisomy 21 Research Centers of Excellence Act of 2011 (S. 1840)
Trisomy 21 Research Resource Act of 2011 (S. 1841)
Background Information on the Bills:
The 21 Research Resource Act will expand and intensify Down syndrome programs of the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) to create an infrastructure of Down syndrome tools, including a Down syndrome contract registry, Down syndrome research database, and Down syndrome biobank. These research resources will further strengthen the research being conducted on Down syndrome across the country and better equip our research community with the tools necessary to facilitate their research. This bill also establishes a Down Syndrome Consortium with NIH to facilitate the exchange of information and make research efforts more efficient by integrating the perspectives of key stake holders. This bill requires no additional funding from the government.
The 21 Research Centers Act will create at least six Down Syndrome Translational Research Centers of Excellence that provide an optimal venue and infrastructure for translational research on Down syndrome. The bill requires NIH to publish a research plan on Down syndrome, and update the plan every five years. This bill provides $6 million in annual funding to support the Centers of Excellence.
Follow this link to take action. So easy to just click on the email template and edit for your own personal information and then send it off to your state reps asking them to cosponsor these bills.
In other news ... remember the petition to make World Down Syndrome Day an official date on the UN calendar? It has passed!
"This afternoon, in the UN Headquarters in New York, during the plenary meeting of the Third Committee, the Brazilian proposal was read and adopted by consensus, with the co-sponsorship of over 80 countries." Yay for some recognition!
Tuesday, March 29, 2011
NIH, IDEA, and Down Syndrome
The National Institutes of Health is requesting feedback about plans to create a Down syndrome research database and biobank registry.
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
The Down Syndrome Research and Treatment Foundation support these critical elements of Ds research and encourage anyone who is interested in supporting individuals with Down syndrome to sign the petition by Apr 1st to maximize the volume of responses sent to the NIH.
The petition states:
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
The Down Syndrome Research and Treatment Foundation support these critical elements of Ds research and encourage anyone who is interested in supporting individuals with Down syndrome to sign the petition by Apr 1st to maximize the volume of responses sent to the NIH.
The petition states:
I strongly support the creation of a formal Down syndrome contact registry, research database and biobank/tissue repository. I am pleased that there have been a number of substantive meetings between leading Down syndrome organizations and the NIH to assist with the preliminary planning of such registries. I encourage you to consider the recommendations that have been proposed by these organizations.
I appreciate the NIH's renewed interest in Down syndrome research and urge you fund these essential components to improve the lives of people with Down syndrome.
~~~~
The IDEA National Survey Project isn't specific to Down syndrome, but to all students in special education. The survey is to gather information to examine whether the rights of parents and children with disabilities in special education are protected. This survey is available until June 14th.
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