Although Blu Genes Foundation grew from a personal mission, our goal is to not only support the development of promising treatment options for Tay-Sachs Disease, but to also fund the groundbreaking research that may one day provide options for families living with other rare genetic diseases as well.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing #sickkids #research
Jul 26
Although Blu Genes Foundation grew from a personal mission, our goal is to not only support the development of promising treatment options for Tay-Sachs Disease, but to also fund the groundbreaking research that may one day provide options for families living with other rare genetic diseases as well.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing #sickkids #research
In most cases, two defective copies of a gene - one from each parent - are necessary to cause a genetic disorder in their child. In this case, each parent is a carrier who is generally unaffected by the condition. Since each of these parents provides one copy of the gene to a child, there is a 1 in 4 chance that their child would have the disease. Other possibilities for their child would be two normal copies (1 in 4 chance) or one normal copy and one defective copy; this child would be a carrier (2 in 4 chance).
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 23
In most cases, two defective copies of a gene - one from each parent - are necessary to cause a genetic disorder in their child. In this case, each parent is a carrier who is generally unaffected by the condition. Since each of these parents provides one copy of the gene to a child, there is a 1 in 4 chance that their child would have the disease. Other possibilities for their child would be two normal copies (1 in 4 chance) or one normal copy and one defective copy; this child would be a carrier (2 in 4 chance).
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Blu Genes Foundation was founded 7 years ago - and since then weβve been able to fund an innovative gene editing research project ongoing at @SickKidsVS, and the fight to find a cure for Tay-Sachs Disease continues.
We are proud of the work and progress made so far!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing #sickkids #research
Jul 21
Blu Genes Foundation was founded 7 years ago - and since then weβve been able to fund an innovative gene editing research project ongoing at @SickKidsVS, and the fight to find a cure for Tay-Sachs Disease continues.
We are proud of the work and progress made so far!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing #sickkids #research
In some cases, only one defective copy of a gene is enough to cause a genetic disorder. These can arise by a spontaneous mutation (a new error that occurs in the DNA), but generally they are diseases that donβt show their effects right away, so an affected individual has already had a child by the time the disease is apparent.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 19
In some cases, only one defective copy of a gene is enough to cause a genetic disorder. These can arise by a spontaneous mutation (a new error that occurs in the DNA), but generally they are diseases that donβt show their effects right away, so an affected individual has already had a child by the time the disease is apparent.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
How common are genetic disorders? Though individually rare, collectively they affect millions of people worldwide, including many children. According to @WHO, the prevalence of all single-gene disorders at birth is 10 in 1,000. In the general population, approximately 1 in 250 people are a carrier for Tay-Sachs disease. However, in people of Ashkenazi Jewish descent, the number rises to 1 in 27. You may not have heard of Tay-Sachs disease, but other monogenic disorders have more familiar names, such as cystic fibrosis, hemophilia and sickle-cell disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 17
How common are genetic disorders? Though individually rare, collectively they affect millions of people worldwide, including many children. According to @WHO, the prevalence of all single-gene disorders at birth is 10 in 1,000. In the general population, approximately 1 in 250 people are a carrier for Tay-Sachs disease. However, in people of Ashkenazi Jewish descent, the number rises to 1 in 27. You may not have heard of Tay-Sachs disease, but other monogenic disorders have more familiar names, such as cystic fibrosis, hemophilia and sickle-cell disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Medicaid coverage of the whole-genome sequencing test can expand access for infants; the state-federal program that insures low-income families covers more than 40% of children in their first year of life. Whole-genome sequencing has been commercially available for about six years, and it can help sick infants with potentially rare diseases avoid a months- or years-long odyssey of tests and hospitalizations without a clear diagnosis β and increase survival. Studies show rapid whole-genome testing may lower overall health costs by reducing unnecessary hospitalizations, testing, and care.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 12
Medicaid coverage of the whole-genome sequencing test can expand access for infants; the state-federal program that insures low-income families covers more than 40% of children in their first year of life. Whole-genome sequencing has been commercially available for about six years, and it can help sick infants with potentially rare diseases avoid a months- or years-long odyssey of tests and hospitalizations without a clear diagnosis β and increase survival. Studies show rapid whole-genome testing may lower overall health costs by reducing unnecessary hospitalizations, testing, and care.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Few hospitalized babies with an undiagnosed illness undergo whole-genome sequencing β a diagnostic tool that allows scientists to quickly identify genetic disorders and guide cliniciansβ treatment decisions by analyzing a patientβs complete DNA makeup.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 10
Few hospitalized babies with an undiagnosed illness undergo whole-genome sequencing β a diagnostic tool that allows scientists to quickly identify genetic disorders and guide cliniciansβ treatment decisions by analyzing a patientβs complete DNA makeup.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Many private and public health insurers wonβt cover the $4,000-to-$8,000 expense of whole-genome sequencing. Florida now is among eight state Medicaid that programs do. An alliance of genetic testing companies, drugmakers, childrenβs hospitals and doctors have lobbied states to increase coverage under Medicaid β and their efforts have begun to pay off. Since 2021, eight state Medicaid programs have added rapid whole-genome sequencing to their coverage or will soon cover it, according to GeneDX, a provider of the test. Read more at the link in our bio
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Jul 7
Many private and public health insurers wonβt cover the $4,000-to-$8,000 expense of whole-genome sequencing. Florida now is among eight state Medicaid that programs do. An alliance of genetic testing companies, drugmakers, childrenβs hospitals and doctors have lobbied states to increase coverage under Medicaid β and their efforts have begun to pay off. Since 2021, eight state Medicaid programs have added rapid whole-genome sequencing to their coverage or will soon cover it, according to GeneDX, a provider of the test. Read more at the link in our bio
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #genome #genomesequencing
Celebrating 4th of July with our friends in the US! πΊπΈ
Enjoying the long weekend.
Happy Canada Day! π¨π¦
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #canadaday #happycanadaday
Jul 1
Enjoying the long weekend.
Happy Canada Day! π¨π¦
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #canadaday #happycanadaday
Every year, Dr. Evgueni Ivakine attends our Afternoon Tea for Blu and helps educate us on Tay-Sachs Disease, Rare Genetic Disorders, and the research being done on Gene Therapy at @SickKidsVS. We are grateful to have his support and expertise.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #sickkids
Jun 27
Every year, Dr. Evgueni Ivakine attends our Afternoon Tea for Blu and helps educate us on Tay-Sachs Disease, Rare Genetic Disorders, and the research being done on Gene Therapy at @SickKidsVS. We are grateful to have his support and expertise.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #sickkids
A special thank you to our special presenting sponsor - @BMO. Supporting our Afternoon Tea year after year means the world to us!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope
Jun 25
A special thank you to our special presenting sponsor - @BMO. Supporting our Afternoon Tea year after year means the world to us!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope
What exactly is a Genetic Disorder? Genetic disorders occur when there is a functional error or mutation in the DNA that results in disease.
Genetic disorders are caused by a direct, single-gene error, while other diseases such as cancer, have a genetic component that can result from complex combinations of both genetic and environmental factors.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope
Jun 20
What exactly is a Genetic Disorder? Genetic disorders occur when there is a functional error or mutation in the DNA that results in disease.
Genetic disorders are caused by a direct, single-gene error, while other diseases such as cancer, have a genetic component that can result from complex combinations of both genetic and environmental factors.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope
A moment for the Fascinators. π
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #liveillustration #fascinator
Jun 18
A moment for the Fascinators. π
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #liveillustration #fascinator
Celebrating all the Dadβs today. π
Happy Fatherβs Day!
Did you have your illustration done at our 2024 Afternoon Tea for Blu?
@nessalilly & @stephanieanne0
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #liveillustration #event
Jun 14
Did you have your illustration done at our 2024 Afternoon Tea for Blu?
@nessalilly & @stephanieanne0
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #liveillustration #event
When someone in your life receives a Tay-Sachs diagnosis, itβs normal to feel overwhelmed. Take the time you need to absorb the news and process your emotions. Consider reaching out to family, friends, and neighbors to build a support network to help you today and moving forward.
Blu Genes Foundation is here for you.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #infantiletaysachs
Jun 11
When someone in your life receives a Tay-Sachs diagnosis, itβs normal to feel overwhelmed. Take the time you need to absorb the news and process your emotions. Consider reaching out to family, friends, and neighbors to build a support network to help you today and moving forward.
Blu Genes Foundation is here for you.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #infantiletaysachs
A beautiful photobooth setup for our beautiful guests! Thanks to @stemzflowers and @magneticphotobooth
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #photobooth #florals
Jun 9
A beautiful photobooth setup for our beautiful guests! Thanks to @stemzflowers and @magneticphotobooth
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #donate #photobooth #florals
It was a beautiful day for an Afternoon Tea. πβ
For those diagnosed with Infantile Tay-Sachs Disease, between 3β6 months of age, you may notice your child begin to regress, not achieve typical milestones, and exhibit a strong startle response.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope
Jun 3
For those diagnosed with Infantile Tay-Sachs Disease, between 3β6 months of age, you may notice your child begin to regress, not achieve typical milestones, and exhibit a strong startle response.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope