in their #NewbornScreening department who tried to get women to have #Sex with him for #Permanent jobs. That ”director” still works in that same building while they gut that department of those who stood up for the #Women THAT IS A #Blue #State where their #Legislature literally passed a #Law
October 28, 2026 at 3:35 AM
in their #NewbornScreening department who tried to get women to have #Sex with him for #Permanent jobs. That ”director” still works in that same building while they gut that department of those who stood up for the #Women THAT IS A #Blue #State where their #Legislature literally passed a #Law
• Cohesive patient data sets powered by foundations and advocacy groups
• More funding for organizations like #NORD to sustain that infrastructure
• Expanded #NewbornScreening
• Improved medical awareness and education
• Diagnostic codes for more #RareDiseases
continued...
• More funding for organizations like #NORD to sustain that infrastructure
• Expanded #NewbornScreening
• Improved medical awareness and education
• Diagnostic codes for more #RareDiseases
continued...
October 26, 2026 at 5:29 PM
• Cohesive patient data sets powered by foundations and advocacy groups
• More funding for organizations like #NORD to sustain that infrastructure
• Expanded #NewbornScreening
• Improved medical awareness and education
• Diagnostic codes for more #RareDiseases
continued...
• More funding for organizations like #NORD to sustain that infrastructure
• Expanded #NewbornScreening
• Improved medical awareness and education
• Diagnostic codes for more #RareDiseases
continued...
The American Academy of #Pediatrics has updated guidelines for #newbornscreening for #congenitalCMV, enhancing early detection & enabling timely monitoring & treatment for #infants affected by this common infection, which can lead to hearing loss & developmental problems.
October 21, 2026 at 7:04 PM
The American Academy of #Pediatrics has updated guidelines for #newbornscreening for #congenitalCMV, enhancing early detection & enabling timely monitoring & treatment for #infants affected by this common infection, which can lead to hearing loss & developmental problems.
German parents expressed strong interest in #genomic #newbornscreening, particularly for actionable conditions. Findings highlight the importance of supporting informed parental choices through clear #communication and decision aids. #GeneticTesting #Research
Read here: buff.ly/1lbx62s
Read here: buff.ly/1lbx62s
October 15, 2026 at 7:01 PM
German parents expressed strong interest in #genomic #newbornscreening, particularly for actionable conditions. Findings highlight the importance of supporting informed parental choices through clear #communication and decision aids. #GeneticTesting #Research
Read here: buff.ly/1lbx62s
Read here: buff.ly/1lbx62s
"Access starts with a proper diagnosis."
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
#EHFG2026 #RareDiseases #NewbornScreening #HLM4Rare
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
#EHFG2026 #RareDiseases #NewbornScreening #HLM4Rare
October 9, 2026 at 7:48 AM
"Access starts with a proper diagnosis."
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
#EHFG2026 #RareDiseases #NewbornScreening #HLM4Rare
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
#EHFG2026 #RareDiseases #NewbornScreening #HLM4Rare
A new resolution designates October 20, 2026, as MCAD Deficiency Awareness Day, shining a light on the critical role of newborn screening in saving lives from this rare metabolic disorder.
Learn more here!
#PA #CitizenPortal #PennsylvaniaNewbornScreening #HealthAwareness #NewbornScreening
Learn more here!
#PA #CitizenPortal #PennsylvaniaNewbornScreening #HealthAwareness #NewbornScreening
Committee designates MCAD awareness day, highlights newborn screening impact
The committee reported House Resolution 613 recognizing October 20, 2026, as MCAD deficiency awareness day; the sponsor described the condition, its prevalence (~1 in 15,000 births), the role of newborn screening and thanked CHOP and UPMC for their work.
citizenportal.ai
October 7, 2026 at 10:24 AM
A new resolution designates October 20, 2026, as MCAD Deficiency Awareness Day, shining a light on the critical role of newborn screening in saving lives from this rare metabolic disorder.
Learn more here!
#PA #CitizenPortal #PennsylvaniaNewbornScreening #HealthAwareness #NewbornScreening
Learn more here!
#PA #CitizenPortal #PennsylvaniaNewbornScreening #HealthAwareness #NewbornScreening
🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions.
In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn w
soundcloud.com
September 29, 2026 at 1:42 PM
🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
American Academy of Pediatrics Broadens Screening Recommendations for Newborns #AmericanAcademyOfPediatrics #CongenitalCmv #InfantScreening #NewbornScreening #nicu https://megadoctornews.com/american-academy-of-pediatrics-broadens-screening-recommendations-for-newborns/
American Academy of Pediatrics Broadens Screening Recommendations for Newborns
The American Academy of Pediatrics has expanded its newborn screening guidelines to make testing more cohesive for a congenital infection that can often be underdiagnosed.
megadoctornews.com
September 25, 2026 at 1:33 PM
American Academy of Pediatrics Broadens Screening Recommendations for Newborns #AmericanAcademyOfPediatrics #CongenitalCmv #InfantScreening #NewbornScreening #nicu https://megadoctornews.com/american-academy-of-pediatrics-broadens-screening-recommendations-for-newborns/
State lab will now test for Infantile Krabbe Disease and Guanidinoacetate Methyltransferase Deficiency as part of expanded newborn screening. #WFDD #NewbornScreening #PublicHealth #Krabbe
NCDHHS expands Newborn Screening Program
The State Laboratory for Public Health will now test for Infantile Krabbe Disease and Guanidinoacetate Methyltransferase Deficiency.
www.wfdd.org
September 22, 2026 at 10:25 PM
State lab will now test for Infantile Krabbe Disease and Guanidinoacetate Methyltransferase Deficiency as part of expanded newborn screening. #WFDD #NewbornScreening #PublicHealth #Krabbe
Newborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening
September 16, 2026 at 7:57 PM
Newborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening
September is Newborn Screening Awareness Month! #Newbornscreening is an essential #publichealth service that screens babies for serious but treatable medical conditions. #2026NBS
September 14, 2026 at 9:06 PM
September is Newborn Screening Awareness Month! #Newbornscreening is an essential #publichealth service that screens babies for serious but treatable medical conditions. #2026NBS
👶 September is #NewbornScreening Awareness Month. Across Europe, access to comprehensive newborn screening remains uneven, contributing to avoidable inequalities in diagnosis and care.
Learn more in ERDERA's latest #ScientificPill👉 https://loom.ly/28UA3H8
#RareDiseases #ERDERA #HealthEquity
Learn more in ERDERA's latest #ScientificPill👉 https://loom.ly/28UA3H8
#RareDiseases #ERDERA #HealthEquity
Harmonising European Newborn Screening - ERDERA
Despite the clear benefits of comprehensive newborn screening, implementation across Europe remains strikingly inconsistent. While some countries screen for more than 30 conditions, others test for fewer than 10, creating significant health inequities.
erdera.org
September 15, 2026 at 7:01 AM
👶 September is #NewbornScreening Awareness Month. Across Europe, access to comprehensive newborn screening remains uneven, contributing to avoidable inequalities in diagnosis and care.
Learn more in ERDERA's latest #ScientificPill👉 https://loom.ly/28UA3H8
#RareDiseases #ERDERA #HealthEquity
Learn more in ERDERA's latest #ScientificPill👉 https://loom.ly/28UA3H8
#RareDiseases #ERDERA #HealthEquity
What was it like writing + publishing a memoir on my #newbornscreening, rare disease mom journey - from a geneticist's perspective? Painful! And also illuminating, freeing. Because sharing our stories is empowering advocacy. www.youtube.com/watch?v=uF2H... #writingcommunity #Booksky #memoir #Momsky
Author Jennifer J. Brown Talks About Her New Memoir with Lillian Isabella
YouTube video by Lillian Isabella
www.youtube.com
September 12, 2026 at 3:00 PM
What was it like writing + publishing a memoir on my #newbornscreening, rare disease mom journey - from a geneticist's perspective? Painful! And also illuminating, freeing. Because sharing our stories is empowering advocacy. www.youtube.com/watch?v=uF2H... #writingcommunity #Booksky #memoir #Momsky
September is Newborn Screening Awareness Month! Early detection for GM1 gangliosidosis gives children the chance for earlier treatment, offering hope & better futures for our GM1 community. #NewbornScreening #EarlyDiagnosis #CureGM1
September 12, 2026 at 3:15 PM
September is Newborn Screening Awareness Month! Early detection for GM1 gangliosidosis gives children the chance for earlier treatment, offering hope & better futures for our GM1 community. #NewbornScreening #EarlyDiagnosis #CureGM1
🧬Sept is #NewbornScreening awareness month! Sharing my memoir on having 2 daughters diagnosed with rare condition #PKU after their newborn screening. A deep dive into health equity, eugenics, DNA testing, rare disease + patient rights - with 200+ primary sources. jjbrownauthor.com/books/when-t...
When the Baby Is Not OK: Hopes & Genes – About the Book
Geneticist’s Memoir of Pregnancy, Birth of Babies with Rare Disease Intimate journey navigates today’s most pressing women’s issues. When the Baby is Not OK: Hopes & Genes, a memoir of p…
jjbrownauthor.com
September 4, 2026 at 6:02 PM
🧬Sept is #NewbornScreening awareness month! Sharing my memoir on having 2 daughters diagnosed with rare condition #PKU after their newborn screening. A deep dive into health equity, eugenics, DNA testing, rare disease + patient rights - with 200+ primary sources. jjbrownauthor.com/books/when-t...
"Newborn screening is a state public health service that reaches each of the nearly 4 million babies born in the United States each year."
#NewbornScreeningAwarenessMonth #NewbornScreening
www.babysfirsttest.org/newborn-scre...
#NewbornScreeningAwarenessMonth #NewbornScreening
www.babysfirsttest.org/newborn-scre...
September 2, 2026 at 6:37 PM
"Newborn screening is a state public health service that reaches each of the nearly 4 million babies born in the United States each year."
#NewbornScreeningAwarenessMonth #NewbornScreening
www.babysfirsttest.org/newborn-scre...
#NewbornScreeningAwarenessMonth #NewbornScreening
www.babysfirsttest.org/newborn-scre...
It’s #NewbornScreening Awareness Month, which educates communities about the vital, life-saving tests performed on infants shortly after birth. #2026NBS
🧪 Did you know that several of the conditions now screened for were discovered by Lasker Award winners? Learn more: https://ow.ly/h6oZ50PJ10x
🧪 Did you know that several of the conditions now screened for were discovered by Lasker Award winners? Learn more: https://ow.ly/h6oZ50PJ10x
September 1, 2026 at 8:55 PM
It’s #NewbornScreening Awareness Month, which educates communities about the vital, life-saving tests performed on infants shortly after birth. #2026NBS
🧪 Did you know that several of the conditions now screened for were discovered by Lasker Award winners? Learn more: https://ow.ly/h6oZ50PJ10x
🧪 Did you know that several of the conditions now screened for were discovered by Lasker Award winners? Learn more: https://ow.ly/h6oZ50PJ10x
Health Authority receives newborn screening data from 2009 #faroeislands #healthdata #newbornscreening
Health Authority receives newborn screening data from 2009
The Health Authority has received data from heel-prick blood samples taken from babies born in the Faroe Islands since 2009, Kringvarp Føroya reported on Monday. The data was provided by Denmark’s Statens Serum Institut at the request of Faroese authorities. The records, known as PKU data, includ…
www.dailynorthern.com
August 31, 2026 at 8:30 AM
Health Authority receives newborn screening data from 2009 #faroeislands #healthdata #newbornscreening
Genome-based newborn screening identified CLN2 Batten disease before symptoms appeared, enabling early treatment and demonstrating the promise of genomic screening for treatable rare disorders. bit.ly/4y1a0fK #GIMO #CLN2 #BattenDisease #NewbornScreening #TPP1
August 26, 2026 at 1:52 AM
Genome-based newborn screening identified CLN2 Batten disease before symptoms appeared, enabling early treatment and demonstrating the promise of genomic screening for treatable rare disorders. bit.ly/4y1a0fK #GIMO #CLN2 #BattenDisease #NewbornScreening #TPP1
Anyone close to the world of #newbornscreening knows of its current public health value and that genomics has been touted as its future. This excellent feature in Nature lays out the issues/obstacles www.nature.com/articles/d41...
Screening babies’ genomes could save lives. Here’s how it would work
Massive genomic newborn-screening studies are under way all over the globe. But questions about scalability, feasibility and net benefit remain.
www.nature.com
August 21, 2026 at 3:07 PM
Anyone close to the world of #newbornscreening knows of its current public health value and that genomics has been touted as its future. This excellent feature in Nature lays out the issues/obstacles www.nature.com/articles/d41...
Recent ELSI publication: “Genomics to Enhance Newborn Screening?” by Alban Ziegler & Wendy K. Chung explores how DNA sequencing as a first-tier test could expand screening for actionable genetic conditions.
Read: www.gimjournal.org/article/S109...
#ELSI #Genomics #NewbornScreening
Read: www.gimjournal.org/article/S109...
#ELSI #Genomics #NewbornScreening
August 20, 2026 at 10:00 PM
Recent ELSI publication: “Genomics to Enhance Newborn Screening?” by Alban Ziegler & Wendy K. Chung explores how DNA sequencing as a first-tier test could expand screening for actionable genetic conditions.
Read: www.gimjournal.org/article/S109...
#ELSI #Genomics #NewbornScreening
Read: www.gimjournal.org/article/S109...
#ELSI #Genomics #NewbornScreening
The director of our #newbornscreening follow-up program, Angela Wittenauer (3rd from right), won an award! The Judi Tuerck Newborn Screening Follow-up and Education Award From @aphl.org: www.aphlblog.org/aphl-honors-...
APHL Honors 2025 Newborn Screening Award Winners - APHL Blog
For Immediate Release Providence, Rhode Island, October 8, 2025 – At the 2025 Association of Public Health Laboratories (APHL) Newborn Screening Symposium, APHL presented six awards to leaders who ha...
www.aphlblog.org
October 8, 2025 at 5:31 PM
The director of our #newbornscreening follow-up program, Angela Wittenauer (3rd from right), won an award! The Judi Tuerck Newborn Screening Follow-up and Education Award From @aphl.org: www.aphlblog.org/aphl-honors-...