#Geneticscreening
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momrunninglate.bsky.social
#19 from my Women in STEM series: Mary-Claire King

#WomeninSTEM
#academicsky
#genetics
#geneticscreening
#breastcancer
#UCBerkeley
Mary-Claire King (born 1946) is an American geneticist. She earned her doctorate in genetics from the University of California, Berkeley, in the early 1970s, where her research demonstrated that humans and chimpanzees are 99% genetically identical, supporting the theory of their divergence five million years ago. While still at Berkeley, she linked inherited mutations in the BRCA1 and BRCA2 genes to increased risks of breast and ovarian cancers, revolutionizing cancer research and advancing genetic screening and early detection. Since 1990, King's research has expanded to include the genetic causes of hearing loss and schizophrenia. She has also applied her expertise to human rights, identifying missing persons from Argentina's "Dirty War" and reuniting stolen children with their families. King has received numerous honors, including the Lasker Award, the Shaw Prize, the National Medal of Science, and honorary doctorates from Harvard and the University of Barcelona.
January 23, 2025 at 12:01 AM
currentmedscience.bsky.social
This study reveals that patients with early-onset diabetes and multigenerational family history harbor #GeneVariants, underscoring #GeneticScreening as the key to precise diagnosis, tailored therapy, prognosis evaluation, and counseling. #medsky

Read: link.springer.com/article/10.1...
Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees
December 3, 2025 at 1:15 PM
sciencefeatured.bsky.social
Serbia launches a nationwide program to shield newborns from a devastating condition! scft.link/eK1qu

Work by:
✍ Milos Brkusanin, PhD
✍ Dusanka Savic Pavicevic
✍ Nemanja Garai

#NewbornHealth #GeneticScreening #SMA #PublicHealth #MedicalInnovation #sciencefeatured #sciencenews
Serbia’s Bold Move to Shield Newborns from a Devastating Condition | Science Featured Series
Spinal muscular atrophy poses a significant concern for healthcare providers. This rare genetic condition primarily affects children, weakening muscles and ...
scft.link
January 31, 2025 at 11:19 AM
genesprouttest.bsky.social
🎉🧬 Hooray for National #DNA Day! 🎉🧬 Celebrated April 25, it honors the discovery of DNA’s double helix and the Human Genome Project. GeneSprout helps parents take action early with #geneticscreening for #childhood #conditions—built for parents, backed by #science. 🎉🧬

Learn More at GeneSprout.com
April 25, 2026 at 12:35 PM
jamanetworkopen.com
Combining implementation science and informatics infrastructure supported scalable and equitable delivery of genomic screening for CDC Tier 1 conditions. #PublicHealth #GeneticScreening

ja.ma/44t0CoC
Map of South Carolina showing counties colored by value ranges: yellow for <500, light green for 500-999, medium green for 1000-1999, dark green for 2000-2999, and darkest green for 3000-4999. Higher values are concentrated in the southeastern coastal region.
July 16, 2026 at 1:30 PM
aiinmeditech.bsky.social
New Cardiomyopathy KOL Perception Primary Research Study
Insights from cardiologists, HF specialists, and HCM experts reveal growing demand for:
• Earlier diagnosis
• Disease-modifying therapies

Read more:
www.sperresearch.com/Case-Studies...

#Cardiomyopathy #PrecisionCardiology #GeneticScreening
US Cardiomyopathy KOL Study: Precision Medicine, Genetic Testing & Therapy Trends
Explore key insights from a US cardiomyopathy KOL perception study covering unmet needs, genetic testing, precision medicine, reimbursement barriers, and future therapy trends in cardiomyopathies.
www.sperresearch.com
May 25, 2026 at 10:43 AM
gmj-georgia.bsky.social
Glaucoma, the leading cause of irreversible blindness, often progresses silently for years. New research suggests genetic markers could identify at-risk patients before s…

#Earlydetection #Eyehealth #Geneticscreening #Glaucoma #Ophthalmology

#Earlydetection #Eyehealth #Geneticscreening #Glaucom…
Genetic Screening May Prevent Glaucoma Vision Loss
Glaucoma, the leading cause of irreversible blindness, often progresses silently for years. New research suggests genetic markers could identify at-risk patients before s… #Earlydetection #Eyehealth #Geneticscreening #Glaucoma #Ophthalmology
news.gmj.ge
September 28, 2026 at 1:26 PM
genesprouttest.bsky.social
Fall sports are here! #Sports physicals can miss silent #heart conditions. #Geneticscreening can identify risks for conditions like Long QT Syndrome and ARVC, which can cause sudden cardiac arrest. Know your child’s risks with #GeneSprout. #FallSports #PediatricPrecisionHealth 🏈👟🎽⚽🧬💚
September 15, 2026 at 12:35 PM
genesprouttest.bsky.social
On June 26th 2000, the Human Genome Project reached a historic milestone, paving the way for #genomic #medicine. Today, #pediatric #geneticscreening helps identify risks earlier, enabling proactive, personalized care and healthier futures for #children.

Learn More at buff.ly/h9dJqVH
June 26, 2026 at 12:35 PM
genesprouttest.bsky.social
GeneSprout genetic screening proactively identifies underlying disease risk near the beginning of life and connects families to targeted interventions sooner.
#PediatricPrecisionHealth #GeneticScreening #EarlyDetection
Download the white paper: buff.ly/2hg9ylK
June 22, 2026 at 12:35 PM
genesprouttest.bsky.social
The greatest gift a mother can receive is peace of mind.  💚 This Mother's Day, we're celebrating all moms who are proactive advocates for their child's health. #MothersDay #GeneticScreening #childhealth #proactiveparent #pediatric #DNA #genome #prevention
May 8, 2026 at 12:35 PM
genesprouttest.bsky.social
May is national physical #fitness and #sports month! #Children undergo sports physicals before participating in sports but these physicals are limited in detecting silent #heart #conditions. #Geneticscreening can identify these silent risks. Know your child's risks before they play, with GeneSprout.
May 6, 2026 at 10:05 PM
genesprouttest.bsky.social
April 19-25 is National Infertility Awareness Week. 1 in 6 people are impacted by #infertility. Many families choose assisted #reproductive technologies to build their families. Many parents pursue #geneticscreening once their baby arrives. Learn more at buff.ly/RUOnXiC

#newborn #genomic #parent
April 20, 2026 at 12:35 PM
genesprouttest.bsky.social
Don't leave your child's #health to chance or good luck. ☘️ Through #geneticscreening, it's now possible to know the best health outcomes for your #child. GeneSprout's #pediatric and #genetic experts guide you to ensure your child's genetic journey is rewarding and empowering.

Visit buff.ly/TDPFRpb
March 17, 2026 at 12:35 PM
pet-bionews.bsky.social
SAVE THE DATE: #PETConf25
This full day in-person event will take place on 10 December in Central London. Make sure you are part of the debate.
Details of all upcoming events: www.progress.org.uk/events/upcom...

#fertility #genetics #events #familylaw #DNA #infertility #geneticscreening
March 18, 2025 at 10:52 AM
citizenptnewsmn.bsky.social
Minnesota is taking a monumental step in newborn health by adding Metachromatic Leukodystrophy to its screening list, bringing hope to families affected by this devastating disorder.

Learn more here!

#MN #FamilySupport #MinnesotaNewborns #GeneticScreening #HealthInnovation #CitizenPortal
Minnesota pioneers gene therapy advancements for families affected by loss
Minnesota accelerates gene therapy and testing following recent child loss experiences.
citizenportal.ai
February 21, 2025 at 8:40 PM
citizenptnewsma.bsky.social
Massachusetts has taken a crucial step in newborn health by mandating that labs notify physicians about sickle cell trait screening results.

Click to read more!

#MA #PublicPolicy #CitizenPortal #HealthAwareness #GeneticScreening
Massachusetts mandates notification for newborns with sickle cell trait screening results
Legislation requires labs to inform physicians of sickle cell trait in newborn screenings
citizenportal.ai
June 22, 2025 at 4:21 PM
perkinsinstitute.bsky.social
Sudden infant death is a tragic reality which affects hundreds of Australian families.

The Perkins is hosting a FREE genetic screening Q&A on February 27: bit.ly/4hIKtA0

#SuddenInfantDeath #GeneticScreening #MackenziesMission #FamilySupport #MedicalResearch

thewest.com.au/lifestyle/st...
WA Foundation offering support to bereaved parents
It was deep in the depths of that pain, while grappling with the unbearable weight of being a mother mourning a child, that Kelly Binnington decided the only way out was through connection.
thewest.com.au
February 10, 2025 at 2:12 AM
citizenptnewsar.bsky.social
Arkansas lawmakers are on the brink of a healthcare revolution, proposing a bill that could transform the early detection of Duchenne Muscular Dystrophy in newborns.

Learn more here!

#AR #GeneticScreening #CitizenPortal #PediatricHealth
Arkansas House Bill adds Duchenne muscular dystrophy to newborn screening law
Arkansas General Assembly approves testing for Duchenne muscular dystrophy in newborn screenings.
citizenportal.ai
April 14, 2025 at 9:10 PM
emojinews.org
👶🏻🇬🇧🧬🔬✅ #UKHealth #GeneticScreening
All babies in England to get DNA test to assess risk of diseases within 10 years
www.theguardian.com
June 21, 2025 at 2:00 PM
irisrichardson.com
@irisknowsart.bsky.social www.medpagetoday.com/special-repo... #USA #pregnancy #infants #family #healthcare #geneticscreening #preventabledeseases #DMA #NewbornScreening #medicin #research #parenting #childcare
HHS Scraps Advisory Committee on Newborn Screening
Cut comes as new conditions could have been added to a national screening panel
www.medpagetoday.com
April 24, 2025 at 12:10 PM
gmj-georgia.bsky.social
BREAKING: UK dramatically restricts prostate cancer screening to only men with dangerous genetic variants like BRCA2 and family cancer histo…

#BRCA2 #Geneticscreening #Precisionmedicine #Prostatecancer #UKhealthpolicy

#BRCA2 #Geneticscreening #Precisionmedicine #Prostatecancer #UKhealthpolicy

…
UK Restricts Prostate Cancer Screening to Few Thousand
BREAKING: UK dramatically restricts prostate cancer screening to only men with dangerous genetic variants like BRCA2 and family cancer histo… #BRCA2 #Geneticscreening #Precisionmedicine #Prostatecancer #UKhealthpolicy
news.gmj.ge
June 14, 2026 at 12:47 PM
teasemporiumandco.bsky.social
www.cbc.ca/news/health/...

#cancer
#princessMargaret
#Geneticscreening
#Hereditary
#Canadians
#Genetics
#Science
#health
#Canadianhealth
#cancerresearch
Major genetic screening project to check hereditary cancer, high cholesterol risk of up to 100,000 Canadians | CBC News
Over the the next five years, up to 100,000 people in Ontario will be screened for genetic conditions that increase their risk of hereditary cancers and a condition tied to high cholesterol and heart ...
www.cbc.ca
November 6, 2025 at 12:10 PM
newsmedical.bsky.social
Genetic screening and counseling slash young adults' excessive drinking, new study reveals 🧬🍺📉 www.news-medical.net/news/2024052... #Alcohol #GeneticScreening #YoungAdults #PublicHealth #BehavioralChange #AlcoholUseDisorder #ExcessiveDrinking
Genetic screening and counseling slash young adults' excessive drinking, new study reveals
A recent randomized controlled trial found that short-term interventions combining enzyme substances and behavioral changes significantly reduced excessive alcohol intake among young adults.
www.news-medical.net
May 28, 2024 at 4:29 AM