#GeneticDisorders
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endoexperthub.bsky.social
🌟Facts about Lipodystrophies:

Congenital generalized lipodystrophy (CGL)

#CGL #Lipodystrophy #RareDiseases #MedicalEducation #GeneticDisorders #Endocrinology #MetabolicDisorders #AGPAT2 #BSCL2
October 26, 2026 at 10:21 PM
joatmnb.bsky.social
Ever wondered why DNA testing isn't great for many common inherited diseases? Changes are on the way... Learn about the latest developments with MNB! medicalnewsbulletin.com/new-dna-test... 🧪 #Epigenetics #FHMD 🖥️ 🧬 Medskies, medtwitter, medsky, 🩺,⚕️ #geneticTesting #GeneticDisorders
New DNA Test for Inherited Muscle Diseases And More | Medical News Bulletin
Aussie DNA scientists harness nanopore DNA sequencing to create a novel approach to diagnosing inherited muscle diseases. Get the latest with MNB!
medicalnewsbulletin.com
October 20, 2026 at 3:54 PM
pharmaphorum.bsky.social
#Shionogi has reached a $2 billion agreement to buy Anglo-US biotech #IntraBio and its recently approved #Aqneursa therapy for two rare #geneticdisorders.

pharmaphorum.com/news/shionog...
Shionogi's diversification continues with $2bn IntraBio buy
Shionogi has reached a $2bn agreement to buy Anglo-US biotech IntraBio and its recently approved Aqneursa therapy for two rare genetic disorders.
pharmaphorum.com
October 5, 2026 at 12:36 PM
genseq.bsky.social
Our customers can count on our team of experts here at Genseq, to provide guidance and clarity throughout the entire testing process!

#genetics #genetictesting #geneticdiseases #geneticdisorders
August 17, 2026 at 10:07 AM
genseq.bsky.social
Our customers can count on our team of experts here at Genseq, to provide guidance and clarity throughout the entire testing process!

#genetics #genetictesting #geneticdiseases #geneticdisorders
August 17, 2026 at 10:01 AM
mymedschool.bsky.social
Learn how dynein defects cause immotile cilia and recurrent infections.
#USMLE #Pathology #Cilia #GeneticDisorders #MedicalEducation
U01.01.030 Primary ciliary dyskinesia
Carefully analyze the question to identify key clues — chronic productive cough, recurrent sinus infections, infertility, and dextrocardia. These findings point toward a condition involving defective ciliary movement. Correlate the symptoms with the underlying structural or molecular defect responsible for impaired mucociliary clearance, and select the most appropriate answer from the options.
mymedschool.org
November 6, 2025 at 12:45 AM
hemehub.bsky.social
🩸 Facts about Hereditary Hemorrhagic Telangiectasia (HHT):

Key insights into disease burden, diagnosis delays, and underlying molecular mechanisms.

#HereditaryHemorrhagicTelangiectasia #Hematology #MedicalEducation #MedEd #HemeOnc #RareDiseases #BleedingDisorders #Angiogenesis #GeneticDisorders
June 19, 2026 at 4:21 PM
citizenptnewsfl.bsky.social
Florida is taking a bold step forward in the fight against neurofibromatosis with a new research grant program aimed at transforming lives for the 11,500 residents affected.

Learn more here

#FL #GeneticDisorders #CitizenPortal #HealthResearch #LegislativeSupport
Subcommittee backs neurofibromatosis research grant program for Florida
The Health Professions and Grama Subcommittee unanimously approved HB 497 to establish a competitive neurofibromatosis research grant program at the Florida Department of Health, removing automatic recurring funding and making support subject to annual appropriations.
citizenportal.ai
February 12, 2026 at 11:19 PM
castltrastondrs.medsky.network
However, some of these drugs have shown remarkable promise in the treatment of #geneticdisorders of PI3K dysregulation, including in the activated PI3Kδ syndrome (APDS) including in the activated PI3Kδ syndrome (APDS) when used at a lower dose than in #cancertherapy

www.youtube.com/watch?v=WiJo...
Mapping the oncogenic PI3K signaling code with single-cell resolution | Dr. Ralitsa Madsen l SCP2024
YouTube video by Nikolai Slavov
www.youtube.com
November 3, 2024 at 5:31 AM
uniquecharity.bsky.social
New Guide! White-Sutton syndrome (WHSUS) (POGZ-related syndrome)

Read the guides here: bit.ly/WHSUSguide

#WhiteSuttonSyndrome #GeneticDisorders #RareChromo
April 15, 2025 at 3:22 PM
uniquecharity.bsky.social
Join the 17q12 CNV Virtual Forum!

📅 Date: 11/03/2025
🕒 Time: 08:30 - 15:00 (M.T / GMT-7)
💻 Virtual Event – Open to Participants Worldwide

🔗 Register here: https://bit.ly/17q12CNV

#17q12CNV #RareGenetics #GenomicMedicine #PrecisionMedicine #GeneticDisorders
March 7, 2025 at 5:28 PM
uniquecharity.bsky.social
Today is #TBCK Awareness Day! 🧬

To read our quick read guide on TBCK syndrome head to: bit.ly/TBCK

#TBCKAwarenessDay #RareButNotAlone #UniqueCharity #GeneticDisorders #ChromosomeDisorders
February 1, 2025 at 8:00 AM
jinternmed.bsky.social
New article to read! An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.

➡️ Identify missed diagnosis
➡️ The methods may be extended to other rare diseases

🔗 doi.org/10.1111/joim...

#geneticdisorders #PCD
November 25, 2024 at 3:47 PM
citizenptnewswa.bsky.social
The Washington State Board of Health has decided against adding Hunter syndrome to the newborn screening panel, citing concerns over limited long-term outcome data and high treatment costs.

Read the full story

#WA #GeneticDisorders #PublicHealth #CitizenPortal #HealthcareCosts
Board declines to add MPS II (Hunter syndrome) to newborn screening panel, citing limited long‑term outcome data
After a split technical advisory committee review, the board voted not to add MPS II (Hunter syndrome) to Washington’s newborn screening panel at this time, citing gaps in long‑term outcome evidence and uncertainty about the benefits relative to costs and program capacity.
citizenportal.ai
April 9, 2026 at 10:53 PM
shumailakhan.bsky.social
Cousin marriage in Pakistan is a significant factor contributing to the rise of genetic disorders, impacting the health of future generations. Awareness and education are crucial to address this issue.

#GeneticDisorders #HealthAwareness #CousinMarriage
November 30, 2024 at 1:24 AM
hdbuzzfeed.bsky.social
Who else is amped about the upcoming clinical trial updates from uniQure and PTC Therapeutics?!

Can we get a CHEE HOO?!

#brain #HuntingtonsDisease #ClinicalTrials #brain #Neuroscience #BrainHealth #MedicalResearch #GeneticDisorders #RareDisease #HDBuzz #LetsGo #cheehoo #Moana #Maui #BoatSnack
March 26, 2025 at 3:04 PM
scienceopen.bsky.social
The Journal of Biochemical and Clinical Genetics is a medical publication dedicated to the study of clinical and biochemical aspects of human genetic disorders and birth defects:

🔗 www.scienceopen.com/collection/D...

#Medicine #OpenAccess #Genetics #GeneticDisorders
Journal of Biochemical and Clinical Genetics (JBCGenetics)
<p>The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype...
www.scienceopen.com
June 13, 2025 at 1:33 PM
growingyourbaby.bsky.social
What the Elimination of the Newborn Genetic Disorder Committee Means for Children’s Health - https://www.growingyourbaby.com/what-the-elimination-of-the-newborn-genetic-disorder-committee-means-for-childrens-health/ #newbornscreeing #health #geneticdisorders
What the Elimination of the Newborn Genetic Disorder Committee Means for Children's Health
The dissolution of the Advisory Committee on Heritable Disorders could leave newborns vulnerable to undetected rare diseases. Learn how it could impact children's health across the U.S.
www.growingyourbaby.com
May 4, 2025 at 6:32 PM
oncodaily.bsky.social
FDA Novel Drug approvals in 2024 - Chris De Savi
@fda.gov

oncodaily.com/blog/215120

#Acoramidis #AcuteLeukemia #ArrhythmiaManagement #BiliaryTractCancer #Cancer #CancerCell #CellGrowth #DrugDiscovery #FDA #GeneticDisorders #Landiolol #Medicine #OncoDaily #Oncology #Revumenib #SVTtherapies
Chris De Savi: FDA Novel Drug approvals in 2024 - OncoDaily
Chris De Savi: FDA Novel Drug approvals in 2024 / Acoramidis, acute leukemia, arrhythmia management, Biliary tract cancer, cancer, Cancer Cell, cell growth,
oncodaily.com
January 2, 2025 at 5:31 PM
alternanoticias.bsky.social
Approaches to Treatment and Care for Babies with Trisomy 18 (Edwards Syndrome) killbait.com/en/approache... #health #trisomy18 #edwardssyndrome #geneticdisorders
Approaches to Treatment and Care for Babies with Trisomy 18 (Edwards Syndrome)
This article examines the complexities and evolving landscape of treatment and care for infants diagnosed with Trisomy 18, also known as Edwards syndrome, a rare genetic disorder characterized by…
killbait.com
August 1, 2025 at 6:32 AM
xstreamfm.bsky.social
AL. State Agencies:Alabama News Beacon #NewbornScreening #GeneticDisorders #PublicHealth #Alabama #Healthcare
Alabama begins screening newborns for two additional genetic disorders
[Public Health, Alabama Department of] ADPH is excited to announce that on March 13 newborn screening began for two additional treatable genetic disorders.
dlvr.it
July 3, 2025 at 6:53 PM
citizenptnewsco.bsky.social
Loveland City Council took a powerful stand for awareness by proclaiming World Neurofibromatosis Awareness Day, uniting the community in support of those affected by this genetic disorder.

Learn more here!

#LovelandCityLarimerCounty #CO #CitizenPortal #GeneticDisorders #LovelandHealth
Council Olson proclaims World Neurofibromatosis Awareness Day
Council Olson announces recognition of World Neurofibromatosis Awareness Day with community participation.
citizenportal.ai
May 22, 2025 at 4:04 PM
citizenptnewsco.bsky.social
Loveland City has officially declared May as Neurofibromatosis Awareness Month, shining a much-needed light on this rare genetic condition that affects millions worldwide.

Learn more here

#LovelandCityLarimerCounty #CO #CitizenPortal #LovelandNF #HealthAwareness #GeneticDisorders
Councilor Bills declares May 2025 as Neurofibromatosis Awareness Month
Council recognizes May 2025 to raise awareness for neurofibromatosis and its impact.
citizenportal.ai
May 22, 2025 at 4:03 PM
veilbreak.bsky.social
Cousin marriage in Pakistan is a significant factor contributing to the rise of genetic disorders, impacting the health of future generations. Awareness and education are crucial to address this issue.
#GeneticDisorders #HealthAwareness #CousinMarriage
November 30, 2024 at 4:16 PM
ucsdphysci.bsky.social
Alexis Komor's lab at UC San Diego is at the cutting edge of curing #GeneticDisorders like sickle cell anemia. Her team is working to develop the most precise, efficient base-editing tools. And none of it would be possible without federal research funding. https://bit.ly/4p2RaRw #FundScience
Science Today for a Healthier Tomorrow
In a series of videos, graduate students and researchers in biochemistry professor Alexis Komor's lab share what they're working on and the importance of federal funding.
bit.ly
November 26, 2025 at 7:00 PM