The rare genetic disorder shortening the life span of boys
By Jasmine Hines
When Skye Scott took her son to a paediatrician, she never imagined he would be diagnosed with the life-changing Duchenne muscular dystrophy.
https://www.abc.net.au/news/2025-11-09/nayte-scott-duchenne-muscular-dystrophy-cq/105980892
#Geneticdisorders #ChildrensHealth #MedicalResearch #Health #JasmineHines
Learn how dynein defects cause immotile cilia and recurrent infections.
#USMLE #Pathology #Cilia #GeneticDisorders #MedicalEducation
Isla Steed is your typical teen but a genetic anomaly sets her apart
By Duncan Bailey
Fourteen-year-old Isla Steed has unique challenges as one of just four people in Australia diagnosed with CHOPS syndrome.
https://www.abc.net.au/news/2025-10-11/rare-genetic-disorder-chops-syndrome/105648828
#Geneticdisorders #ChildrensHealth #RegionalCommunities #PeopleWithDisability #DuncanBailey
The challenging rare condition that makes most fruit and veg off limits
By Jessica Ross
A Queensland woman is on a mission to raise awareness about hereditary fructose intolerance, after having to wait until age 45 to understand why so many foods make her sick.
https://www.abc.net.au/news/2025-10-09/hereditary-fructose-intolerance-support-group/105762986
#Geneticdisorders #FoodandDrink #FoodSafety #Health #JessicaRoss
๐๐๐ด๐๐๐ ๐ถ๐ ๐ฆ๐ฝ๐ถ๐ป๐ฎ๐น ๐ ๐๐๐ฐ๐๐น๐ฎ๐ฟ ๐๐๐ฟ๐ผ๐ฝ๐ต๐ (๐ฆ๐ ๐) ๐๐๐ฎ๐ฟ๐ฒ๐ป๐ฒ๐๐ ๐ ๐ผ๐ป๐๐ต, dedicated to raising support and knowledge about this rare hereditary neurological disorder. SMA causes the gradual loss of motor neurons in the spinal cord, leading to muscle weakness, difficulty with voluntary movements, swallowing, breathing, and scoliosis. It is a leading genetic cause of infant mortality but can also affect older children and adults in milder forms. Early diagnosis and a combination of treatmentsโincluding medication, physical therapy, and supportive careโcan help improve quality of life. This month, letโs unite to educate, fund research, support families, and bring hope for a future cure.
#SMAAwarenessMonth #SpinalMuscularAtrophy #RareDiseaseAwareness #MotorNeuronDisease #MuscleWeakness #EarlyDiagnosis #SupportSMAFamilies #GeneticDisorders #ResearchForACure #PhysicalTherapy #HealthcareSupport #SCABPharmacy
๐จ๐ป๐ฑ๐ฒ๐ฟ๐๐๐ฎ๐ป๐ฑ๐ถ๐ป๐ด ๐๐๐ข๐ฉ๐๐ฆ ๐ฆ๐๐ป๐ฑ๐ฟ๐ผ๐บ๐ฒ: ๐๐ฟ๐ถ๐ป๐ด๐ถ๐ป๐ด ๐๐๐ฎ๐ฟ๐ฒ๐ป๐ฒ๐๐ ๐๐ผ ๐ฎ ๐ฅ๐ฎ๐ฟ๐ฒ ๐๐ผ๐ป๐ฑ๐ถ๐๐ถ๐ผ๐ป
CLOVES Syndrome is a rare congenital disorder involving overgrowth of fatty tissue, vascular malformations, skin abnormalities, and skeletal issues. Early diagnosis and specialized care are crucial for managing this complex condition and improving quality of life.
Expert multidisciplinary care, advanced diagnostic tools, and treatment options like surgery, targeted medications, and physical therapy can help control symptoms and prevent complications.
Join us in spreading awareness on #ClovesSyndromeAwarenessDay to support patients and families affected by this rare disorder.
๐๐ฒ๐ ๐ฆ๐ถ๐ด๐ป๐ ๐๐ผ ๐ช๐ฎ๐๐ฐ๐ต ๐๐ผ๐ฟ:
- Unusual fatty tissue overgrowth
- Vascular malformations causing swelling or pain
- Skin lesions like epidermal nevi
- Skeletal deformities such as scoliosis
If you or someone you know shows these symptoms, consult a specialist promptly.
Together, we can make a difference!
#CLOVESSyndrome #RareDiseaseAwareness #CongenitalDisorders #VascularMalformations #OvergrowthDisorders #GeneticDisorders #RareDiseaseSupport #HealthcareAwareness #MultidisciplinaryCare #SCABPharmacy
New research tipped to be 'life-changing' for people who stutter
By Lily Kristanto
A new global study has identified a hereditary link associated with stuttering, and experts have said the research will be key to providing early intervention for people who struggle with the condition.
https://www.abc.net.au/news/2025-08-02/stutter-research-curtin-life-changing/105600712
Organ transplants gave family the 'gift of life' three times
By James Paras
After three successful organ transplants, the Stolkers say they've been given a new lease on life. Now they're campaigning for more Australians to become donors.
I remember a young couple in my clinic, their faces etched with worry. Theyโd just come from a specialist, the words "Heterotaxy Syndrome" echoing in their minds. #atrialisomerism #congenitalheartcondition #geneticdisorders #heterotaxysyndrome #organmalformation #pediatriccardiology #situsinversus
This 300-page mirror life report has scientists terrified
#fyi #science #biology #microbiology #bacteria #ImmuneSystem #GeneticAlterations #geneticalterations #GeneticDisorders #Tibees
https://www.youtube.com/watch?v=23XrmRKVi_M&list=UULF52kszkc08-acFOuogFl5jw&index=1
I remember a young mom, clearly exhausted and deeply worried, sitting in my clinic. Her little boy, Liam, just a toddler, kept getting these intense fevers that would come out of nowhere. #childhoodillness #geneticdisorders #inflammation #PeriodicFeverSyndromes #recurrentfevers #SAIDs #SystemicAutoinflammatoryDiseases
#EhlersDanlos #hypermobility #GeneticDisorders
Excerpt: "As someone diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS) recently, I was intrigued to discover Francesca dePasquale's Hypermobile Musician, a resource aimed at educating and supporting teachers and musicians about hypermobility. I spoke with Francesca about her experiences and the importance of raising awareness around hypermobility in the music industry. Read the full interview below."
๐ช๐ผ๐ฟ๐น๐ฑ ๐ฆ๐ถ๐ฐ๐ธ๐น๐ฒ ๐๐ฒ๐น๐น ๐๐ฎ๐ โ ๐ญ๐ต ๐๐๐ป๐ฒ ๐ฎ๐ฌ๐ฎ๐ฑ
๐ง๐ต๐ฒ๐บ๐ฒ: Global Action, Local Impact: Empowering Communities for Effective Self-Advocacy
๐ช๐ต๐ ๐๐ ๐ ๐ฎ๐๐๐ฒ๐ฟ๐:
Sickle cell disease (SCD) affects over 300,000 births globally every year, with a large burden in low- and middle-income countries like India. It disproportionately impacts marginalized communities, especially tribal populations who face socioeconomic challenges. Awareness and early diagnosis are crucial to reduce complications and improve quality of life.
๐๐ฏ๐ผ๐๐ ๐๐ต๐ฒ ๐๐ฎ๐:
World Sickle Cell Day was established by the United Nations in 2008 to spotlight sickle cell disease as a major genetic health concern. The day promotes public education, encourages screening, and supports affected individuals and families worldwide.
๐๐ฒ๐ ๐ฃ๐ผ๐ถ๐ป๐๐ ๐๐ผ ๐ฆ๐ต๐ฎ๐ฟ๐ฒ:
- Sickle cell disease is a genetic blood disorder causing abnormal red blood cells that affect oxygen delivery.
- Early diagnosis through newborn screening and blood tests is vital.
- Communities need empowerment to advocate for better healthcare access and support.
- Knowing your sickle cell trait status helps in family planning and prevention strategies.
๐๐ผ๐ ๐ฌ๐ผ๐ ๐๐ฎ๐ป ๐๐ฒ๐น๐ฝ:
- Get tested or encourage others to get screened, especially before pregnancy.
- Support local and global awareness campaigns.
- Share accurate information about SCD symptoms, treatment, and prevention.
- Advocate for better healthcare policies and resources for affected communities.
Letโs unite on 19 June 2025 to empower communities and create lasting change for people living with sickle cell disease.
#WorldSickleCellDay #SickleCellAwareness #SickleCellDisease #GlobalActionLocalImpact #EmpowerCommunities #GetTested #HealthEquity #GeneticDisorders #EarlyDiagnosis #SupportSickleCellPatients #HealthForAll #BloodDisorders #KnowYourStatus #SCABPharmacy
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:
๐ https://www.scienceopen.com/collection/DiscoverSTM_JBCGenetics
๐ #InternationalAlbinismAwarenessDay๐
Albinism is a rare inherited condition causing little or no melanin in skin, hair, and eyes. This makes individuals highly vulnerable to UV rays, increasing the risk of severe skin damage and skin cancer.
People with albinism need lifelong sun protection including sunscreen, sunglasses, and protective clothing. Unfortunately, many lack access to these essential resources, especially in low-income regions.
Raising awareness helps promote healthcare access, reduce stigma, and protect the rights of people with albinism. Together, we can prevent avoidable complications like melanoma and blindness.
Letโs keep pushing for inclusion, health equity, and respect for all.
#IAAD2025 #AlbinismAwareness #ProtectTheLight #SunSafety #SkinCancerPrevention #InclusiveHealth #GeneticDisorders #OculocutaneousAlbinism #HealthForAll #SupportAlbinos #SCABPharmacy
Only three cases of Blepharoptosis-myopia-ectopia lentis syndrome have been documented since its discovery in 1982. This rare condition is inherited in an autosomal dominant pattern, meaning it can be passed from one generation to the next.
#RareDiseases #GeneticDisorders
Prenatal genetic testing can now detect nearly 300 disorders and treat many of them in utero or shortly after birth. #pregnancy #genetics #genetictesting #geneticdisorders
Prenatal genetic testing can now detect nearly 300 disorders and treat many of them in utero or shortly after birth. #pregnancy #genetics #genetictesting #geneticdisorders
Explore orphan medicine for rare diseases. Learn about treatment access, research breakthroughs, and patient support. Navigate the complexities of rare disease care.
https://www.mrmed.in/health-library/health-care/orphan-drugs-rare-diseases
#RareDisease #OrphanDrugs #MedicalInnovation #PatientAdvocacy #RareDiseaseAwareness #GeneticDisorders #Healthcare #MedicalResearch
Niemann-Pick Disease Drug Type C Treatment: An Inherited Lysosomal Storage Disorder
Niemann-Pick disease (NPD) is a rare, inherited lysosomal storage disorder characterized by the abnormal accumulation of fatty substances called lipids within cells of the reticuloendothelial system.
Niemann-Pick Disease Drug Type C Treatment - https://prateikcmi.hashnode.dev/inherited-rare-neurodegenerative-disorder-understanding-niemann-pick-disease-drug-type-c-treatement
#NiemannPickDisease #GeneticDisorders #LysosomalStorageDisease #SphingomyelinaseDeficiency #CoherentMarketInsights
