The Christ Hospital Health Network’s Post

Nowadays, Genetic tests are so easily available in the market. And that has been reason for its increased use ( at times - misuse ). Even today, your clinical history and examination should stay as a backbone in making any complicated diagnosis and such genetic tests should be used merely to confirm your diagnosis which could assist in counselling the patients. Here’s my insight regarding the same in brief how clinical history and examination could be assisted with genetic tests in getting rare diagnosis in Pediatric Pulmonology. https://lnkd.in/dJirpVfb

A summary of important clues to make the diagnosis of NF1. Check out the rest of the Genome Section at ObG, which includes quick reviews of common genetic disorders that we may see in our practice https://lnkd.in/ePgZApWR #medical #genetics #obstetrics #ObGyn #womenshealth

We can progress toward more accurate therapeutic and diagnostic procedures that take into account each patient's unique genetic profile thanks to neurogenetics. Learn More: https://lnkd.in/eVxAEpcQ #sequencemd #diagnosis #diseasetreatment #neurologicaldisorders #neurological #geneticneurologicaldisorders #neurogenetics #genetics #genetictesting

On 1st November, 2023, Genetic Carrier Screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) was added to the MBS, marking a significant milestone in preventative medicine and greatly enhancing the accessibility of this screening for patients. Associate Professor Mirette Saad's article from the latest edition of our Pathology Focus medical newsletter, “Bulk-Billed Genetic Carrier Screening: A milestone for preventative medicine,” offers valuable insights for GPs and obstetricians on the conditions covered, Medicare eligibility criteria, and interpreting test results. Plus, hear directly from two GPs about their experiences since the MBS changes. To read the full article, click the link below: #geneticcarrierscreening #preventativemedicine #MBSupdates #PathologyFocus #healthcareaccessibility #AustralianClinicalLabs

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

Stargardts, also known as juvenile macular degeneration, is an inherited eye disease that affects children and young adults, leading to permanent vision loss. The photoreceptors in the macula begin to expire, causing blurry central vision and black spots, leaving individuals to rely on peripheral vision. Another side effect is difficulty in seeing colors well. While the disease progresses slowly at first, it eventually accelerates until vision reaches 20/200 (legal blindness) before stabilizing. If you suspect Stargardts, consult a pediatric ophthalmologist for a formal diagnosis. Though there’s no treatment yet, ongoing gene therapy trials offer hope. Remember to wear sunglasses outdoors, avoid cigarette smoke, and steer clear of high doses of vitamin A. #EyeHealth #PediatricOphthalmology #StargardtsDisease #VisionCare #StargardtsAwareness #MacularDegeneration #JuvenileVisionLoss #ColorVisionDeficiency #VisionLossSupport #PediatricEyeHealth For more in-depth information, read the full article here: https://lnkd.in/dExNuir5 For professionals, the Critical-Line™ LED Quantum Cabinet Kit is available HERE: https://lnkd.in/dUwsuKi9

Our Decoding Dravet blog is the perfect resource for staying up to date on research, foundation updates, and more. Our most recent research blog investigates PBA as a treatment for epilepsy. 4BP is an FDA-approved therapy for treatment of urea cycle disorders, and there is interest in its potential to address many genetic diseases. Studies are underway to understand its potential in alleviating symptoms and affecting molecular pathways. While it's premature to confirm PBA's benefits for patients with Dravet syndrome, progress in preclinical research offers hope. 💜 bit.ly/49LR9sU

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

15th Introductory Course in Genetic Counseling in Oncology in Lausanne