MD Genetic Clinic

🚨 Big News in Rare Disease Care! The FDA has officially approved chenodiol (CDCA) for the treatment of cerebrotendinous xanthomatosis (CTX)—a rare, progressive autosomal recessive metabolic disorder that affects the brain, eyes, tendons, and more. 🔬 Though CDCA has been used off-label for decades, this landmark approval is backed by the RESTORE trial and a growing body of scientific literature. 📉 Treatment showed statistically significant reductions in plasma cholestanol, a key biomarker of disease activity. 🧬 What is CTX? CTX is a bile acid synthesis disorder often missed until significant symptoms arise. Common signs and symptoms include: Chronic diarrhea (especially in childhood) Early cataracts Progressive intellectual decline or dementia Psychiatric symptoms Ataxia or balance issues Achilles tendon xanthomas Seizures 📞 At MD Genetic Clinic, we’re here to help: If you or a loved one has unexplained neurological symptoms, cataracts at a young age, or chronic GI issues, call us today. We offer genetic testing to confirm CTX and other rare metabolic conditions. Our clinic supports patients across the lifespan with expert guidance and precision diagnostics. 📚 Read the full regulatory announcement via JIMD: https://lnkd.in/ecb7nJgh Let’s raise awareness and help patients get the answers they deserve. We’re committed to early diagnosis, access to treatment, and long-term support. #RareDisease #CTX #FDA #MetabolicDisorders #DrugApproval #HealthPolicy #GeneticTesting #MDGeneticClinic #PrecisionMedicine #Neurogenetics 📸 [Image referenced from Medscape]

🇺🇸 Honoring Sacrifice & Supporting Strength 🇺🇸 This Memorial Day, MD Genetic Clinic pauses to honor the brave individuals who gave their lives in service to our country. We are deeply grateful for their sacrifice and the freedoms it protects. As we remember, we also raise awareness for those quietly battling rare and genetic diseases — often unseen, but no less courageous. Many military families and veterans are affected by inherited disorders, from muscular dystrophies to mitochondrial and metabolic conditions. Genetic awareness is more than a diagnosis — it’s a path toward answers, support, and personalized care. At MD Genetic Clinic, we’re committed to helping all individuals, of all ages, find clarity and care through genetic testing and counseling. 💙 Let’s remember. Let’s advocate. Let’s support those who serve — on and off the battlefield. #MemorialDay #GeneticsAwareness #RareDiseaseDay #MDGeneticClinic #HonorAndSupport #GeneticTesting #InvisibleIllness #VeteransHealth

As a reminder, April 15 is the last day to file your taxes or request an extension with the IRS. If you're not quite ready, filing an extension gives you until October 15 to submit your return—but remember, this is an extension to file, not to pay. Penalties and interest can still accrue on unpaid taxes. Quick Tip from the MD Genetic Team: Log into your IRS Online Account to double-check: All your W-2s, 1099s, and other tax forms Any estimated payments made Your refund status or balance due Make sure you’re not missing any reported income or deductions—it’s a small step that can prevent major issues later. Stay ahead and stay organized! — MD Genetic Clinic Team Rare Clinic for Rare Patients #TaxDay #April15 #TaxTips #IRSReminder #FileOrExtend #FinancialWellness #SmallBusinessTips #HealthcareProfessionals #MDGeneticClinic #TaxSeason #GeneticsAndFinance #StayOrganized #MDGeneticClinic #Genetics #RareDisease #Chromosomes #HealthcareProfessionals #Genomics #GeneticAwareness

Who Needs a Genetics Evaluation? Genetics is no longer just about rare diseases — it’s about personalized care and proactive health. Here are a few groups who may benefit from a genetics evaluation: -Individuals with a family history of genetic conditions -Children with developmental delays, autism, or congenital anomalies -Adults with early-onset cancers, cardiac issues, or neurological symptoms -Anyone with a personal or family history of unexplained medical issues -Couples planning a family who want carrier screening -Patients with multiple unexplained symptoms or syndromic features -Those seeking pharmacogenetic testing for tailored medication choices Genetic evaluations can provide diagnosis, clarity, and peace of mind, and often lead to better care and outcomes. ✨ #Genetics #PrecisionMedicine #HealthcareInnovation #RareDiseases #GenomicMedicine #MedicalGenetics #PersonalizedMedicine #ClinicalGenetics #GeneticCounseling #WomensHealth #MensHealth #ChildrensHealth #FamilyHealth #Cancergenetics

Healthcare providers treating Niemann-Pick type C (NPC) face significant challenges with the proposed requirement for documenting stabilization or improvement using the 4-domain NPC Clinical Severity Scale (R4DNPCCSS). NPC is a progressive disease, and treatment often aims to slow decline rather than achieve measurable improvement. Strict score-based recertification may lead to inappropriate denials, forcing clinicians to justify continued treatment for patients who still benefit despite minimal changes in their severity scores. Additionally, the R4DNPCCSS does not always capture subtle but meaningful clinical benefits, creating an administrative burden that detracts from patient care. A more flexible approach, such as provider attestation of clinical benefit, would better reflect real-world outcomes and ensure continued access to essential therapy. #NiemannPickTypeC #NPC #RareDisease #PatientAccess #KeepNPCPatientsCovered #ProgressiveDiseaseCare #NPCAdvocacy #HealthcareEquity #RareDiseasePolicy #MedicalNecessity #PatientFirst #ClinicalJudgmentMatters #AccessToTreatment #ProviderAttestation #RealWorldOutcomes #Miglustat #Zavesca #Arimoclomol https://lnkd.in/e6JDZTe2

Healthcare providers treating Niemann-Pick type C (NPC) face significant challenges with the proposed requirement for documenting stabilization or improvement using the 4-domain NPC Clinical Severity Scale (R4DNPCCSS). NPC is a progressive disease, and treatment often aims to slow decline rather than achieve measurable improvement. Strict score-based recertification may lead to inappropriate denials, forcing clinicians to justify continued treatment for patients who still benefit despite minimal changes in their severity scores. Additionally, the R4DNPCCSS does not always capture subtle but meaningful clinical benefits, creating an administrative burden that detracts from patient care. A more flexible approach, such as provider attestation of clinical benefit, would better reflect real-world outcomes and ensure continued access to essential therapy. #NiemannPickTypeC #NPC #RareDisease #PatientAccess #KeepNPCPatientsCovered #ProgressiveDiseaseCare #NPCAdvocacy #HealthcareEquity #RareDiseasePolicy #MedicalNecessity #PatientFirst #ClinicalJudgmentMatters #AccessToTreatment #ProviderAttestation #RealWorldOutcomes #Miglustat #Zavesca #Arimoclomol https://lnkd.in/e6JDZTe2

This article basically tells you that many people with rare muscle diseases struggle to get a diagnosis, which delays proper treatment. Since about 60% of rare disease patients remain undiagnosed, researchers tested a tool called Exomiser to help find genetic causes faster. They used it on 278 unsolved cases and found that it correctly ranked the right gene in 97% of known cases and even helped identify new potential disease genes. The tool works by matching genetic changes with symptoms and updates its findings as new research emerges. The takeaway? Exomiser could make genetic testing more efficient, helping doctors find answers faster for patients with rare muscle diseases. #Genetics #RareDisease #GeneticTesting #Exomiser #Myopathy #PrecisionMedicine #MolecularDiagnosis #MuscleDisease #GenomicMedicine #HealthcareInnovation #RareDiseaseAwareness #MedicalResearch #Neuromuscular