Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

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#CheckRare #ALSP #RareNeurology #RareGenetic #Disease

Genetic Testing for WHIM Syndrome: reducing barriers, proper panel analysis, and how to deal with variants of uncertain significance.

Learn more at checkrare.com/genetic-test...

#CheckRare #WHIMSyndrome #RareGenetic #RareAutoimmune #RareSkin

💡Rare Disease Spotlight: SYNGAP1-Related Disorders

Learn more about this rare disease with our latest article checkrare.com/the-current-...

#CheckRare #RareDisease #SYNGAP1 #RareNeurology #RareGenetic

FDA Approves Treatment for Pheochromocytoma or Paraganglioma The U.S. FDA has approved belzutifan for patients with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.

The U.S. FDA approved Welireg (belzutifan) for patients ages 12 years and older with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.

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#CheckRare #FDAApproval #RareGenetic

New Educational Program: published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis (PFIC) and why the new guidance recommends the early use of IBAT inhibitors.

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#CheckRare #PFIC #RareGenetic

Learn more about the newly approved treatment for hyperphagia in patients with Prader-Willi syndrome with Dr. Ashley Shoemaker.

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#CheckRare #RareDisease #FDAApproval #PraderWilliSyndrome #RareGenetic

Aravindhan Veerapandiyan, MD, discusses results from the phase 1/2 EXPLORE44 clinical trial for Duchenne muscular dystrophy (DMD).

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#CheckRare #RareMusculoskeletal #RareNeurology #RareGenetic #DMD #Duchenne #RareDisease

Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver.

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#CheckRare #PraderWilliSyndrome #RareGenetic #RareEndocrine

Consider Rare: Suspecting and Diagnosing Hereditary Angioedema Describing the early symptoms and best practices to diagnose HAE more efficiently to reduce diagnostic delays.

Consider Rare.

Jonathan A Bernstein, MD, describes early symptoms of HAE, its clinical relevance,
and best practices to diagnose HAE more efficiently to reduce diagnostic delays.

checkrare.com/learning/p-c...

#CheckRare #HAE #RareGenetic #RareDisease

Sibling Study Dramatically Illustrates the Efficacy of Gene Therapy for Metachromatic Leukodystrophy Karen Bean discusses a recent study comparing the effect of gene therapy in treated versus untreated sibling pairs with early-onset MLD.

Karen Bean, Health Economist at Orchard Therapeutics, discusses a recent study comparing the effect of gene therapy in treated versus untreated sibling pairs with early-onset metachromatic leukodystrophy (MLD).

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#CheckRare #MLD #RareGenetic #RareMetabolic

💡Rare Disease Spotlight: Congenital Adrenal Hyperplasia

Learn more about this rare disease with our latest article checkrare.com/fda-approval...

#CheckRare #RareDisease #CAH #RareGenetic

FDA Approval: The U.S. Food and Drug Administration has approved Gomekli (mirdametinib) for the treatment of adult and pediatric patients with neurofibromatosis type 1-associated plexiform neurofibromas.

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#CheckRare #FDAApproval #RareGenetic

Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies and discuss improving health equity in HAE.

Clinical research leaders in HAE provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

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#CheckRare #RareDisease #RareGenetic

EMA Pathway to Approval for Mavorixafor to Treat Patients with WHIM Syndrome Paula Ragan, X4 Pharmaceuticals, discusses the pathway of approval under the EMA for mavorixafor for patients with WHIM syndrome.

Paula Ragan, President and Chief Executive Officer of X4 Pharmaceuticals, discusses the pathway of approval under the European Medicines Agency (EMA) for mavorixafor for patients with WHIM syndrome.

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#CheckRare #RareDisease #RareGenetic #RareSkin

Jean Donadieu, MD, Service d’Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome.

Jean Donadieu, MD, Service d’Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome.

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#CheckRare #RareDisease #RareGenetic #RareSkin #WHIM