CheckRare

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

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

💡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

David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis.

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#CheckRare #RareLung #IPH

The U.S. Food and Drug Administration has recently approved the following treatments.

Stay up to date with new rare disease treatments approvals at checkrare.com/2025-orphan-...

#CheckRare #FDAApproval #RareDisease

The U.S. Food and Drug Administration has recently approved the following treatments.

Stay up to date with new rare disease treatments approvals at checkrare.com/2025-orphan-...

#CheckRare #FDAApproval #RareDisease

David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis.

checkrare.com/a-patients-d...

#CheckRare #RareLung #IPH

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

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#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1

Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses the diversity of patient advocacy group initiatives.

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#CheckRare #PatientAdvocacy #RareDiseases

Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses the diversity of patient advocacy group initiatives.

checkrare.com/the-diversit...

#CheckRare #PatientAdvocacy #RareDiseases

Professor Luis Masana provides a high-level overview of the following publication: Lomitapide for the Treatment of Paediatric Patients With Homozygous Familial Hypercholesterolaemia (APH-19): Results From the Efficacy Phase of an Open-Label, Multicentre, Phase 3 Study.
checkrare.com/lomitapide-f...

Professor Luis Masana provides a high-level overview of the following publication: Lomitapide for the Treatment of Paediatric Patients With Homozygous Familial Hypercholesterolaemia (APH-19): Results From the Efficacy Phase of an Open-Label, Multicentre, Phase 3 Study.
checkrare.com/lomitapide-f...

Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market.

checkrare.com/navigating-t...

#CheckRare #RareDisease #OrphanDrug

CME: Fabry Disease Research Highlights

Learn more at checkrare.com/learning/p-f...

#CheckRare #CME #FabryDisease

CME: Fabry Disease Research Highlights

Learn more at checkrare.com/learning/p-f...

#CheckRare #CME #FabryDisease

Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market.

checkrare.com/navigating-t...

#CheckRare #RareDisease #OrphanDrug

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.

checkrare.com/fda-approves...

#CheckRare #FDAApproval #RareGenetic

💡Rare Disease Spotlight: IgG4-RD

Learn more about this rare disease with our latest article checkrare.com/newly-approv...

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.

checkrare.com/urea-cycle-d...

#CheckRare #RareDisease #UCD #RareMetabolic

Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities.

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#CheckRare #RareDisease #MentalHealth

Breakthrough gene editing treatment helps child born with rare disorder Doctors announced this week that they have treated a newborn baby with a rare genetic disease using the world’s first personalized gene editing therapy. Geoff Bennett discussed the treatment and its…

Doctors announced this month that they have treated a newborn baby with a rare genetic disease using the world’s first personalized gene editing therapy. buff.ly/jqxjN6p

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.

checkrare.com/urea-cycle-d...

#CheckRare #RareDisease #UCD #RareMetabolic

💡Rare Disease Spotlight: IgG4-RD

Learn more about this rare disease with our latest article checkrare.com/newly-approv...

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin

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.

checkrare.com/fda-approves...

#CheckRare #FDAApproval #RareGenetic

Global Genes’ Patient and Advocate Initiatives Daniel DeFabio, Global Genes and rare disease father, discusses Global Genes’ patient and advocate initiatives.

Daniel DeFabio, Director of Community Engagement and Education at Global Genes, Co-Founder of Disorder: The Rare Disease Film Festival, and rare disease father, discusses Global Genes’ patient and advocate initiatives.

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#CheckRare #RareDisease #Advocacy

Sonia Gobeil, co-founder of Ataxia of Charlevoix-Saguenay Foundation, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

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#CheckRare #RareNeurology #RareMusculoskeletal #ARSACS

Norman Putzki, MD, Global Development Head of Neuroscience and Gene Therapy at Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for spinal muscular atrophy (SMA).

checkrare.com/positive-saf...

#CheckRare #SMA #RareNeurology #RareMusculoskeletal

Norman Putzki, MD, Global Development Head of Neuroscience and Gene Therapy at Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for spinal muscular atrophy (SMA).

checkrare.com/positive-saf...

#CheckRare #SMA #RareNeurology #RareMusculoskeletal