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checkrare.bsky.social
CheckRare
@checkrare.bsky.social
170 followers 410 following 82 posts
Rare diseases are our focus, expertise, and passion.
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checkrare.bsky.social
Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

checkrare.com/a-familys-ex...

#CheckRare #ALSP #RareNeurology #RareGenetic #Disease
June 12, 2025 at 2:37 PM
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checkrare.bsky.social
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
June 11, 2025 at 3:54 PM
checkrare.bsky.social
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
June 11, 2025 at 3:54 PM
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checkrare.bsky.social
💡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
June 11, 2025 at 3:53 PM
checkrare.bsky.social
💡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
June 11, 2025 at 3:53 PM
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checkrare.bsky.social
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
May 30, 2025 at 2:40 PM
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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
June 3, 2025 at 2:55 PM
checkrare.bsky.social
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
June 3, 2025 at 2:55 PM
checkrare.bsky.social
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
May 30, 2025 at 2:40 PM
checkrare.bsky.social
Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

checkrare.com/camp4-therap...

#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1
May 29, 2025 at 7:09 PM
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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
May 28, 2025 at 8:03 PM
checkrare.bsky.social
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
May 28, 2025 at 8:03 PM
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checkrare.bsky.social
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...
May 27, 2025 at 2:47 PM
checkrare.bsky.social
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...
May 27, 2025 at 2:47 PM
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checkrare.bsky.social
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
May 23, 2025 at 3:36 PM
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checkrare.bsky.social
CME: Fabry Disease Research Highlights

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

#CheckRare #CME #FabryDisease
May 23, 2025 at 3:37 PM
checkrare.bsky.social
CME: Fabry Disease Research Highlights

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

#CheckRare #CME #FabryDisease
May 23, 2025 at 3:37 PM
checkrare.bsky.social
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
May 23, 2025 at 3:36 PM
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checkrare.bsky.social
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
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.
checkrare.com
May 20, 2025 at 2:19 PM
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checkrare.bsky.social
💡Rare Disease Spotlight: IgG4-RD

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

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin
May 20, 2025 at 2:20 PM
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checkrare.bsky.social
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
May 21, 2025 at 2:34 PM
checkrare.bsky.social
Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities.

checkrare.com/mental-healt...

#CheckRare #RareDisease #MentalHealth
May 23, 2025 at 1:08 AM
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pbsnews.org
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
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…
buff.ly
May 21, 2025 at 8:10 PM
checkrare.bsky.social
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
May 21, 2025 at 2:34 PM
checkrare.bsky.social
💡Rare Disease Spotlight: IgG4-RD

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

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin
May 20, 2025 at 2:20 PM