HLRCC Foundation

04/06/2026

Suffolk University biochemistry students, led by Professor Melanie Berkmen, research fumarase deficiency, a rare and often fatal disease.

Suffolk biochemistry students help parents gain information about their child’s genetic condition

08/20/2025

A new study by Zhang et al., tested a novel treatment for HLRCC using a combination of two drugs, a programmed cell death 1 protein (PD-1) inhibitor (sintilimab) and a vascular endothelial growth factor receptor–targeted tyrosine kinase inhibitor (VEGFR-TKI; axitinib). This treatment worked well for over half of patients keeping the cancer under control for a median of nearly 20 months. Side effects were mostly mild and manageable, suggesting this combination is a promising new option.

This nonrandomized clinical trial evaluates the efficacy and safety of sintilimab plus axitinib for treatment of advanced fumarate hydratase–deficient renal cell carcinoma.

08/05/2025

HLRCC related tumours lack the enzyme fumarate hydratase (FH) and act very differently at the molecular level compared to other (more common) kidney cancers (RCC). Understanding the special traits of these cancers is critical for accurate diagnosis.

This newly published review article provides details of a study where researchers found different molecular subgroups within FH‑deficient RCC, each with its own potential vulnerabilities that could provide new drug targets.

Armed with this new understanding, the researchers suggest it may be possible to tailor treatments to individual molecular signatures of FH-deficient tumours—which might improve outcomes for patients with HLRCC.

New research has provided a comprehensive molecular understanding of fumarate hydratase-deficient renal cell carcinoma, showing distinct molecular divergence from other renal tumour subtypes. These molecular findings have implications for precision oncology for patients with this rare disease.

07/27/2025

04/04/2025

01/24/2025

Unfortunately POTUS Trump has frozen Cancer Research at the NIH. Even a day in a freeze can do a lot of damage. I am sorry for all of us.

01/15/2025

Here’s an opportunity for any of us from the US as we will be meeting with our elected officials.

https://everylifefoundation.org/rare-advocates/rare-disease-week/?fbclid=IwZXh0bgNhZW0CMTEAAR1kVy7xvoByt3yXugnWusBkWeQdfj2RTQ7kMQLk-RdVxDzmg07iR2h3Sd4_aem_5rNLE7JACU9hMrdmNrohhg

The EveryLife Foundation has met all of the requirements for Charity Navigator, has met all of the requirements of the National Health Council Standards of Excellence Certification Program®, and has earned the Guidestar Platinum Seal of Transparency.

10/10/2023

Good news for us! I honestly have not even read this but I have been following the development of Histotripsy for years now.

https://lm.facebook.com/l.php?u=https://www.businesswire.com/news/home/20231009669222/en/FDA-Awards-HistoSonics-Clearance-of-its-First-of-a-Kind-Edison%C2%AE-Histotripsy-System?fbclid%3DIwAR0Ia3oqqhgpvT5sVObPxupIGtTBjaF71E30E3xs6xNzzseEzHILDfSwESg_aem_AZ8ZeACkwPLbhdMhmd2e6tGcZO5wKLaxHoWje3nffGqJXrq-52p5BpAc7fhmk-hNXPo&h=AT1byjRmX5LV74IvJJxVYdnDQX3xdaG4V6HEgJE5P6AYC_7GDlzMpEa9CY8TB6qPoud61iCtQ9lev5IZwWqibkuzijzwiqsVDwS5UPpr8QoX0t1KGpOfGgdrFY_zt2Kw1wtqSDf2z_cy&s=1&mibextid=ncKXMA

HistoSonics®, (www.histosonics.com), the manufacturer of the Edison® System and novel histotripsy therapy platforms, announced today the marketing aut

09/29/2023

Some of us with HLRCC get this type of tumor too. They can be hard to find also.

WEDNESDAY!!

Have you had your pheo removed, but still don't feel "right?" Dr. Hans Ghayee joins us on October 4th at 9 AM Pacific/12 PM Eastern to discuss why this might be happening. Don't miss this must-see webinar -- register now to submit your questions and get the link to join the live stream!

https://bit.ly/3RfYCus

08/14/2023

Please read you may help yourself or someone you love.

Imagine visiting your doctor and having them tell you they have never seen symptoms like yours in their entire medical career. For thousands of Americans, this is their everyday reality.

07/21/2023

Intersting article about potential new treatments for HLRCC

"We are hoping this is something that we can repurpose quickly for those affected by these variants,” says Heather Christofk, PhD.