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Now Available: San Diego Weekend Schedule

We are excited to share some advanced details about Alport Connect 2023 programming for Adults and Teens. More information about our Kids Program will be coming soon.

SATURDAY, OCTOBER 7th – A Full Day of Learning Together!

  • 8:30 AM – 5:30 PM PT at the University of San Diego.
  • Free ticket reservation is required for admission.
  • Light breakfast, lunch, and afternoon snacks provided.
  • Separate programming for Adults, Teens, and Kids.

Adult Program topics include: Advances in Research, Medication Management, Renal Diet, Expert and Patient Panels with Q&A, and more! Click here for the detailed Adult agenda.

Teen Program topics include: Diet & Nutrition, Emotional Health, Young Adult Patient Panel, Interactive Projects, and more. Click here for the detailed Teen agenda.

SUNDAY, OCTOBER 8th – Time to Relax and Connect!

This free, non-ticketed portion of the weekend is open to all ages and takes place at a local beach from 9:00 AM – 12:00 PM Pacific Time. You’ll have the opportunity to hang out with other Alport families, play beach games or cheer others on, and win prizes! Light breakfast snacks provided.

Highlights from the International Podocyte Conference

Last month in Philadelphia, ASF was represented at the 14th Biennial International Podocyte Conference by Executive Director Lisa Bonebrake and volunteer Research Director André Weinstock.

Podocytes are a critical cellular component to the kidney’s filtration barrier. Their injury plays a role in disease progression. Approximately 350 attendees spent four days focused on learning and sharing from research being conducted around the globe. For the first time, Dr. Jeffrey Miner publicly presented his findings from ASF-funded research on CRISPR/Cas9 therapy approaches in Alport syndrome and projected timing of effective treatment to repair genetic mutations. Other leading international Alport researchers gave presentations as well. Click here to read a summary of ASF’s key takeaways from this event.

Click here to read the winning podocyte-focused haiku poems that researchers submitted in advance of the conference, with rare kidney disease patients serving as the panel of judges.

Featured in photo left to right:

Researchers Drs. Laura Perin, Alessia Fornoni, Rachel Lennon, André Weinstock, and Jeffrey Miner.

New Data Published on Pediatric Alport Patients

In a recently published article in Pediatric Nephrology, Dr. Michelle Rheault (of ASF’s Medical Advisory Committee) and colleagues share data on COL4A gene variants in children with chronic kidney disease.

The article reports on 213 genetically-confirmed pediatric Alport syndrome patients. The key findings shed light on:

  • the number of patients who experienced an incorrect diagnosis prior to a genetically-confirmed diagnosis
  • the proportion of patients with X-linked, autosomal recessive, and autosomal dominant Alport syndrome
  • family history of kidney disease as a predictive factor when diagnosing a child
  • a snapshot of proteinuria (protein in blood), hematuria (blood in urine), hearing impairment, gender disparity, and other important metrics

Genetic data was compiled from Invitae’s former KIDNEYCODE program, a screening tool that helped hundreds of individuals of all ages confirm their suspected Alport syndrome diagnosis.

The article notes that a relatively high amount of hematuria was shown to have the greatest correlation to a positive genetic diagnosis of a monogenic disease such as Alport syndrome.

The authors conclude these findings demonstrate the importance of early urine testing and genetic screening in the general pediatric population.

Join Us: Alport Patient Care Away from Home

Tuesday, July 18, 2023

Alport Patient Care Away from Home

5:00pm Pacific / 6:00pm Mountain / 7:00pm Central / 8:00pm Eastern

Click here to register.

Discuss your experiences, ask questions, and hear from others during this 60-minute conversation where we’ll share tips for staying healthy while traveling this summer (and beyond!).

To encourage open conversation, Direct Connect events are live and not recorded. Direct Connect meetings are specifically for patients and family members ages 18+.

Your Asked for It: ASF Merchandise

You asked. We listened! We’re proud to offer a selection of branded merchandise so you can look fashionable while spreading Alport awareness. As an added bonus, a small portion of your purchase directly supports ASF.

ASF’s new, official apparel website offers a youth tee, adult unisex tee, and women’s slim fit tee in a variety of color choices. We also offer an adult pullover hoodie. Sizes fit as expected, EXCEPT the women’s slim fit tee. When adding this specific item to your cart, patrons are advised to order two sizes up.

Bonfire prints our official merchandise on demand and ships domestically (including U.S. territories) and internationally. Based on patient feedback of sample orders, we’re confident you’ll be pleased with the quality of these items.

Stay tuned — we plan on adding new items to our store later this year!

Thank you to our Alport Connect 2023 sponsors:

View our Newsletters and Announcements page for an archive of prior communications.