Duke Hypophosphatasia Clinical and Research Program

01/25/2023

Rare Disease Day is just over a month away! NORD is providing an opportunity for patients to share their stories. Click the link to submit your rare disease story:
https://rarediseases.org/rare-disease-day/rare-disease-day-share-your-story/

NORD invites you to share your story. Join the individuals and families who have contributed their personal accounts of living with rare diseases. Alone we are rare. Together we are strong!

07/15/2022

Dr. Kishnani and several members of the Duke team are attending the Southeastern Regional Genetics and Genomics (SERGG) annual meeting in Asheville, NC this week! We are so excited to be attending in-person events again to learn about the latest updates in medical genetics care and research in our region.

02/28/2022

The Duke team recognizes today! Each year, on the last day of February, there is a worldwide day of recognition for individuals living with rare diseases. While most genetic diseases are individually rare, millions of people worldwide are impacted by a rare genetic disease. We today and every day! How are you recognizing Rare Disease Day this year? Check out https://www.rarediseaseday.org/ for more information.

04/20/2021

Has a genetic counselor made a difference in your diagnostic or medical journey? Consider nominating them for this award and telling your story.

A genetic counselor with a heart can make all the difference. Nominate a genetic counselor who made an impact on you or a family member for the Heart of Genetic Counseling Award. https://invit.ae/317jSqZ

03/09/2021

Women's History Month and International Women's Day on March 8 are opportunities to celebrate all of the incredible women who are expanding the boundaries of what’s possible to achieve in healthcare, research, education and community health. This week, we highlight Priya Kishnani, MBBS, who became involved in designing the first clinical trials for a new treatment of Pompe disease, a rare disease affecting the heart and muscles. She has dedicated her career to advancing the treatment of Pompe globally and is a world-renowned expert in designing clinical trials for treatments of rare diseases. https://bit.ly/3bteEM0

03/02/2021

The Duke Team celebrated Rare Disease Day over the weekend - how did you and your family celebrate or raise awareness?

03/01/2021

02/15/2021

Duke Spotlight takes a look at Duke physician-scientist and critical care pediatrician Dr. Kanecia Zimmerman’s long history of answering difficult research questions about how to keep kids healthy, and her most recent work with the ABC Science Collaborative with co-founder and infectious diseases specialist, Dr. Daniel Benjamin.

https://pediatrics.duke.edu/news/abcs-keeping-kids-healthy

Have you ever wondered how physicians determine the amount of medication that is safe and most ef

01/26/2021

At our next Community Connections event, a panel of Duke Health experts will discuss important COVID-19 vaccine developments for our Spanish-speaking patients and community members. The event will be entirely in Spanish. Join us on Tuesday, Feb. 2 at 4:30 p.m. Register at bit.ly/conexionescomunitarias

12/23/2020

Happy Holidays from the Duke team!

Even though we are not able to get together in person, our team has enjoyed a few virtual events, including an Indian cooking session by Dr. Kishnani and a Division trivia night, over the past few weeks! We hope you have a safe and happy holiday season!

12/21/2020

Our Emergency Medicine providers are excited to get their COVID-19 vaccinations, as we continue to roll out the vaccine to our frontline healthcare workers. There is more work to be done, but we are so happy to see the light at the end of the tunnel.
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12/15/2020

Good news this Monday — Duke Health received its first shipment of the Pfizer-BioNTech COVID-19 vaccine. Retired nurse Faye Williams — who volunteered to return to Duke University Hospital at the start of the pandemic — was the first person in the Triangle to receive the vaccination.

“We are proud of our team members for living our values and taking one more step to protect our patients, their loved ones, and each other. While we are grateful to start administering safe and effective vaccines, we know that there is still a long road ahead of us. With record cases of COVID-19 currently in our community, we must all commit to reducing the spread of infection." — Thomas Owens, MD, president of Duke University Hospital

11/02/2020

Multimillion dollar NIH grant creates first Duke Center of Excellence in Genome Science

A great collaboration between Duke Medical Genetics and other Duke researchers to use current technologies focus on a particular gene regulatory element or individual mutation and ask what the effect is individually.

This will help us understand gene regulatory elements in many of the diseases we study.

https://pediatrics.duke.edu/news/multimillion-dollar-nih-grant-creates-first-duke-center-excellence-genome-science

10/30/2020

Happy Halloween from Duke Medical Genetics!

10/13/2020

Join Soft Bones Inc. along with wellness expert and renowned psychologist Dr. Jen Hartstein on World HPP Day, October 30. This no-cost educational webinar will provide self-care strategies and wellness information that is beneficial to everyone in the HPP Community. Dr. Jen has been featured on numerous nationwide television news programs and online media outlets. Don't miss the opportunity to hear her live!

U.S. patients and caregivers are also invited to participate in a regional breakout chat session immediately following the webinar. Registration is open to all. Sign up today by visiting: https://bit.ly/HPPWellnessWebinar

08/25/2020

Caregivers round table by NORD

08/20/2020

Calling all artists!

07/28/2020

At Duke Health, we are proud of our physicians, nurses and staff who have once again been recognized among the top hospitals in the nation and the best in North Carolina by U.S. News & World Report. We are grateful for their passion and commitment to caring for our patients and for all the communities we serve.