Shop Now to Donate This Holiday Season!

Shop Now to Donate This Holiday Season!

You Shop, Amazon Donates!

Are you holiday shopping on Amazon.com this year? Make sure your account is set to support the OI Foundation!

When you shop using AmazonSmile, you’ll find the exact same low prices and convenient shopping experience as Amazon.com, with the added benefit that AmazonSmile will donate to the OI Foundation.

Shop in the Amazon app! Simply follow these instructions to turn on AmazonSmile and start generating donations for the OI Foundation:

  1. Open the Amazon Shopping app on your device
  2. Go into the main menu of the Amazon Shopping app and tap into ‘Settings’
  3. Tap ‘AmazonSmile’ and follow the on-screen instructions to complete the process

Click here to start shopping at smile.amazon.com/ch/23-7076021


Shop NEW OIF Merchandise!

This Week Only! Shoppers who spend $50 on OIF merchandise will receive a complimentary OIF Snowflake Ornament.

(This includes items from Bonfire.com and the oif.org/shop page!) Stock up on Unbreakable Spirit® Hats, T-shirts, an OIF Water Bottle, Unbreakable Spirit® Tote Bag, and more. These items make the perfect stocking stuffers!

Click here to shop now!

Cooking & Conversation

Join the OIF this holiday season for a two-part food, cooking, nutrition and health series with Culinary Nutritionist + Author of What The Fork Are You Eating, Stefanie Sacks, MS, CNS, CDN!

🍽️Part 1: December 2nd, 7pm ET

Education Around the Table (EAT) is an opportunity to address your food lifestyle related questions and concerns. So bring your thoughts to the table because nothing is off-limits! Register for Part 1 now at www.oif.org/event/educationaroundthetable.

🍽️Part 2: December 6th, 7pm ET

Edible Invitation: Clean Cooking, Clean Eating Stefanie will lead a cooking demo and dialogue with OI community member Susie Wilson as her cooking partner! Stefanie will explore adaptable culinary techniques, one-pot meals, food storage ideas and so much more. All skill sets are welcome from beginners to self-proclaimed master chefs! Register for Part 2 now at www.oif.org/event/edibleinvitation. Recipe can be found here.

COVID-19 Vaccine Update Virtual Session

OIF Virtual Session: COVID-19 Vaccine Update

On November 17, 2021, Dr. Robert Sandhaus (pulmonologist and OIF Medical Advisory Council member) was joined by Admiral Rachel Levine, MD (Assistant Secretary of Health, US Department of Health and Human Services) to share COVID-19 vaccination news and guidelines for people with osteogenesis imperfecta. Watch the recording of this session at https://youtu.be/ytKvoElnbwY.

More OI Foundation resources can be found in the COVID-19 Toolkit.

 


 

Consortium Spotlight: BBDC

This month, the Brittle Bone Disorders Consortium was featured as the Consortium Spotlight by the Rare Diseases Clinical Research Network.

The Brittle Bone Disorders Consortium is part of the National Institutes of Health Rare Diseases Clinical Research Network. It is a multi-center program that focuses on understanding and providing better treatment options for all types of osteogenesis imperfecta (OI).

Consortium Spotlight: Advancing Discoveries in Brittle Bone Disorders:

The Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. The goal is to develop new and better treatments for patients with OI. Here, principal investigator Brendan Lee, MD, PhD, and Vernon Sutton, MD, share the history of the consortium, current research, and future plans.
Click here to read more.


Early-Stage Investigator Spotlight: Chaya Nautiyal Murali Gets Creative with Osteogenesis Imperfecta Research:

Chaya Nautiyal Murali, MD, is a pediatric geneticist at Baylor College of Medicine and a member of the Brittle Bone Disorders Consortium (BBDC). She is also an accomplished essayist, using her creative writing skills to highlight themes of identity, inheritance, and family through the lenses of immigration and genetics. Here, she shares her start in rare disease research, exciting discoveries, and future goals.
Click here to read more.


Patient Spotlight: Fynan Family Fueled by OI Research

Michelle Fynan, PhD, LMHC, is a mother of two daughters, age seven and four. She and her daughters are diagnosed with osteogenesis imperfecta (OI) type I, the mildest form of OI, which is characterized by bone fractures that often result from minor trauma. Here, Michelle shares her journey with OI, from adolescent struggles to finding her purpose as an OI activist and researcher.
Click here to read more.


Patient Advocate Spotlight: Tracy Hart Fosters Connections to Help Patients with Osteogenesis Imperfecta

Tracy Hart, chief executive officer of the Osteogenesis Imperfecta Foundation, serves as chair of the RDCRN’s Coalition of Patient Advocacy Groups.
Click here to read more.

 


 

OIF E-Newsletter: November 2021

The OIF’s November E-Newsletter is here!

Read about upcoming virtual events for OI community members, current OI research studies, the OIF Conference survey, and supporting the OIF this holiday season at https://mailchi.mp/oif/november2021!

CLICK HERE TO READ THIS ISSUE

To subscribe to emails from the OI Foundation, please visit www.oif.org/newsletter.


 

Celebrate #GivingTuesday with the OI Foundation!

How will YOU make an impact on #GivingTuesday?


1. MAKE A GIFT! 

Make a donation to the OI Foundation in honor or memory of a loved one.
Click here to make a gift to the OIF.

2. GET ON FACEBOOK! 

Facebook will match $8 million of Facebook donations TODAY in honor of Giving Tuesday! Double your impact by creating your own Facebook fundraiser for the OI Foundation and inviting your friends and family to celebrate the National Day of Giving with the OI community!
Click here to create your own Facebook fundraiser.

3. SHARE YOUR OI STORY! 

One way to raise OI awareness in your community is to share your OI story.
Gemma’s Corner (created in memory of OIF Founder Gemma Geisman) is a place for OI community members to share their stories. For more information, or to share your story, please contact Jessica at jransome@oif.org.
Click here to listen to the stories of OI community members in Gemma’s Corner.

4. SHOP NEW OIF APPAREL! 

Snag NEW OIF apparel from the OIF’s online store! Items include Unbreakable Spirit® Hats, T-shirts, an OIF Water Bottle, Unbreakable Spirit® Tote Bag, and more!
TODAY ONLY! Shoppers who spend $50 on OIF merchandise will receive a complimentary OIF Snowflake Ornament.
Click here to start shopping.

5. TELL EVERYONE! 

Encourage others to support the OI community on #GivingTuesday!

Meet OIF Michael Geisman Fellow: Dr. Francesca Tonelli

Meet Dr. Francesca Tonelli, OIF Michael Geisman Fellow

By: Gabriela Beug, OIF Science and Media Communications Intern

As osteogenesis imperfecta is a rare bone disease, research grants remain difficult to acquire worldwide. The Osteogenesis Imperfecta Foundation makes research a priority through the Michael Geisman Fellowship program (created in memory of Michael Geisman, son of OI Foundation founder Gemma Geisman), which funds post-doctoral trainees whose research aims to predict, prevent, diagnose, and treat osteogenesis imperfecta (OI).

With the support of the Michael Geisman Fellowship program, awardees work to develop new approaches for therapies targeting OI. In the developmental stages, therapies are first tested on animal models (i.e. mice, zebrafish) before passing the requirements to move on to clinical trials. Studying diseases requires organisms with the same morphological and biochemical properties as well as a similar genome to humans. Both mice and zebrafish have a high level of genetic conservation – meaning a large part of their genome is identical to humans. While in zebrafish this number is around 70%, in mice it averages around 85%.  Mice and zebrafish offer an alternative to relying on human samples to test hypotheses, especially for rare bone disease where access to samples is limited.


The OI Foundation is proud to support Dr. Francesca Tonelli of University of Pavia in Pavia, Italy.

“I believe it is a unique experience to study a rare disease and I wish every scientist could have this opportunity at some point in their career. Even if I enjoy the individual aspects of lab work like creating animal models, the research in the OI field makes me feel like I will support other people and it is personally very rewarding. It’s the interaction with an individual with OI  and  the hope of finding a cure for them that make me passionate and persistent in testing new hypotheses until we can develop a cure.” Dr. Francesca Tonelli

Francesca Tonelli obtained her bachelor’s degree in medical and pharmaceutical biotechnology from the University of Pavia in Pavia, Italy in 2012 and continued in the same field, completing her master’s degree in 2014. Her journey with osteogenesis imperfecta began by characterizing the dominant OI zebrafish model Chihuahua, which at the time was a new model for studying osteogenesis imperfecta. During her PhD she generated several new recessive OI zebrafish models by CRISPR Cas9 gene editing technique. In 2017, Tonelli received her Ph.D. in biomedical sciences under Dr. Antonella Forlino’s supervision. Continuing under her mentorship for her postdoctoral training, she is now applying her training to research in osteogenesis imperfecta. In her free time, Dr. Tonelli likes to read, kickbox, or scuba dive.

Areas of Expertise

  • Crispr-Cas9 gene editing
  • Designing, cloning, transcribing CRISPR constructs
  • Generating zebrafish models to investigate skeletal diseases
  • Drug screening: 4-PBA

It is well established that cellular stress is one of the main factors contributing to the osteogenesis imperfecta disease, which disrupts the homeostasis (the “well-being” of cells), leading to protein misfolding. The novel finding of Dr. Tonelli led to identifying chemical compounds such as 4-phenylbutyrate (4-PBA), a drug approved for urea cycle disorders whose beneficial chaperone activity also aids in ameliorating the bone phenotype of OI in the dominant and the recessive zebrafish model.

Her research now focuses on the study of bone formation, thanks to the zebrafish’s ability to regenerate the caudal fin. Caudal fin regeneration essentially mimics the dermal bone formation process similarly as it would occur during the human bone growth. Caudal fin regeneration can be exploited also to test the effect of new potential drugs.

Although 4-PBA has been identified as a potential therapeutic target, steps remain to transition from the lab to the translation in patients. Dr. Tonelli’s next step is to test a chemically modified version of 4-PBA, which would increase drug stability, specifically targeting bone tissue, making it more friendly for clinical trials in the future.

Selected Publications:

  • Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders. Tonelli F, Bek JW, Besio R, De Clercq A, Leoni L, Salmon P, Coucke PJ, Willaert A, Forlino A. Front Endocrinol 2020 doi: 10.3389/fendo.2020.00489
  • Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia. Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. J Bone Miner Res 2020 doi: 10.1002/jbmr.4177
  • Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype. Tonelli F, Cotti S, Leoni L, Besio R, Gioia R, Marchese L, Giorgetti S, Gistelinck C, Wagener R, Kobbe B, Larionova D, Fiedler I.A.K., Busse B, Eyre D, Rossi A, Witten PE, Forlino A. Matrix Biology 2020, (90): 40-60. doi: 10.1016/j.matbio.2020.03.004
  • Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
    Besio R, Chow CW, Tonelli F, Marini JC, Forlino A. FEBS J. 2019, (15):3033-3056. doi: 10.1111/febs.14963.
  • Steady-State and Pulse-Chase Analyses of Fibrillar Collagen. Forlino A, Tonelli F, Besio R. Methods Mol Biol. 2019;(1952):45-53. doi: 10.1007/978-1-4939-9133-4_4.
  • Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A. Sci Rep. 2016, (6):21540.
  • The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. Gioia R.*, Tonelli F.*, Ceppi I., Biggiogera M., Leikin S., Fisher S., Tenedini E., Yorgan T.A., Schinke T., Tian K., Schwartz J.M., Forte F., Wagener R., Villani S., Rossi A. and Forlino A. Hum Mol Genet 2017, (26):2897-2911. * first co-authors

OI Wellbeing Study – Now Recruiting

Are you or your child living with OI? Are you a caregiver or clinician who cares for someone with OI?

In partnership with the OIF, researchers at Baylor College of Medicine are conducting a study to better understand the mental health and pain experiences of the OI community. You will have the opportunity to share your individual experiences and discuss what you think could be improved for people living with OI. Your feedback will inform future research in this area.

For this first phase of the study, the study team aims to recruit 50 families, though larger studies will follow. Taking part in the study includes participating in an approximately one-hour online interview and the completion of a questionnaire, for which you will be compensated $50.

If you or your child are interested in participating in the study, please fill out the survey at the following link: https://bit.ly/OIWellbeing

For any other inquiries about the study, please contact the study team at OIWellbeing@bcm.edu or (713) 798-8563 for more information.

BCM IRB Approval: H-49741

OIF Research Update: Mental Health and OI

Thursday, November 18, 2021   |   6:00 PM

Join the OIF for a discussion with Brittle Bone Disorders Consortium (BBDC) researchers as they discuss new research on mental health concerns for people with OI. This session will feature Dr. Reid Sutton, Geneticist at Baylor College of Medicine and OIF Medical Advisory Council member, and Dr. Eric Storch, Vice-Chair and Head of Psychology at Baylor College of Medicine. They will share their experience working with the OI community, outline the new study the BBDC is undertaking around mental health, and explain what they hope to learn.

This session is the fourth in a series meant to demystify and contextualize medical research from the Brittle Bone Disorders Consortium (BBDC). The BBDC is a multicenter initiative that focuses on understanding and providing better treatment options for osteogenesis imperfecta. The previous BBDC research updates can be viewed here

As a partner of the OIF, the BBDC has 3 major goals:

  1. Gain a better understanding of all genetic forms of OI
  2. Expand treatment options for those with OI
  3. Help guide the next generation of physicians and scientists.

This series is intended for anyone who wants to learn more about OI medical research. We hope you will attend a future session!

Complete the OIF Conference Survey

Should the OIF hold an in-person Conference in July?

The OIF is still evaluating the possibility of holding an in-person 2022 National Conference in Orlando, Florida, and would like to hear if you would attend in-person. The safety and comfort of our community is very important to us, and your input helps us make the best planning decisions.

Please take a moment to complete the OIF’s Conference Survey at https://www.surveymonkey.com/r/Y8332ZT