617-963-0900 Director@NERGG.com

Sanofi Genzyme presents: It’s not what you think…..diagnosing acid sphingomyelinase deficiency (ASMD) – June 30, 2021

What’s behind your patient’s unexplained multisystem abnormalities?

Please join us to learn more about the path to diagnosing Acid Sphingomyelinase
Deficiency (ASMD). ASMD is a progressive, multisystemic genetic disease that impacts
both children and adults and is historically known as Niemann-Pick disease (NPD) types
A, A/B, and B. You can attend this special presentation for healthcare professionals from
the convenience of your computer or any device with an internet connection.

Carlos Prada, MD of Cincinnati Children’s Hospital Medical Center

June 30, 2021 12:15 PM ET

To register, click here.

For more information, jenna.dickinson2@sanofi.com

Invitation - ASMD Speaker program invite_It's Not What You Think.6.30.2021

SIMD NAMA North American Metabolic Academy – Registration open until August 1, 2021

Society for Inherited Metabolic Disease North American Metabolic Academy (SIMD NAMA) – Registration open from now until August 1, 2021

The 2021 North American Metabolic Academy will be held September 26 – October 2, 2021 at Lanier Islands Legacy Lodge in Buford, GA which is about one hour out of Atlanta.  Registration is now open and will close on August 1, 2021.

The Academy will provide a broad overview of inborn errors of metabolism focusing on the clinical diagnosis and treatment of these disorders. A renowned faculty will guide you through seminars on disease recognition and diagnosis, workshops to integrate understanding of normal metabolism and pathophysiology, and case-based workshops on diagnosis and management.

SIMD NAMA is a sterling opportunity in medical education. To quote one participant, “I think it’s a really powerful endorsement for this field of medicine that its seasoned experts come here for a whole week to teach trainees. I am very impressed with this attitude of teaching and it makes me feel excited to be going into this field. This was a great learning experience.”

For more information and application click here.

BioMarin presents: Beyond the Bone: Recognizing the Common Signs of Uncommon Genetic Disorders – February 26, 2021

Dr. Cathleen Raggio, pediatric orthopedic surgeon, presents a virtual educational program, Beyond the Bone:  Recognizing the Common Signs of Uncommon Genetic Disorders, Friday, February 26, 2021, 10:30 am, ET.

Most skeletal dysplasias have a genetic component, yet many patients are diagnosed with skeletal dysplasias without confirmatory testing. Delayed or incomplete diagnoses can result in less-than-optimal patient outcomes, including potential surgical risks.  Join us to learn the “red flag” signs and symptoms to watch for and how genetic testing can create better opportunities for disease-specific care.

Dr. Raggio has been a practicing orthopedic surgeon for over 30 years. She is the Orthopedic Director of the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias at the Hospital for Special Surgery.  She has been involved in many clinical trials and has been associated with several societies, including the Orthopedic Research Society, the Scoliosis Research Society, the Pediatric Orthopaedic Society of North America, and the Osteogenesis Imperfecta Foundation. Her contributions extend beyond her practice and research, and she has  been recognized with several awards that appreciate her role in raising awareness of skeletal dysplasias.

To register, click here.

Quinnipiac University Rare Disease Day Symposium – February 27, 2021

Frank H. Netter MD School of Medicine at Quinnipiac University is hosting an online Rare Disease Day Symposium, on Saturday, February 27, 2021 from 9 am to 3 pm, ET.

Rare Disease Day is a global event that serves to raise awareness of over 7,000 identified rare diseases. Although each disease on its own is rare, together they affect approximately 1 in 10 Americans. Since 2015, the Frank H. Netter MD School of Medicine at Quinnipiac University has hosted a Rare Disease Day Symposium, providing an opportunity for patients, family members and researchers to share their stories, their research and insight into the development of novel therapeutics.

Clinicians may qualify for 3 AMA PRA Category 1 CME Credits for this year’s event.

To register click here.


July 2020 Update

Hello, NERGG Colleagues!

I hope you continue to be well and are able to enjoy this lovely summer weather.  It’s a great time for walks, picnics, stargazing, and so much more.  In this current time, it’s so important to make lemonade from lemons — literally!

Website Re-Launch:  Please check out our updated website at http://nergg.org.  I think that you’ll find it welcoming and easy to navigate.  Thank you to NERGG‘s Website Committee and consultant Jean Alexander for their hard work and creativity.  It’s a work-in-progress, so there is still more to be done.   If you have questions or suggestions, please let me know.

Annual Educational Conference:  In place of our traditional in-person conference, we will be hosting a virtual online event to deliver timely information about genetic conditions for families, providers, and advocates.  We are just in the planning stages, but we will offer this event over the course of two days, December 3 and 4, 2020.  Each day will be about four hours in length.  Stay tuned for further information.

JULY 15 webinar on Gaucher Type 1

Sanofi Genzyme cordially invites you to a discussion entitled:

Don’t Wait: Help Prevent Progression of Gaucher Disease Type 1
Presented by

Linda Spencer, NP
Pediatric NP, Genetics Children’s Hospital of Michigan

Wednesday, July 15, 2020 at 1:00 PM EDT

Click on the link below to register for this virtual event: URL:

Those are my brief announcements for now.  Stay well and please do keep in touch!