Disclaimer: The information on this website is not intended to diagnose or treat any condition. Information should be regarded as general guidance only. RNE shall not be liable for any action taken as a result of information taken from this site. RNE shall not be responsible for any information contained on sites linked to RNE's pages. Patients should consult their doctors before starting, stopping, or changing any medical treatments.
RNE founder, Julie Gortze sharing about RNE's mission on Mansfield Cable Station. Click HERE to hear more!
We hope you enjoy your visit to our site and find what you are looking for. If you need more information, please contact us at Info@rarenewengland.org.
2017 - RNE Year in Review
Would you like to help RNE raise funds to enable programs and services for the rare disease community? Contact us at Info@rarenewengland.org
RNE has began production of a cable show series about rare and complex diseases. This program will offer information, education and highlight resources available to all stakeholders living and working in the rare disease community. Click here to see recordings!
"When you hear hoofbeats look for horses not zebras" --- Dr Theodore Woodward. Medical students have been taught for decades to look for the common ailment when a patient presents with symptoms. After all, rare diseases are rarely seen and the patient probably has a common problem.
However, in the world of rare diseases, many patients are overlooked and consequently spend years in consults before finally being diagnosed. For this reason, we asks that zebras always be considered.
Rare New England thanks Boston University Genetic Counseling Program student, Katie Dunn, for this fabulous graphic of our new RNE New England zebra pattern!
Phase 1/2 Study of mRNA-3704 in Patients with MMA MUT Deficiency
Methylmalonic acidemia (MMA) is a genetic disease that is primarily caused by an enzyme named methylmalonyl CoA mutase (MUT) that does not work properly. Moderna is developing an investigational mRNA medicine (mRNA-3704) that provides instructions to cells in the liver to make normal MUT protein.
Please click here for more information about this study.