August, 2015

Dr. H. Orhan Akman: RGI BeHeard Grant Winner

The Rare Genomics Institute (RGI) is a non-profit organization that helps leverage the resources of industry and academic partners to promote research discoveries related to rare diseases. Its division, BeHeard, (Helping Empower & Accelerate Research Discoveries) offers premium biotechnology prizes to rare disease researchers.

Dr. H. Orhan Akman, Associate Research Scientist at Columbia University Medical Center in New York, has won a grant from the 2015 BeHeard Challenge. Dr. Akman’s grant is related to the mouse models he develops for APBD research. Dr. Akman, your work means so much to the APBD community. Congratulations!

July, 2015

Frequent misdiagnosis of adult polyglucosan body disease. – PubMed – NCBI

Hellmann MA, et al. J Neurol. 2015.

[read more]


July, 2015

House overwhelmingly passes 21st Century Cures Act – Modern Healthcare

21st Century Cures (H.R. 6) bill passes in House by vote of 344-77Washington, D.C. – July 10, 2015 – The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD), on today’s approval by the House of the 21st Century Cures legislative initiative.

Today’s passage in the House of the 21st Century Cures (H.R. 6) bill is a huge win for the rare disease community, which actively supported the legislation. By promising mandatory funding for the NIH, strengthening the FDA’s ability to streamline the clinical trials process, and further incentivizing the development of orphan products, 21st Century Cures will help pave the way for developing new cures and treatments, thereby closing the gap for the vast majority of the 7,000 rare diseases that currently have no approved treatment. The legislation positions the U.S. to be the continued international leader in medical product innovation.

NORD congratulates the House, Energy & Commerce Committee and the other groups who worked to help this initiative pass. Today’s vote underscores the bipartisan commitment to move this legislation through the House and we hope the same spirit of collaboration leads to prompt development of similar legislation for consideration by the Senate.

Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

May 17th, 2015

Congratulations to Dr. Heather Lau APBDRF Scientific Advisory Board member for being awarded a NTSAD grant.

Project: Defining the Natural History of 
Canavan Disease through Development of 
an International Registry
Principal Investigator: Heather A. Lau, MD, MS
Co-Investigator: Paola Leone, PhD
Institution: New York University

Co-funder: The Canavan Foundation

Goals of the proposal:
* Create an international electronic database to gather data prospectively in order to enhance the understanding of clinical variability, further define the relationship between genotype and phenotype, and delineate the progression of natural history of patients with Canavan disease (CD).
* Maintain a bio-repository of blood and urine specimens collected from CD patients for potential evaluation of biomarkers.
* Provide the medical community treating patients with CD with recommendations for monitoring and managing patients in order to optimize patient care.

* To define and categorize clinical endpoints that may be used for the development of clinical therapeutic trials.

May, 2015

APBD Now Included!
Mount Sinai’s Genetic Testing Laboratory will now include APBD as one of 58 disorders in their comprehensive Askenazi Jewish Carrier Screening

CJCS Catalog 05-28-2015