U.S House of Representative Jan Schakowsky (D) IL introduced H.R. 4853, the Medical Device Nonvisual Accessibility Act to the U.S. Congress. The bill calls upon the Food and Drug Administration to promulgate non-visual accessibility standards for Class II and Class III medical devices with digital displays. Some examples of these items include oximeters, thermometers, CPAP machines and diabetic readers. Once the FDA has created the regulations, manufacturers will have a year to comply.
If you would like to support this legislation, please ask your own Congressional representative to co-sponsor the bill.
If you are not sure who your representative is, you can look up using your zip code here: https://www.house.gov/representatives
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
This article is a review of lysosome-related organelles. They are specialized structures within a cell that have specific jobs to perform. These organelles are involved in coloring in eyes and skin, hemostasis (stopping of bleeding), and lung function. In HPS they do not function normally or are entirely absent. Researchers continue to understand lysosome-related organelles and search intensively for treatment options.
CB1R – and – INOS (Download this full article in a PDF printable format. 20 pages.)
The HPS Network has partnered with the lab of Dr. William Gahl at the National Institutes of Health Genetic Research Institute to create a post/doc position devoted to gene therapy research of HPS. The donation to cover the salary for two years has been given by the HPS Network as well as an additional $20,000/year for supplies. This position has not been filled as of this publication.
Gene therapy holds a lot of promise to treat HPS, but there is still much to learn about the best practices and techniques that would be required. Working with Dr. Gahl is an extraordinary opportunity and this position holds a great deal of promise.
Dr. Gahl’s lab is located at the National Institutes of Health in Bethesda, MD. Until very recently, he was the primary investigator for HPS. His lab discovered three of the known genes that cause HPS and has conducted a number of treatment-oriented clinical trials in hopes of finding a better treatment, or ideally the cure, for HPS.
There have been several articles written worldwide about Hermansky-Pudlak syndrome associated colitis in types 1 and 4. This article from France as shown that using immunosuppressive drugs such as Remicade led to a positive response in the granulomatous colitis of a patient with HPS. The patient’s immune system attacks the body’s own tissue and Remicade suppresses this reaction. Research is an ongoing process with science giving hope and cures.
The HPS Network and Boston-based Broad Institute have formed a partnership to make genetic testing more available to families impacted by Hermansky-Pudlak Syndrome. The Institute is willing to provide free gene type testing to families in need, or who have not yet been able to find the gene causing their HPS. Currently, the service is only available to families in the United States and Puerto Rico.
“Wanting to know your gene type is a personal choice,” says HPS Network Vice President and Director of Communications Heather Kirkwood, “But there are some very good reasons to know. There can be a lot of anxiety wondering if you have a type of HPS that causes lung disease. Clinical trials usually require that you know your gene type to participate. So, we are ecstatic about this opportunity.”
The HPS Network and Broad Institute are also hoping to partner on a project to calculate the prevalence of HPS more accurately in the general population in the United States. Currently, numbers are only available for Puerto Rico.
The Broad Institute of the Massachusetts Institute of Technology, and Harvard, was launched in 2004 to improve human health by using genomics to advance our understanding of the biology and treatment of human diseases and to help lay the groundwork for a new generation of therapies.
The Penn Medicine Orphan Disease Center (ODC) will host the 8th Annual Million Dollar Bike Ride on Saturday, June 12, 2021 to raise money for rare disease research.
The Million Dollar Bike Ride brings over 750 cyclists and volunteers to Penn’s campus to ride either 13, 34, or 72 miles starting in the city, and ranging across the Greater Philadelphia region. In six years, the MDBR’s 30+ teams have raised over $10 million to fund research grants on the diseases they represent. The ODC ensures that 100% of the funds raised goes towards these pilot grants, with no overhead taken out.
The HPS Network will be participating in this virtual fundraiser which culminates June 12, 2021. You can donate, register as a rider, form a team, and most importantly share! Visit https://www.milliondollarbikeride.org/hps-network
The EveryLife Foundation for Rare Diseases is pleased to open applications for the second year of the #RAREis Scholarship Fund. Thanks to the support of Horizon Therapeutics plc, one-time awards of $5,000 each will be granted to up to 35 recipients for the Fall 2021 semester.
Who is eligible?
- Any rare disease patient pursuing accredited classes at any stage in their life
- Full-time, part-time or trade school students
- Non-traditional students (students do NOT need to be pursuing an undergraduate or graduate degree)
The #RAREis Scholarship is available for any rare disease patient who is age 17 or older and has a US residency. This scholarship is not degree specific or dependent on a four-year of two-year degree program, students must be enrolled or planning to enroll in an accredited course(s) for Fall 2021 Semester.
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2
Just the title of this Japanese article is intimidating, however, the information it contains is valuable. HPS type 2 can exhibit failure of the immune system to protect the body adequately from infection. Type 2 like all other HPS types has ocular albinism (OCA). This article strongly recommends that when albinism is diagnosed, a white blood cell count should be performed along with other blood studies. As mentioned in previous articles, early detection is key to adequate treatment and to subdue progression of disease.
Read more: https://pubmed.ncbi.nlm.nih.gov/31820501/