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/
International Albinism Awareness Day (IAAD) is on Sunday, June 13, 2021. This year’s theme and hashtag is #StrengthBeyondAllOdds. On this day, we would like to showcase how resilient and powerful those with albinism are. It is a day to share our voice, show our beauty, and advocate against stereotypes of the albinism community. All individuals with Hermansky-Pudlak Syndrome have albinism, but not everyone with albinism has HPS. On this day, all individuals with albinism stand together!
IAAD was established by the UN on December 18, 2014, so that every June 13th would be International Albinism Awareness Day, focusing on the global push for advocacy of those individuals with albinism. For more information regarding IAAD please visit: https://www.albinism.org/iaad/
When we first laid eyes on our baby girl Adalynn (Addy) it’s safe to say we, two dark haired parents were shocked to see our daughters Snow White hair.
As parents we knew it was strange that her hair was so light but we thought very little of what we thought was a little detail in our daughters life…little did we know that “little detail” was soon to change our lives. It was at Addys’ one month check up that the pediatrician suggested looking into an Albinism Diagnosis… After a few weeks of waiting the Albinism Diagnosis was confirmed by the ophthalmologist.
We soon realized we knew very little if anything at all about Albinism so we did what most parents nowadays would do we turned straight to “Dr. Google”. It was then that we learned rather quickly that genetic testing would be very important moving forward because there is potentially life threatening types of Albinism. After months of fighting for Genetic Testing May of 2020 an already crazy year, our fears were made reality.
Addy did indeed have Hermansky Pudlak Syndrome Type 1. It’s scary as a parent to be told that your baby has a medical condition that some if not most doctors and people knew very little about.
It’s even more scary to be told there is no cure at this time. Shortly after the anxiety and fear settled what little bit it could we got in contact with the HPS Network and what a game changer that was for our family. We were able to build a relationship and a family with people all over the world who knew exactly how we were feeling. A family who has been in our shoes.
A family who like our own will be by your side while you deal with the effects of the diagnosis that changed our lives forever. A family who like your own will fight to help find a cure.
Even now in the midst of the uncertainty moving forward we trust not only in the love we have for each other and the plans the Lord has for our sweet girl, our future children, and our family but we trust that we have a connection with people who will be there like family every step of the way.
My rare journey: Well, let’s start with not having a lot of answers from physicians and being on an emotional roller-coaster. I was 11 weeks old when I got the diagnosis of Hermansky-Pudlak Syndrome from my ophthalmologist Dr. Hurdle.
After a 28 day hospital admission, the ball went rolling with going to Overbook School for the Blind in Philly. Then, we found through NOAH in 1995 at one of their conferences Donna Appell who has been a life saver to our family for over two decades and so much more. Living a rare life is amazing because I get to show off my rarities along with finding new talents. Also, it means so much to me knowing that no isolation will be present. The Network is so inspirational and life-changing.
My life long journey all these years being in the network has been immeasurable. Growing up and being the youngest member brings back many many memories.
An estimated 22 people die each day waiting on a life-saving organ transplant according to the Mississippi Organ Recovery Agency, or MORA, as they celebrate National Donate Life Month. One local mother is now working closely with MORA, keeping her daughter’s memory alive as she continues on, turning tragedy into a purpose.
Ellen DuVernay is the mother of an organ donor. She said, “She was just the most amazing person you would ever want to meet, always had a smile on her face.”
But the tears freely flowed one fateful day six years ago, on September 20th, 2011, 26-year-old Brittany DuVernay Saucier’s life was unexpectedly cut short. “When I got to her, she was in a full blown seizure. I just held her in my arms. I just, I guess motherly instinct, I just knew that was it,” said Ellen.
This happened after a horrible golf cart accident. “We came to Memorial and she had a brain bleed and she lasted until the 22nd which was just two days later and the doctors said there was no brain activity.”
At that moment, facing another difficult situation, Brittany’s family decided to honor her decision after learning Brittany had already signed up to be an organ donor. Her sister, Kortney McCaffrey, said, “It didn’t surprise me at all when they told me and to me it was exciting because this wonderful woman could actually live on to make someone else happy.”
That’s exactly what she did. Five people received the gift of life, a second chance, after receiving organs from Brittany, including a woman, Nancy from Texas, who received Brittany’s lungs. “It was just amazing to see this woman full of life now and to hear her sing cracks me up because it’s such a sweet sound knowing that is possible because of Brittany’s lungs,” said Kortney.
And on this day, Brittany’s mother and sister carry on her legacy, working closely with the Mississippi Organ Recovery Agency at Memorial Hospital, encouraging everyone who walked by to sign up to be an organ donor so they could potentially save lives just like Brittany. “We were blessed with 26 of the most amazing years with her. I would want to give that opportunity to another family,” said Ellen.