We're kicking off with a bang! May is jam-packed with event, awareness days, and news! Without further ado, let’s do the darn thing and get to Rare and Relevant, Your TL;DR!
First up, it's Huntington's Disease Awareness Month, Acute Disseminated Encephalomyelitis (ADEM) Awareness Month, ALS Awareness Month, Cystic Fibrosis Awareness Month, Ehlers-Danlos Syndrome and Hypermobility Syndrome Awareness Month,
We're kicking off with a bang! May is jam-packed with event, awareness days, and news! Without further ado, let’s do the darn thing and get to Rare and Relevant, Your TL;DR!
First up, it's Huntington's Disease Awareness Month, Acute Disseminated Encephalomyelitis (ADEM) Awareness Month, ALS Awareness Month, Cystic Fibrosis Awareness Month, Ehlers-Danlos Syndrome and Hypermobility Syndrome Awareness Month, Ichthyosis Awareness Month, Myositis Awareness Month, Prader-Willi Syndrome Awareness Month, Progressive Supranuclear Palsy (PSP) Awareness Month, and PTEN Hamartoma Tumor Syndrome Awareness Month, all happening from May 1st to 30th.
Speaking of PTEN awareness month, back in November of 2022 I spoke with Cowden Syndrome / PTEN syndrome patient advocate and men’s mental health advocate, David Ross where he shared a little about the association between these conditions.
If you’d like to hear the rest of the episode after this one, the link will be in the show notes.
[https://signalise.podbean.com/e/ep8-david-ross/]
Stil in May, the 15th marks International Mucopolysaccharidosis Awareness Day and Tuberous Sclerosis Complex (TSC) Global Awareness Day. And don't forget CDG Awareness Day on May 16th, dedicated to raising awareness for a family of rare metabolic diseases that are often overlooked by the medical and scientific communities.
If that’s not enough awareness for you in May, we also have World Neurofibromatosis Awareness Day on May 17th, dedicated to raising awareness for this condition, causing tumors to grow on nerves throughout the body.
On May 19th, we have #Red4Veds, a social media campaign where people are encouraged to wear red and share photos on social media to raise awareness for Vascular Ehlers-Danlos Syndrome, a rare genetic disorder that affects the connective tissues in the body. vEDS carries with it a shortened life-span with most folks rarely surpassing their 40th birthday. If you have a family history of aortic dissection, tears or eruptions of other organs, please see your GP.
And for those in Wisconsin, USA mark your calendars for Rare Disease State Advocacy Day on May 17th from 3:30pm to midnight, organized by the Every Day Life Foundation. This is a day for Wisconsin residents impacted by rare diseases to come together, meet with state legislators, and share their stories to help advance the policy priorities of the rare disease community.
What about PS? Podcast
Did you know that friend of the podcast and first guest, Sam Fillingham, has started a Poland Syndrome podcast alongside host Giselle Barbosa?
The podcast is called “What about PS?” and will be hosted primarily by Giselle. She is a PIP-UK ambassador, an entrepreneur, and an athlete!
According to the press release, “ (The) podcast aims to shine a light on Poland Syndrome, a rare disease, and the lived experience of the Poland Syndrome community. Each episode, Giselle will explore inclusive and varied experiences of people living with Poland Syndrome with a variety of guests, from Paralympian Kim Daybell, Former Cricketer Lewis Hatchett, Australian Gymnast Clay Mason Stephens to medical professionals, bra companies and the most amazing members of our community. With engaging interviews, thought-provoking discussions, and the inclusive experience of the Poland Syndrome Community. The What about PS? podcast promises to be a must-listen for anyone curious about Poland Syndrome. Including the Poland Syndrome community, their friends and families, medical professionals and the rare disease community.”
[Insert Whatsapp clip from Sam if she sends one]
Whether you are affected personally by Poland Syndrome or not, I have no doubt the podcast will be interesting and engaging! You can find them wherever you get your podcasts, just search “What about PS?”
Very quickly, also in Poland Syndrome news, a little boy here in the UK named Charlie hosted a fun-run for Poland Syndrome. He’s a big fan of PIP-UK and the amazing things they do for kids like him. He raised over £844, roughly 1,560 US Dollars or 87392 Indian Rupies, for PIP UK. He reached 168% percent of his goal! Well done, Charlie and to the 32 folks who donated to his fun run for Poland Syndrome Support UK. A link will be in the show notes.
[https://www.justgiving.com/page/pip-uk-poland-syndrome-charity-charliesrun]
News Segment
All links will be in the show notes so make sure to subscribe on your podcasting app of choice or subscribe to our YouTube Podcast. You can find us by searching Dazzle4Rare on any of these platforms.
Sanford Research hosts the 13th Annual CoRDS Great Plains Rare Disease Summit
From the 24th April press release, “Sanford Research will host the Sanford CoRDS 13th Annual Great Plains Rare Disease Summit May 11-12 in Sioux Falls. This year’s event theme is, ‘Rare Neurodevelopmental Disorders.’”
The annual summit on rare diseases aims to bring together researchers and those affected by rare diseases to collaborate and educate people on advancements in the field of pediatric neurodevelopmental disorders. The event kicks off with opening remarks from Ashish Gupta, followed by presentations from rare disease advocates Amber Freed and Allison Bones. Thursday's sessions are open to patients, families, and those in the community impacted by rare diseases.
[source: https://news.sanfordhealth.org/news-release/sanford-research-to-host-great-plains-rare-disease-summit/]
Shout-out to Allison if you’re listening!
On to topic of CoRDS and Sanford Research
Sanford Health is a non-profit health care provider in the US. They’ve created a Rare Disease Registry to gather data on rare conditions. The registry aims to improve the understanding of rare diseases and accelerate research and treatment development. The registry is open to anyone in the US with a rare condition and is free to participate in. Participants can opt to share their medical history, symptoms, and genetic information to help researchers get a better understanding of their condition. The registry also includes a biobank where participants can donate samples for further research. So far, the registry has enrolled over 2,000 participants and is actively seeking more.
What’s a biobank, you may be asking?
A biobank in rare disease is a repository that stores biological samples (such as blood, tissue, urine, or saliva) and associated data from individuals with rare diseases. The purpose of a biobank is to provide a resource for researchers to study the underlying causes of rare diseases, develop new diagnostic tools and treatments, and ultimately improve patient outcomes.
Biobanks typically collect samples from individuals with rare diseases and their family members, as well as from healthy individuals for comparison. The samples are carefully stored and labeled, and the associated data (such as medical histories, genetic information, and demographic information) are recorded in a database.
Biobanks are critical for advancing rare disease research because they provide researchers with access to a large number of rare disease samples, which would be difficult to obtain on an individual basis. They also help to standardize sample collection and data recording, which makes it easier to compare data from different studies and identify commonalities and differences between rare diseases.
We’ll drop a link in the show notes for more info.
[source: https://research.sanfordhealth.org/rare-disease-registry]
New study discovers over 800 genes causing 60 rare genetic disorders in over 5,500 individuals, highlighting need for increased research participation for underrepresented groups
The study called Deciphering Developmental Disorders looked at 5,500 people in the UK and Ireland. They found that over 800 genes were involved in causing about 60 conditions, with three-quarters caused by spontaneous mutations. This research can help doctors make faster and more accurate diagnoses for people with these conditions.
The study also found that families of non-European ancestry had lower chances of getting a correct diagnosis, spotlighting the need for increased research participation from under-represented groups. By encouraging participation from people of diverse ethnic and economic backgrounds in research studies, scientists can gain a better understanding of how genetics and ethnicity are related, which will lead to better diagnostics and treatment options. This underscores the importance of events like EDIRA or Equality and Diversity in Research Association. Check out EP15 for more info on EDIRA.
[source one: https://www.ddduk.org/updates.html]
[source two: https://www.ndph.ox.ac.uk/news/5-550-people-diagnosed-with-rare-genetic-diseases-in-major-research-study]
AstraZeneca drops $855 million dollar drug
AstraZeneca, a drug company, has abandoned a rare disease drug candidate worth $855 million after two phase 2 trials failed. The drug was originally successful in a larger phase 3 trial, but the company found out that it didn't work as well as they thought. The drug was meant to eliminate copper from the body in patients with Wilson disease, but the phase 2 trials didn't show that it did so. The company decided it would take too long to develop the drug further and decided to stop investing in it.
Conferences
All-around likable guy, Daniel DeFabio will be at BIO Boston screening five of YOUR rare disease films at the conference. Follow Daniel on Instagram at https://www.instagram.com/disorderrarediseasefilms/.
Incidentally, BIO Boston is also on the Dazzle4Rare Community Calendar. If you’re not already subscribed to the calendar and adding YOUR community events of interest, what are you waiting for?
Visit dazzle4rare.net for the online version of the events and awareness calendars. To subscribe, email me for details.
Solve-RD
The H2020 funded flagship EU project, Solve-RD, is making strides towards solving rare disease mysteries where a molecular cause is not yet known. They’ve achieved a successful Seeding Grant project where they’ve used zebrafish to confirm AMFR as a cause for Hereditary Spastic Paraplegia. You can find this on their website.
The groundbreaking project brings all of us one step closer to finding the answers needed in rare diseases. Learn more about Solve-RD and their ongoing efforts to solve rare diseases at solve-rd.eu.
Can Gene Therapy Help Children Walk?
Duchenne muscular dystrophy is a genetic disorder that leads to muscle degeneration, resulting in young patients like Conor in this story requiring full-time wheelchair use by the age of 10 years of age.
However, with a gene therapy from Pfizer due for approval from the Food and Drug Administration next month, the future is looking brighter for children with the disease. The first patient, Conner Curran, underwent the trial treatment five years ago, which triggers muscle cells to produce the dystrophin protein that is essential for muscle function, and has since been able to retain mobility. The gene therapy does not provide a cure, but it does provide a "meaningful benefit" for more than five years, giving the boys the opportunity for a better life.
I say, “boys” here beacause according to “DMD generally affects boys because the dystrophin gene is on the X chromosome. Chromosomes are the parts of your cells that contain your genes. Boys only have one X chromosome.”
[https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/d/duchenne-muscular-dystrophy.html#:~:text=DMD generally affects boys because,only have one X chromosome.]
Duchenne's affects 12,000 to 15,000 children in the US and 300,000 worldwide. It is usually genetic, passed down from a mother to a son, as the gene sits on the X chromosome, which determines sex. The disease is caused by a mutation in the dystrophin gene, which leads to the inability to produce the essential protein needed for muscle function. Without dystrophin, muscles cannot repair themselves, leading to the accumulation of damage over time.
Four companies are currently developing gene therapies for Duchenne's, and Sarepta Therapeutic's drug SRP-9001 will be the first to be considered by the FDA on May 12th. Although gene therapy is exciting, long-term prognosis for patients remains uncertain as each disease requires a distinctive gene therapy and each company has a slightly different approach. While there is still more work to do, significant improvements have been made in the last eight years, with 50 treatments in the pipeline, promising hope for the future for those affected by Duchenne's.
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