May 9, 2023 • 22 mins
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? PodcastDid 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
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Hi I'm your host, KimberlyThomas-Tague and
(00:01):
you're listening toSignalise: a Dazzle4Rare
podcast. Whether you're a patient advocate,caregiver, or clinician, Signalise as your
source for good news, personal stories,events, and the things that rare and associated
communities care about,follow Signalise and
Dazzle4Rare at D A Z ZL E, the number FOUR,
R A R E
on Facebook, Instagram and Twitter, where we'll post episode links, updates, and.
(00:26):
More we welcome to episode21. Whether this is your
first or your 21st episode.Thanks for taking the time.
That means a lot to me andthe folks whose news events
and guest appearancesare featured in the podcast.
If you'd like to share somethingwith us cheque, the show
notes for details on how to makecontact now on with your TLDR.
Rare and relevant.
First up, we have Huntington's disease.
(00:49):
Acute disseminated encephalomyelitis,or ADEM ALS awareness, cystic
fibrosis, ellers, danlos andhypermobility syndromes, respectively,
each theosis awareness month,myositis Prater, Willy syndrome,
progressive supranuclear policy orPSP and P-10 hamartoma tumour.
Syndrome Awareness Month, alsoassociated with cowden's disease.
(01:12):
It's all happening from the1st to the 30th of this month.
Speaking of P-10 Awarenessmonth, back in November of 2022,
I spoke with Cowden syndrome,patient advocate and men's
mental health advocateDavid Ross, where he shared a
little bit about the associationbetween these conditions.
PTEN Hamartoma Tumour syndromeis [...] Cowden Syndrome comes under
(01:32):
the umbrella of. People carriesan increased risk of getting certain
cancers, autism and developmentaldelays. Also, some of the other
things that are associated withmy rare disease whilst you're given.
The diagnosis of Cowden syndrome. It does.
(01:53):
Fits under this umbrella.
It sent home at home Tumoursyndrome, the reason why
it's called PTEN is becauseof the P-10 gene, which
is linked to the cellovergrowth, which cause the for
example, the increasedrisk of getting some cancers.
If you'd like to hear more from David in that episode, the link will be in the show.
(02:16):
Still, in May we have the 15th, whichmarks international mucopolysaccharidosis.
I hope I said that right AwarenessDay and the tuberous sclerosis complex
known as TSC and the Global AwarenessDay is also on the 15th. Don't forget,
CDG Awareness Day on the 16thand it is dedicated to raising awareness.
(02:38):
For a family of raremetabolic diseases that are
often overlooked by medicaland scientific community.
If that's not enough, in May wealso have world Neurofibromatosis
Awareness Day on the 17th. Thisstate is dedicated to raising awareness
for this condition, which causestumours to grow on the nerves throughout
the body. On the 19th of May wehave hashtag red RED the number 4.
(03:02):
V EDS. Red 4.
This is a social media campaign wherepeople are encouraged to wear red and share
photos on social media to raise awarenessfor vascular Elers Danlos syndrome V
DS carries with it a short lifespan,which most folks really surpass their 40th
birthdays. If you have a family historyof aortic dissection, tears or eruptions.
(03:24):
Of the organs, please see your GP.
Now to bound out awareness days, we haveone in Wisconsin, USA, so market calendars
for rare disease state advocacy day onthe 17th of May from 3:30 PM to midnight.
This event is organised by Everyday LifeFoundation. This is for Wisconsin residents
who are impacted by rare diseases tocome together, meet with state legislators.
(03:47):
And share their storiesto help advance policy
priorities for the raredisease community.
And Speaking of calendars, if youdidn't know, we have two dazzle for our
calendars. Both are public and are accessibleto you anytime, anywhere on the go.
The first calendar we haveis our community events
calendar, which ismaintained by myself and our
dazzle for rare network.If you would like to add
your webinar, your podcastor your other reoccurring.
(04:12):
Event or one time events.We also have an awareness
days calendar and it alsohas a couple of other days for
fun thrown in there andyou can add to that calendar
as well if your awarenessdate is not already there.
For more details you can lookin the show notes or reach out
to me and now for somethingcompletely different. What about P?
Yes. Well, what about PSis a podcast. Did you know
that friend of thispodcast, signalised and our
(04:32):
first signalised guest,Sam Fillingham has started
a Pollen syndrome podcastwith host Giselle Barbosa?
Some filling room. I'm CEO of Pippu carry the pollen syndrome support and network.
Territory they were.
A charity that supportsfamilies affected by a
rare lung difference ofcongenital anomaly called
(04:54):
Poland syndrome. Themain symptoms are a missing
and underdevelopedchest muscles, chest veins.
General underdevelopment inthe chest area and also under
development in the hands andfingers and the main symptoms.
If you didn't know,then you know now the
podcast is again calledwhat about PS and will
(05:15):
be hosted primarily by Giselle. She's a pipUK ambassador and entrepreneur and an at.
According to the press release, thepodcast aims to shine a light on pollen
syndrome, a rare disease, and the livedexperience of the pollen syndrome community.
Each episode Giselle willexplore inclusive and varied
experiences of people livingwith Poland syndrome with a
variety of guests from ParaOlympian Kim Daybell, former
(05:35):
cricketer Lewis Hatchett,Australian gymnast Clay Mason.
Stephens to medicalprofessionals, bra companies and
the most amazing membersof our community with engaging
interviews, thoughtprovoking discussions and the
inclusive experience of thePoland syndrome community.
The what about PS podcastpromises to be a must listen
for anyone curious aboutpollen syndrome, including
(05:56):
the pollen syndromecommunity, their friends, family
medical professionals, andthe rare disease community.
One last thing quickly.Here in Poland Syndrome
News, a little boy herein the UK named Charlie
hosted a fun run forPoland syndrome. He's a big
fan of Pipe UK and theamazing things that they do.
For kids like him, heraised over 844 pounds,
which is roughly 1560U.S. dollars, or 87,000.
(06:20):
392 Indian rupees forPoland Syndrome support UK
he reached 168% of hisgoal. Well done Charlie and.
Also well done to the 32 folks whodonated to his fund run for Poland Syndrome
support UK. We'll leave a link in theshow notes and now Forbidden News.
All links will be in theshow notes, so make sure to
subscribe to podcast on yourpodcasting app of Choice or
(06:41):
subscribe to our YouTubepodcast. You can find us by searching
a dazzle for rare on anyof these platforms. Sanford.
Research hosts the 13th annual Chords, Great Plains Rare Disease summit.
From the 24th of April press release, SanfordResearch will host the Sanford Chords,
thirteen annual Great Plains rare DiseaseSummit, May 11th to 12th in Sioux Falls.
(07:05):
This year's event themeis rare neurodevelopmental
disorders. The annualsummit on rare diseases aims
to bring together researchersand those affected by
rare diseases, to collaborateand educate people.
And advancements in the field of paediatricneurodevelopmental disorders. The
event kicks off with opening remarks byAshish Gupta, followed by presentations
from rare disease advocates Amber Freedand Alison Bones. Thursday, Sessions are
open to families, patients, and those inthe community impacted by rare disease.
(07:33):
And Allison, if you're listening, shout outto you on the topic of chords and Sanford
research. Sanford Health is a nonprofithealthcare provider in the United States.
They have created a raredisease registry to gather data on
rare conditions. The registryaims to improve the understanding
of their diseases andaccelerate research and treatment
development. The registry isopen to anyone in the United States.
(07:54):
The rare condition andit is free to participate.
Participants can opt toshare their medical history,
symptoms and geneticinformation to help researchers
get a better understandingof their condition.
The registry also includes a bio bank whereparticipants can donate samples for further
research. So far, theregistry has enrolled
over 2000 participantsas actively seeking more.
This is pretty exciting stuff, especiallythe biobanking part. If you're not sure and
(08:18):
you're asking yourself what is a biobank,let me just give you a quick explanation.
A biobank in rare diseases is arepository that stores biological
samples such as blood, tissue,urine or saliva, and associated
data from individuals with rarediseases such as their medical
records or a copy of theirdiagnosis or other relevant data.
The purpose of a biobankis to provide a resource for
(08:40):
researchers to study theunderlying causes of their diseases.
Develop new diagnostictools and treatments and
ultimately improvepatient outcomes. Biobanks
typically collectsamples from individuals
with rare diseases andtheir families as well.
As well as healthyindividuals for comparison, the
samples are carefullystored and labelled, and the
associated data such asmedical histories, genetic
information and demographicsare recorded in a database.
(09:04):
Biobanks are critical foradvancing rare disease
research becausethey provide researchers
with access to a largenumber of rare disease
samples, which wouldbe difficult to obtain.
On an individual basis, theyalso help us to standardise sample
collection and data recordingwhich makes it easier to compare
data from different studiesand identify commonalities and
differences between rarediseases. We'll drop a link in the.
(09:25):
Notes a new studydiscovers over 800 genes
causing 60 rare geneticdisorders, and over 5500
individuals, highlightingthe need for increased
research participation forunderrepresented group.
The study is called decipheringdevelopmental disorders,
and it looked at 5500people in the UK and Ireland.
They found that over 800 geneswere involved in causing about 60
(09:49):
conditions, with three quarterscaused by spontaneous mutation.
This research can behelpful to doctors to make
faster and more accuratediagnosis for people
with these conditions.The study also found
that families of nonEuropean ancestry had lower
chances of getting acorrect diagnosis, spotlighting
the need for increasedresearch, participation
from underrepresentedgroups by encouraging
participation from peopleof diverse ethnicities.
(10:13):
And economic backgrounds inresearch, scientists can gain a better
understanding of how these factorsare related or may interplay, and this will
hopefully lead to better diagnosticand treatment options. This underscores
the importance of events likeadira, the equality and diversity and.
Search association cheque out episode 15 Formore information on Adira. This next piece
(10:33):
of news is kind of bonkers, but I'm expectingthere's probably a good reason for this.
AstraZeneca drops and $855 milliondrug AstraZeneca, a drug company,
obviously has abandoned a raredisease drug candidate worth 855.
Million U.S. dollars after phasetwo trials failed. The drug was
originally successful in a largerphase three trial, but the company
(10:55):
found out that it didn't workas well as they had thought. The
drug was meant to eliminatecopper from the body in patients with.
'S disease. But thephase two trials didn't
show that it did thatthe company decided it
would take too long todevelop the drug further
and has decided tostop investing in it.
Upcoming conferences. Yay. I know alot of folks listening, probably do attend
(11:16):
conferences, whether they attend themin person or online. If this isn't you.
Don't worry, it's a quick segment.
All round Michael Guy DanielDefabio will be at the bio Boston
Conference screening five of yourrare disease films at the conference.
Follow Daniel on Instagramat instagram.com/disorder rare
disease films. Incidentally,Bio Boston is also on the
(11:37):
dazzle of Rare communitycalendar that we mentioned
earlier. If you're not alreadysubscribed to the calendar.
Please do so now get in touchadding your community events of
interest can only benefit you.So what are you waiting for?
Visit dazzlefora.net, which at the timeof recording is down for maintenance
but should be up soon if not reachout to me. Info is still in the show note.
(12:03):
Next up we have kale gene therapyhelp children walk. So if you are not
familiar with the condition Duchennemuscular dystrophy or DMD, it's a
genetic disorder that leads tomuscle degeneration resulting in young
patients like the child in this storyneeding to use a wheelchair full time.
Sorry about the age.
Ten. However, in this case with gene therapyfrom Pfizer, which is hopefully due to
(12:27):
be approved either this month or next,the FDA or Food and Drug Administration is.
To be releasing this drug and thefuture looks bright for children like
this little boy. The first patient ConnorKieran, underwent the treatment.
Five years ago.
This treatment triggers cells to producedystrophin protein, which is essential
to muscle function and has since beenable to help Connor retain his mobility.
(12:50):
The gene therapy doesn't provide acure, but it does provide a meaningful
benefit for up to five years, givingboys the opportunity for a better life.
Now I say boys becauseaccording to Cedar
Sinai, DMD generallyaffects boys because of the
dystrophin gene whichis on the X chromosome.
Duchenne affects 12,000to 15,000 children in the US.
(13:11):
And 300,000 worldwide,it's usually genetic in
nature, passing downfrom a mother to a son.
As the gene sits on theX chromosome, as we've
just said, the diseaseis caused by a mutation
in the dystrophingene, which leads to the
inability to produceessential proteins needed
for muscle function without the dystrophinmuscles cannot repair themselves leading to.
The accumulation of damage overtimeat time of recording four companies are
(13:31):
currently developing gene therapiesfor decisions. The company's Sarepta
Therapeutics has a drug called SRP-9001,and it will be the first to be considered
by the FDA on the 12th of May. So injust a few days, although gene therapy.
Is exciting long term prognosis remains unknown.
(13:52):
Certain each disease requires A distinctivegene therapy, and each company has their
own approach and their own timelines wherethere is still more work to do, significant
improvements have beenmade, with 50 treatments
currently in the drugdevelopment pipeline,
and that makes for a promising future,hopefully for children affected by Duchenne.
(14:15):
Last news item we have is solveRd, the H2020 funded flagship EU
project. Solve Rd is making stridestoward solving rare disease mysteries
where a molecular cause is not yetknown. They've achieved a successful
seed funding grant project wherethey've used zebra fish to confirm a.
MFRAMFR.
(14:37):
As a cause for hereditary******* paraplegia, you
can find more about thison their website, the ground
Breaking Project bringsall of us one step closer
to finding the answersneeded in rare diseases.
Learn more about solveRd and their ongoing efforts
at their website, whichis solve SOLV E-RD dot.
You and that's all she wrote folks for.
(15:00):
This TLDR, rare and relevant,and now for a bit of dazzle for rare
housekeeping. The dazzle for ourwebsite has been down for a few weeks.
In all honesty, I wasfrustrated at not finding any
WordPress templates that Iliked and decided to go back to
creating something more custombecause WordPress has changed
a lot since I did any customalterations or any website.
(15:21):
I'm in the process of getting the D4R 2023 registration back up on the
page. By the time you hear this episode,the page may be back up without the
registration function temporarily whileI add the support for the registration
process back into the website. Thisis usually fairly easy stuff to do and.
Warning excuses ahead, butwith Easter and the bank holidays
(15:42):
and the teachers strike andthe inset days and the King's
coronation amongst some otherpersonal things that have happened,
I haven't been able torestore the functionality just yet.
I do believe the newversion of the site, at
least aesthetically,will be much nicer. Also,
working on cleaning up the content and tryingto distil what dazzle for rare is about.
On that note.
If you are still unsure what Dazzle Ferrer actual.
(16:05):
Is I've been asking folks tohelp me out in terms of explaining
what the impact of reachingthe social networks of others is.
You'll know that content creators oftensay share my posts. It really helps me out,
but how does it help people out? Sobasically rare and associated organisations?
(16:26):
Team up with one anotherto get their message
out to more people. Wedo this by exchanging
messages. I usually sayTwitter friendly message
because Twitter hasbeen our biggest platform.
But who knows where it'll be this year?By working together, all of us can reach a
larger audience and get more attentionto our specific causes or our communities.
(16:47):
If there is a downside to sharing postswith each other and in good faith sharing,
you know theirs with your audience andvice versa, then someone pointed out to me.
We keep the event to one week sothat folks in our community and your
community aren't fatigued by hearingor seeing messages from others, but it's
a great way to help folks in yourcommunity by educating them on something
they may not know anything aboutor that may impact them in some way.
(17:14):
And that, you know, I'veheard from people over the
years that that has exactlybeen the case or that they
didn't think that therewas much understanding of
their condition outside oftheir Facebook community.
And then when they've seen people sharingabout it on during Dazzle Ferrer, they've
just been gobsmacked, which is great. Ilove receiving those types of messages, so.
When you reach people through someonessocial network, it's called social media
(17:37):
amplification. I like to call it signalboosting. That's why this is called signal.
Guys, it's like when you tell afriend something cool that you saw on
social media and they share it withtheir friends and so on and so forth.
Sometimes it picks up steamand becomes viral, and sometimes
it doesn't. By getting otherorganisations and influencers
quote unquote to share your content,where does these organisations
and associated organisationscan amplify these messages?
(18:03):
And reach a wider audience.I think that's also why it's
really important to put somecare into crafting your message,
because if you only have afew words to get across what
you're doing to a completestranger, you better make it count.
That's what I say. So thisidea can help build a community
of supporters and advocatewho care about rare disease in
general and who actually wantto share your messages and help
(18:23):
others by allowing you to reachtheir audience and vice versa.
You guys have all heard mesay that we need to stop preaching
to the choir. If you're notfamiliar with that turn of phrase.
Preaching to the choir,mean speaking to an audience
that already agrees withyou or is already aware of.
Issue in this case withrare disease organisations
or associated communitiesworking together on
(18:44):
social media. The goalis to reach new audiences
beyond the folks whoare already following them.
So rather than just speaking to thefolks who are already aware of the issue
or the issues in your community,you're reaching new people who may not.
Be aware by leveragingthe social media networks
of others rare disease andassociated organisations
can reach new people,build larger communities
(19:05):
of supporters who maynot have been aware of
before, and this can helpraise awareness for rare
diseases, can increasethe number of people who
are actively engaged inadvocating for improved
care, and help supportindividuals and families.
It's it's a novel conceptnow. There are some
historical examples ofmovements or causes that utilise.
(19:28):
Social networks to amplify their messageand build a larger community of supporters.
Because Tom from Myspace did not inventsocial network, they existed before Myspace.
So one example is thecivil rights movement. During
the 1960s, civil rightsactivists use a variety of
tactics to spread theirmessage and build support for
their cause, includingorganising rallies and protests.
(19:49):
Speaking at public events andworking with media outlets to get
coverage, they also leveragesocial media networks in person.
Building grassrootssupports for their cause by
working with localcommunities, churches and other.
The civil rights activists wereable to build a network of supporters
who could help spread the messageand mobilise others to take action.
Another example is the AIDSactivism movement during the
(20:11):
80s and 90s, activists in themovement used a variety of
tactics to raise awareness ofthe AIDS epidemic and advocate
for improved care and supportfor people living with HIV.
They also utilised social networks in person to connect others who were affected by.
Disease. There were alot of ways to share these
stories in these messages.It happened in magazines. It
happened in leaflets,people at social events talking
(20:32):
about it and peopleinviting each other to events.
You know, it's a powerfulthing to, you know, recruit the
people in your life to help.So by sharing these stories.
By organising events byworking with media outlets to get
coverage activists for the ORthe HIV AIDS community were able
to build a powerful network whowere passionate about fighting
(20:53):
for better care and supportfor people living with HIV.
These examples demonstrate thepower of social networks, not necessarily
social media social networks,to build grassroots support for.
Laws and amplify the message, and that'sexactly what dazzle Harare wants to do. By
leveraging the collectivereach of folks and
organisations andcauses, we can spread the
message to a wideraudience and build a
(21:13):
community of supporterswho are passionate about
rare disease andassociated conditions. So
that's what we're doing.I hope that made sense.
And I'm going to leave it to.
You thanks for joining me today.
(21:35):
Thanks for listening tothis week's episode of
Signalise, a Dazzlefor our podcast. To stay
up to date on thepodcast and Dazzle Frere,
follow us on Facebook,Instagram, and Twitter at.
DAZL.
E the number.
4 rare, RARE and finally if.
You liked this?
So share it with a friend and tag us on social media platforms.
Hi I'm your host, KimberlyThomas-Tague and
(00:01):
you're listening toSignalise: a Dazzle4Rare
podcast. Whether you're a patient advocate,caregiver, or clinician, Signalise as your
source for good news, personal stories,events, and the things that rare and associated
communities care about,follow Signalise and
Dazzle4Rare at D A Z ZL E, the number FOUR,
R A R E
on Facebook, Instagram and Twitter, where we'll post episode links, updates, and.
(00:26):
More we welcome to episode21. Whether this is your
first or your 21st episode.Thanks for taking the time.
That means a lot to me andthe folks whose news events
and guest appearancesare featured in the podcast.
If you'd like to share somethingwith us cheque, the show
notes for details on how to makecontact now on with your TLDR.
Rare and relevant.
First up, we have Huntington's disease.
(00:49):
Acute disseminated encephalomyelitis,or ADEM ALS awareness, cystic
fibrosis, ellers, danlos andhypermobility syndromes, respectively,
each theosis awareness month,myositis Prater, Willy syndrome,
progressive supranuclear policy orPSP and P-10 hamartoma tumour.
Syndrome Awareness Month, alsoassociated with cowden's disease.
(01:12):
It's all happening from the1st to the 30th of this month.
Speaking of P-10 Awarenessmonth, back in November of 2022,
I spoke with Cowden syndrome,patient advocate and men's
mental health advocateDavid Ross, where he shared a
little bit about the associationbetween these conditions.
PTEN Hamartoma Tumour syndromeis [...] Cowden Syndrome comes under
(01:32):
the umbrella of. People carriesan increased risk of getting certain
cancers, autism and developmentaldelays. Also, some of the other
things that are associated withmy rare disease whilst you're given.
The diagnosis of Cowden syndrome. It does.
(01:53):
Fits under this umbrella.
It sent home at home Tumoursyndrome, the reason why
it's called PTEN is becauseof the P-10 gene, which
is linked to the cellovergrowth, which cause the for
example, the increasedrisk of getting some cancers.
If you'd like to hear more from David in that episode, the link will be in the show.
(02:16):
Still, in May we have the 15th, whichmarks international mucopolysaccharidosis.
I hope I said that right AwarenessDay and the tuberous sclerosis complex
known as TSC and the Global AwarenessDay is also on the 15th. Don't forget,
CDG Awareness Day on the 16thand it is dedicated to raising awareness.
(02:38):
For a family of raremetabolic diseases that are
often overlooked by medicaland scientific community.
If that's not enough, in May wealso have world Neurofibromatosis
Awareness Day on the 17th. Thisstate is dedicated to raising awareness
for this condition, which causestumours to grow on the nerves throughout
the body. On the 19th of May wehave hashtag red RED the number 4.
(03:02):
V EDS. Red 4.
This is a social media campaign wherepeople are encouraged to wear red and share
photos on social media to raise awarenessfor vascular Elers Danlos syndrome V
DS carries with it a short lifespan,which most folks really surpass their 40th
birthdays. If you have a family historyof aortic dissection, tears or eruptions.
(03:24):
Of the organs, please see your GP.
Now to bound out awareness days, we haveone in Wisconsin, USA, so market calendars
for rare disease state advocacy day onthe 17th of May from 3:30 PM to midnight.
This event is organised by Everyday LifeFoundation. This is for Wisconsin residents
who are impacted by rare diseases tocome together, meet with state legislators.
(03:47):
And share their storiesto help advance policy
priorities for the raredisease community.
And Speaking of calendars, if youdidn't know, we have two dazzle for our
calendars. Both are public and are accessibleto you anytime, anywhere on the go.
The first calendar we haveis our community events
calendar, which ismaintained by myself and our
dazzle for rare network.If you would like to add
your webinar, your podcastor your other reoccurring.
(04:12):
Event or one time events.We also have an awareness
days calendar and it alsohas a couple of other days for
fun thrown in there andyou can add to that calendar
as well if your awarenessdate is not already there.
For more details you can lookin the show notes or reach out
to me and now for somethingcompletely different. What about P?
Yes. Well, what about PSis a podcast. Did you know
that friend of thispodcast, signalised and our
(04:32):
first signalised guest,Sam Fillingham has started
a Pollen syndrome podcastwith host Giselle Barbosa?
Some filling room. I'm CEO of Pippu carry the pollen syndrome support and network.
Territory they were.
A charity that supportsfamilies affected by a
rare lung difference ofcongenital anomaly called
(04:54):
Poland syndrome. Themain symptoms are a missing
and underdevelopedchest muscles, chest veins.
General underdevelopment inthe chest area and also under
development in the hands andfingers and the main symptoms.
If you didn't know,then you know now the
podcast is again calledwhat about PS and will
(05:15):
be hosted primarily by Giselle. She's a pipUK ambassador and entrepreneur and an at.
According to the press release, thepodcast aims to shine a light on pollen
syndrome, a rare disease, and the livedexperience of the pollen syndrome community.
Each episode Giselle willexplore inclusive and varied
experiences of people livingwith Poland syndrome with a
variety of guests from ParaOlympian Kim Daybell, former
(05:35):
cricketer Lewis Hatchett,Australian gymnast Clay Mason.
Stephens to medicalprofessionals, bra companies and
the most amazing membersof our community with engaging
interviews, thoughtprovoking discussions and the
inclusive experience of thePoland syndrome community.
The what about PS podcastpromises to be a must listen
for anyone curious aboutpollen syndrome, including
(05:56):
the pollen syndromecommunity, their friends, family
medical professionals, andthe rare disease community.
One last thing quickly.Here in Poland Syndrome
News, a little boy herein the UK named Charlie
hosted a fun run forPoland syndrome. He's a big
fan of Pipe UK and theamazing things that they do.
For kids like him, heraised over 844 pounds,
which is roughly 1560U.S. dollars, or 87,000.
(06:20):
392 Indian rupees forPoland Syndrome support UK
he reached 168% of hisgoal. Well done Charlie and.
Also well done to the 32 folks whodonated to his fund run for Poland Syndrome
support UK. We'll leave a link in theshow notes and now Forbidden News.
All links will be in theshow notes, so make sure to
subscribe to podcast on yourpodcasting app of Choice or
(06:41):
subscribe to our YouTubepodcast. You can find us by searching
a dazzle for rare on anyof these platforms. Sanford.
Research hosts the 13th annual Chords, Great Plains Rare Disease summit.
From the 24th of April press release, SanfordResearch will host the Sanford Chords,
thirteen annual Great Plains rare DiseaseSummit, May 11th to 12th in Sioux Falls.
(07:05):
This year's event themeis rare neurodevelopmental
disorders. The annualsummit on rare diseases aims
to bring together researchersand those affected by
rare diseases, to collaborateand educate people.
And advancements in the field of paediatricneurodevelopmental disorders. The
event kicks off with opening remarks byAshish Gupta, followed by presentations
from rare disease advocates Amber Freedand Alison Bones. Thursday, Sessions are
open to families, patients, and those inthe community impacted by rare disease.
(07:33):
And Allison, if you're listening, shout outto you on the topic of chords and Sanford
research. Sanford Health is a nonprofithealthcare provider in the United States.
They have created a raredisease registry to gather data on
rare conditions. The registryaims to improve the understanding
of their diseases andaccelerate research and treatment
development. The registry isopen to anyone in the United States.
(07:54):
The rare condition andit is free to participate.
Participants can opt toshare their medical history,
symptoms and geneticinformation to help researchers
get a better understandingof their condition.
The registry also includes a bio bank whereparticipants can donate samples for further
research. So far, theregistry has enrolled
over 2000 participantsas actively seeking more.
This is pretty exciting stuff, especiallythe biobanking part. If you're not sure and
(08:18):
you're asking yourself what is a biobank,let me just give you a quick explanation.
A biobank in rare diseases is arepository that stores biological
samples such as blood, tissue,urine or saliva, and associated
data from individuals with rarediseases such as their medical
records or a copy of theirdiagnosis or other relevant data.
The purpose of a biobankis to provide a resource for
(08:40):
researchers to study theunderlying causes of their diseases.
Develop new diagnostictools and treatments and
ultimately improvepatient outcomes. Biobanks
typically collectsamples from individuals
with rare diseases andtheir families as well.
As well as healthyindividuals for comparison, the
samples are carefullystored and labelled, and the
associated data such asmedical histories, genetic
information and demographicsare recorded in a database.
(09:04):
Biobanks are critical foradvancing rare disease
research becausethey provide researchers
with access to a largenumber of rare disease
samples, which wouldbe difficult to obtain.
On an individual basis, theyalso help us to standardise sample
collection and data recordingwhich makes it easier to compare
data from different studiesand identify commonalities and
differences between rarediseases. We'll drop a link in the.
(09:25):
Notes a new studydiscovers over 800 genes
causing 60 rare geneticdisorders, and over 5500
individuals, highlightingthe need for increased
research participation forunderrepresented group.
The study is called decipheringdevelopmental disorders,
and it looked at 5500people in the UK and Ireland.
They found that over 800 geneswere involved in causing about 60
(09:49):
conditions, with three quarterscaused by spontaneous mutation.
This research can behelpful to doctors to make
faster and more accuratediagnosis for people
with these conditions.The study also found
that families of nonEuropean ancestry had lower
chances of getting acorrect diagnosis, spotlighting
the need for increasedresearch, participation
from underrepresentedgroups by encouraging
participation from peopleof diverse ethnicities.
(10:13):
And economic backgrounds inresearch, scientists can gain a better
understanding of how these factorsare related or may interplay, and this will
hopefully lead to better diagnosticand treatment options. This underscores
the importance of events likeadira, the equality and diversity and.
Search association cheque out episode 15 Formore information on Adira. This next piece
(10:33):
of news is kind of bonkers, but I'm expectingthere's probably a good reason for this.
AstraZeneca drops and $855 milliondrug AstraZeneca, a drug company,
obviously has abandoned a raredisease drug candidate worth 855.
Million U.S. dollars after phasetwo trials failed. The drug was
originally successful in a largerphase three trial, but the company
(10:55):
found out that it didn't workas well as they had thought. The
drug was meant to eliminatecopper from the body in patients with.
'S disease. But thephase two trials didn't
show that it did thatthe company decided it
would take too long todevelop the drug further
and has decided tostop investing in it.
Upcoming conferences. Yay. I know alot of folks listening, probably do attend
(11:16):
conferences, whether they attend themin person or online. If this isn't you.
Don't worry, it's a quick segment.
All round Michael Guy DanielDefabio will be at the bio Boston
Conference screening five of yourrare disease films at the conference.
Follow Daniel on Instagramat instagram.com/disorder rare
disease films. Incidentally,Bio Boston is also on the
(11:37):
dazzle of Rare communitycalendar that we mentioned
earlier. If you're not alreadysubscribed to the calendar.
Please do so now get in touchadding your community events of
interest can only benefit you.So what are you waiting for?
Visit dazzlefora.net, which at the timeof recording is down for maintenance
but should be up soon if not reachout to me. Info is still in the show note.
(12:03):
Next up we have kale gene therapyhelp children walk. So if you are not
familiar with the condition Duchennemuscular dystrophy or DMD, it's a
genetic disorder that leads tomuscle degeneration resulting in young
patients like the child in this storyneeding to use a wheelchair full time.
Sorry about the age.
Ten. However, in this case with gene therapyfrom Pfizer, which is hopefully due to
(12:27):
be approved either this month or next,the FDA or Food and Drug Administration is.
To be releasing this drug and thefuture looks bright for children like
this little boy. The first patient ConnorKieran, underwent the treatment.
Five years ago.
This treatment triggers cells to producedystrophin protein, which is essential
to muscle function and has since beenable to help Connor retain his mobility.
(12:50):
The gene therapy doesn't provide acure, but it does provide a meaningful
benefit for up to five years, givingboys the opportunity for a better life.
Now I say boys becauseaccording to Cedar
Sinai, DMD generallyaffects boys because of the
dystrophin gene whichis on the X chromosome.
Duchenne affects 12,000to 15,000 children in the US.
(13:11):
And 300,000 worldwide,it's usually genetic in
nature, passing downfrom a mother to a son.
As the gene sits on theX chromosome, as we've
just said, the diseaseis caused by a mutation
in the dystrophingene, which leads to the
inability to produceessential proteins needed
for muscle function without the dystrophinmuscles cannot repair themselves leading to.
The accumulation of damage overtimeat time of recording four companies are
(13:31):
currently developing gene therapiesfor decisions. The company's Sarepta
Therapeutics has a drug called SRP-9001,and it will be the first to be considered
by the FDA on the 12th of May. So injust a few days, although gene therapy.
Is exciting long term prognosis remains unknown.
(13:52):
Certain each disease requires A distinctivegene therapy, and each company has their
own approach and their own timelines wherethere is still more work to do, significant
improvements have beenmade, with 50 treatments
currently in the drugdevelopment pipeline,
and that makes for a promising future,hopefully for children affected by Duchenne.
(14:15):
Last news item we have is solveRd, the H2020 funded flagship EU
project. Solve Rd is making stridestoward solving rare disease mysteries
where a molecular cause is not yetknown. They've achieved a successful
seed funding grant project wherethey've used zebra fish to confirm a.
MFRAMFR.
(14:37):
As a cause for hereditary******* paraplegia, you
can find more about thison their website, the ground
Breaking Project bringsall of us one step closer
to finding the answersneeded in rare diseases.
Learn more about solveRd and their ongoing efforts
at their website, whichis solve SOLV E-RD dot.
You and that's all she wrote folks for.
(15:00):
This TLDR, rare and relevant,and now for a bit of dazzle for rare
housekeeping. The dazzle for ourwebsite has been down for a few weeks.
In all honesty, I wasfrustrated at not finding any
WordPress templates that Iliked and decided to go back to
creating something more custombecause WordPress has changed
a lot since I did any customalterations or any website.
(15:21):
I'm in the process of getting the D4R 2023 registration back up on the
page. By the time you hear this episode,the page may be back up without the
registration function temporarily whileI add the support for the registration
process back into the website. Thisis usually fairly easy stuff to do and.
Warning excuses ahead, butwith Easter and the bank holidays
(15:42):
and the teachers strike andthe inset days and the King's
coronation amongst some otherpersonal things that have happened,
I haven't been able torestore the functionality just yet.
I do believe the newversion of the site, at
least aesthetically,will be much nicer. Also,
working on cleaning up the content and tryingto distil what dazzle for rare is about.
On that note.
If you are still unsure what Dazzle Ferrer actual.
(16:05):
Is I've been asking folks tohelp me out in terms of explaining
what the impact of reachingthe social networks of others is.
You'll know that content creators oftensay share my posts. It really helps me out,
but how does it help people out? Sobasically rare and associated organisations?
(16:26):
Team up with one anotherto get their message
out to more people. Wedo this by exchanging
messages. I usually sayTwitter friendly message
because Twitter hasbeen our biggest platform.
But who knows where it'll be this year?By working together, all of us can reach a
larger audience and get more attentionto our specific causes or our communities.
(16:47):
If there is a downside to sharing postswith each other and in good faith sharing,
you know theirs with your audience andvice versa, then someone pointed out to me.
We keep the event to one week sothat folks in our community and your
community aren't fatigued by hearingor seeing messages from others, but it's
a great way to help folks in yourcommunity by educating them on something
they may not know anything aboutor that may impact them in some way.
(17:14):
And that, you know, I'veheard from people over the
years that that has exactlybeen the case or that they
didn't think that therewas much understanding of
their condition outside oftheir Facebook community.
And then when they've seen people sharingabout it on during Dazzle Ferrer, they've
just been gobsmacked, which is great. Ilove receiving those types of messages, so.
When you reach people through someonessocial network, it's called social media
(17:37):
amplification. I like to call it signalboosting. That's why this is called signal.
Guys, it's like when you tell afriend something cool that you saw on
social media and they share it withtheir friends and so on and so forth.
Sometimes it picks up steamand becomes viral, and sometimes
it doesn't. By getting otherorganisations and influencers
quote unquote to share your content,where does these organisations
and associated organisationscan amplify these messages?
(18:03):
And reach a wider audience.I think that's also why it's
really important to put somecare into crafting your message,
because if you only have afew words to get across what
you're doing to a completestranger, you better make it count.
That's what I say. So thisidea can help build a community
of supporters and advocatewho care about rare disease in
general and who actually wantto share your messages and help
(18:23):
others by allowing you to reachtheir audience and vice versa.
You guys have all heard mesay that we need to stop preaching
to the choir. If you're notfamiliar with that turn of phrase.
Preaching to the choir,mean speaking to an audience
that already agrees withyou or is already aware of.
Issue in this case withrare disease organisations
or associated communitiesworking together on
(18:44):
social media. The goalis to reach new audiences
beyond the folks whoare already following them.
So rather than just speaking to thefolks who are already aware of the issue
or the issues in your community,you're reaching new people who may not.
Be aware by leveragingthe social media networks
of others rare disease andassociated organisations
can reach new people,build larger communities
(19:05):
of supporters who maynot have been aware of
before, and this can helpraise awareness for rare
diseases, can increasethe number of people who
are actively engaged inadvocating for improved
care, and help supportindividuals and families.
It's it's a novel conceptnow. There are some
historical examples ofmovements or causes that utilise.
(19:28):
Social networks to amplify their messageand build a larger community of supporters.
Because Tom from Myspace did not inventsocial network, they existed before Myspace.
So one example is thecivil rights movement. During
the 1960s, civil rightsactivists use a variety of
tactics to spread theirmessage and build support for
their cause, includingorganising rallies and protests.
(19:49):
Speaking at public events andworking with media outlets to get
coverage, they also leveragesocial media networks in person.
Building grassrootssupports for their cause by
working with localcommunities, churches and other.
The civil rights activists wereable to build a network of supporters
who could help spread the messageand mobilise others to take action.
Another example is the AIDSactivism movement during the
(20:11):
80s and 90s, activists in themovement used a variety of
tactics to raise awareness ofthe AIDS epidemic and advocate
for improved care and supportfor people living with HIV.
They also utilised social networks in person to connect others who were affected by.
Disease. There were alot of ways to share these
stories in these messages.It happened in magazines. It
happened in leaflets,people at social events talking
(20:32):
about it and peopleinviting each other to events.
You know, it's a powerfulthing to, you know, recruit the
people in your life to help.So by sharing these stories.
By organising events byworking with media outlets to get
coverage activists for the ORthe HIV AIDS community were able
to build a powerful network whowere passionate about fighting
(20:53):
for better care and supportfor people living with HIV.
These examples demonstrate thepower of social networks, not necessarily
social media social networks,to build grassroots support for.
Laws and amplify the message, and that'sexactly what dazzle Harare wants to do. By
leveraging the collectivereach of folks and
organisations andcauses, we can spread the
message to a wideraudience and build a
(21:13):
community of supporterswho are passionate about
rare disease andassociated conditions. So
that's what we're doing.I hope that made sense.
And I'm going to leave it to.
You thanks for joining me today.
(21:35):
Thanks for listening tothis week's episode of
Signalise, a Dazzlefor our podcast. To stay
up to date on thepodcast and Dazzle Frere,
follow us on Facebook,Instagram, and Twitter at.
DAZL.
E the number.
4 rare, RARE and finally if.
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So share it with a friend and tag us on social media platforms.
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