2024-10-31 Clinical Research Data Sharing Alliance (CRDSA) published two new standards earlier this year: the Standard for Sharing Clinical Study Data and the Standard for Secondary Analysis of Clinical Study Data.We held a great discussion on how these standards aim to facilitate the responsible sharing and use of anonymized individual patient data from clinical studies to support the research community and accelerate the discovery and delivery of new therapies to patients. Data Reuse in Regulatory Submissions: The Role of Data Platforms resource was discussed during the live session as well.You can join TGIF-DTRA Sessions live on LinkedIn Live Audio on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.
November 4, 2024
STUDIES AND A TRIAL
FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/
PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/
Science:
Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/
Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/
Conference - Conference is 1 month away!
Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner
RESEARCH UPDATE
There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.
https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long
FUNDRAISING
- Coast2Coast Challenge $92,754 Syngap.Fund/C2C
- Missense Account of the Fund $25,940
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
- Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/
ZOOM BACKGROUND
https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
FUNDRAISE
https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
SOCIAL MATTERS
- 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 153 of #Syngap10
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
November 2, 2024
Rune Labs leverages real-world data and digital biomarkers to revolutionize the treatment of neurodegenerative diseases like Parkinson's, enabling personalized and data-driven care.
October 29, 2024
Unexpectedly, a physician's journey of caring for her father with Alzheimer's disease leads to groundbreaking insights. From reversing cognitive decline to the impact of emotional trauma, Dr. Helena Popovic shares a wealth of evidence-based strategies for caregivers. Her unique blend of personal experience and scientific knowledge sheds light on effective coping strategies and self-care techniques for those caring for individuals with Alzheimer's. Get ready to dive into a treasure trove of information, humor, and wisdom, as Dr. Popovic reveals the power of joy, gratitude, and holistic well-being in the face of Alzheimer's disease.
Quotes
"The human brain is continually altering its function, cell number, circuitry, and chemistry as a direct result of everything we do, experience, think and believe. This is called neuroplasticity." - Helena Popovic
"The most important thing I could give him would be genuine joy, love, enthusiasm. So just looking after ourselves is just in itself already looking after the other person." - Helena Popovic
"The greatest gift that we can give to the people we care about are our life force, our energy, our enthusiasm, our passion." - Helena Popovic
In this episode, you will:
Discover effective coping strategies to ease the challenges of caring for someone with Alzheimer's.Learn about potential methods to slow down or reverse cognitive decline in Alzheimer's patients.Explore the impact of emotional trauma on the risk of developing Alzheimer's and how to mitigate its effects.Uncover self-care techniques to maintain your well-being while caring for a loved one with Alzheimer's.Understand the benefits of practicing gratitude for your mental health and overall resilience.
Purchase "In Search of My Father"
Connect with Dr. Helena Popovic
Facebook
Instagram
YouTube
LinkedIn
About the Podcast
AlzAuthors is the global community of authors writing about Alzheimer’s and dementia from personal experience to light the way for others.
Our podcast introduces you to our authors who share their stories and insights to provide knowledge, comfort, and support. Please subscribe so you don’t miss a word. If our authors’ stories move you, please leave a review. And don’t forget to share our podcast with family and friends on their own dementia journeys.
We are a 501(c)(3) charitable organization totally reliant on donations to do what we do. Your generosity will help cover our many operating costs, which include website hosting and maintenance fees, service charges to keep things running smoothly, and marketing expenses to promote our authors, expand our content, improve our reach, and more. Our ongoing work supports our mission to lift the silence and stigma of Alzheimer’s and other dementias. To sustain our efforts please donate here.
Ideas and opinions expressed in this podcast belong to the speakers and not AlzAuthors. Always consult your healthcare provider and legal and financial consultants for advice on any of the topics covered here.
Thanks for listening.
We are a Whole Care Network Featured Podcast
Proud to be on The Health Podcast Network
Find us on The World Podcast Network and babyboomer.org
Want to be on the podcast? Here’s what you need to know
We’ve got merch! Shop our Store
October 29, 2024
In this episode of Solving Healthcare, Dr. K explores essential strategies for better sleep. He covers how meal timing and food choices impact rest, the importance of reducing evening blue light exposure, and the role of sleep-supporting supplements like magnesium. He highlights the benefits of consistent sleep routines and shares tips for creating a sleep-friendly environment, empowering listeners to optimize their sleep for improved energy, mood, and overall well-being.Listen now on Apple & SpotifySPONSORBetterHelp is the largest online counseling platform worldwide. They change the way people get help with facing life's challenges by providing convenient, discreet and affordable access to a licensed therapist. BetterHelp makes professional counselling available anytime, anywhere, through a computer, tablet or smartphone.Sign up HERE for 10% off | Use discount code “solvinghealthcare”OFFERSGYATA NUTRITIONGyata Nutrition is now live! Founded by Dr. Kwadwo Kyeremanteng, Gyata Nutrition offers top-quality supplements, including New Zealand Whey Protein Isolate, Collagen, Magnesium, and Fish Oil—all Health Canada-approved.Get your Gyata Strong Bundle and save 50%Visit gyatanutrition.com and use promo code kwadcast15 to save on your order now!LMNTWe're excited to announce our partnership with LMNT, a pioneer in superior hydration solutions. The key to proper hydration isn't just water—it's water plus electrolytes. This balance is vital to avoid issues like muscle cramps and energy dips, often caused by the dilution of electrolyte levels from excessive water intake, a condition known as hyponatremia.Enter LMNT, an electrolyte drink mix that's tasty, convenient, and free from sugar or artificial additives. Co-created by Robb Wolf and Luis Villasenor, LMNT provides optimal ratios of sodium, potassium, and magnesium, ensuring not only health and performance benefits but also a delightful taste experience with flavours like Orange Salt, Citrus Salt, and the new Watermelon Salt.To celebrate our partnership, we're offering you a free sample pack.Simply visit DrinkLMNT.com/kwadcast and start your journey to better hydration. LMNT stands behind their product with a no-questions-asked refund policy.Together with LMNT, we're redefining hydration. Remember, it's not just about water—it's about water PLUS electrolytes. Stay hydrated, and stay healthy!LMNTEXAMINE.COMBest source for evidence based nutrition and supplement information.Exclusive Offer for Kwadcast FollowersWe are thrilled to roll out a special offer exclusively for the subscribers of Kwadcast.substack.com, made possible by our new partnership:* 7-Day Free Trial: Start your journey with Examine.com with no strings attached. Explore their exhaustive resources and see how they can aid in meeting your health and wellness objectives.* Discounted Subscription Plans: Enjoy a special discount on Examine.com’s membership, tailored just for you:* Monthly Subscription: Originally $29, now just $25 — a saving of 14%.* Yearly Subscription: Typically $198, now only $171 — saving you 14% as well.Get Your Discounted AccessReady to dive in? Simply use this special link to access these exclusive discounts. The link will direct you to a sign-up page where your discounts will be automatically applied at checkout.Discount LINK for Examine.comSolving Healthcare Media with Dr. Kwadwo Kyeremanteng is a reader-supported publication. To receive new posts and support my work, consider becoming a free or paid subscriber.Thanks for reading Solving Healthcare Media with Dr. Kwadwo Kyeremanteng! This post is public so feel free to share it. This is a public episode. If you’d like to discuss this with other subscribers or get access to bonus episodes, visit kwadcast.substack.com/subscribe
October 29, 2024
Welcome back, friends! In this exciting and insightful episode, we dive deep into the fascinating world of physical therapy with the help of renowned expert Mike Reinold. We tackle the challenges of finding a quality physical therapist, evaluating the benefits of various types of therapy practices from large corporate chains to small community-focused clinics, and understanding the importance of one-on-one, personalized care. We explore misconceptions about cost, the significance of hands-on treatments, and the crucial role of repetition and communication in achieving superior health outcomes. We also dig into the necessity of educating patients, setting goals, and continuously assessing progress for sustainable, long-term improvement. Whether you're looking for quality care, contemplating cash-based models, or seeking advice on how to choose the right therapist for your specific needs, this episode has got you covered. Join us as we empower you with the knowledge to navigate your physical therapy journey and reap the benefits of truly tailored treatment. Thanks for tuning in!
Please sign up for our SUBSTACK
For more episodes, limited edition merch, to send us direct messages, and more, follow this link!
Connect with us:
Website: https://yourdoctorfriendspodcast.com/
Email us at
[email protected]
@your_doctor_friends on Instagram - Send/DM us a voice memo or question and we might play it/answer it on the show or on socials!
@yourdoctorfriendspodcast1013 on YouTube
@JeremyAllandMD on Instagram, Facebook, and Twitter/X
@JuliaBrueneMD on Instagram
EPISODE:
00:00 Introduction: The Importance of Finding Good Physical Therapy
00:00 Personal Anecdote: The Struggle to Find Quality Care
00:36 The Challenge of Identifying Good Physical Therapy
01:35 Podcast Episode Announcement
02:07 Introducing Mike Reinald: Expert in Physical Therapy
02:16 Mike Reinald's Background and Experience
03:10 What Constitutes Good Physical Therapy?
05:29 The Role of Word of Mouth in Finding Quality PT
06:34 In-Clinic Experience: What to Expect
07:04 The Importance of Hands-On Time
07:34 Balancing PT and PTA Roles
09:03 Clinic Environment and Equipment
10:04 Challenges in High-Volume Clinics
11:43 Business Models: Corporate vs. Small Practices
14:15 The Benefits of Concierge-Based PT
16:11 Scheduling Flexibility and Individualized Care
17:11 Hands-On vs. Passive Treatments
18:46 Short-Term Relief and Initial Treatment
19:13 Progressing Exercises for Long-Term Improvement
19:35 Importance of Compliance and Accountability
20:15 Finding and Addressing the Root Cause
20:48 Repetition and Habit Building
21:55 Effective Communication and Patient Education
23:04 Evaluating Physical Therapy Effectiveness
24:12 The Role of Physical Therapists and Physicians
28:31 Choosing the Right Physical Therapist
31:22 Final Thoughts and Key Takeaways
October 29, 2024
Anterior is transforming healthcare with AI that understands clinical jargon, delivering value by automating administrative tasks like prior authorization that cost over $1 trillion annually.
October 23, 2024
Tuesday, October 22, 2024
First Principles
Genetic disease means that gene broken since conception.
Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.
These are delivered via spinal tap or directly to the brain in leading medical centers.
First though, regulators must approve.
Our job
Develop medicines or get industry to - This is happening see Pipeline
Get regulators to approve trials
Get medical centers up to speed on SYNGAP1-Related Disorders (SRD)
What we are building on
CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/
Rare-X platform for PRO collection
Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.
What we are asking for
We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)
Make your largest gift ever to SRF
Fundraise with friends and family
ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.
Key slides: S1 Path to Treatment | 2024 (09.27.24)
1. Why Now? Why is it time to go from bench to bedside (research to clinical)?
At least 10 companies on our pipeline not to mention multiple small molecule efforts
We have limited resources – so the focus has to transition, clinical funding first.
CHOP Gift is 1 year down…
2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105
FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up)
Learn what to measure in clinical trials for SRD, remember our seizures are challenging
Ideally we develop a Synthetic Control Arm if we use GCP
Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians.
3. Why Multidisciplinary.
Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.
Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.
4. Why Multisite/3 sites?Replicable/scalable required by regulators
Accessibility (not primary reason)
Establish more locations where trials will be managed
Laying a foundation for a national self-sustaining network
3 is the minimum, look at STARR or Angelman, both had/ve 4.
5. How and why so fast?
Because we can. Time is Brain.
Following a well trodden path
SMA, Rett, Angelman, Dravet, but we are moving FASTER.
6. Does the industry really care?
We are next there are so so many behind us, eager to take the resources we have access to today.
Market size (Per our Census 425 US/1500 global is tip of iceberg)
Multiple players reassuring each other
Relatively strong amount of scientific and clinical research
Haploinsufficiency (like Dravet – STOKE) – so relatively easy
7. Expensive?
No. Clinical Research is more expensive than basic scientific research.
Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials.
It’s time.
8. Why Bother/Help?
Now is the time for SYNGAP1, we miss it at our peril.
Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.
Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.
If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask.
9. What can I do?
Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical
$500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.
This requ
October 22, 2024
In this episode of Solving Healthcare, we're joined by Hailey Hechtman from Unsinkable. Unsinkable is dedicated to supporting mental health through programs like their storytelling initiative, youth peer support, and an entrepreneurs program. The organization highlights the impact of storytelling in fostering connection and offering mental health resources. Hailey shares how Unsinkable's community-driven efforts are bridging the gap between those struggling with mental health and the path to recovery and well-being.Listen now on Apple & SpotifySPONSORBetterHelp is the largest online counseling platform worldwide. They change the way people get help with facing life's challenges by providing convenient, discreet and affordable access to a licensed therapist. BetterHelp makes professional counselling available anytime, anywhere, through a computer, tablet or smartphone.Sign up HERE for 10% off | Use discount code “solvinghealthcare”OFFERSGYATA NUTRITIONGyata Nutrition is now live! Founded by Dr. Kwadwo Kyeremanteng, Gyata Nutrition offers top-quality supplements, including New Zealand Whey Protein Isolate, Collagen, Magnesium, and Fish Oil—all Health Canada-approved.Get your Gyata Strong Bundle and save 50%Visit gyatanutrition.com and use promo code kwadcast15 to save on your order now!LMNTWe're excited to announce our partnership with LMNT, a pioneer in superior hydration solutions. The key to proper hydration isn't just water—it's water plus electrolytes. This balance is vital to avoid issues like muscle cramps and energy dips, often caused by the dilution of electrolyte levels from excessive water intake, a condition known as hyponatremia.Enter LMNT, an electrolyte drink mix that's tasty, convenient, and free from sugar or artificial additives. Co-created by Robb Wolf and Luis Villasenor, LMNT provides optimal ratios of sodium, potassium, and magnesium, ensuring not only health and performance benefits but also a delightful taste experience with flavours like Orange Salt, Citrus Salt, and the new Watermelon Salt.To celebrate our partnership, we're offering you a free sample pack.Simply visit DrinkLMNT.com/kwadcast and start your journey to better hydration. LMNT stands behind their product with a no-questions-asked refund policy.Together with LMNT, we're redefining hydration. Remember, it's not just about water—it's about water PLUS electrolytes. Stay hydrated, and stay healthy!LMNTEXAMINE.COMBest source for evidence based nutrition and supplement information.Exclusive Offer for Kwadcast FollowersWe are thrilled to roll out a special offer exclusively for the subscribers of Kwadcast.substack.com, made possible by our new partnership:* 7-Day Free Trial: Start your journey with Examine.com with no strings attached. Explore their exhaustive resources and see how they can aid in meeting your health and wellness objectives.* Discounted Subscription Plans: Enjoy a special discount on Examine.com’s membership, tailored just for you:* Monthly Subscription: Originally $29, now just $25 — a saving of 14%.* Yearly Subscription: Typically $198, now only $171 — saving you 14% as well.Get Your Discounted AccessReady to dive in? Simply use this special link to access these exclusive discounts. The link will direct you to a sign-up page where your discounts will be automatically applied at checkout.Discount LINK for Examine.comThanks for reading Solving Healthcare Media with Dr. Kwadwo Kyeremanteng! This post is public so feel free to share it.Solving Healthcare Media with Dr. Kwadwo Kyeremanteng is a reader-supported publication. To receive new posts and support my work, consider becoming a free or paid subscriber. This is a public episode. If you’d like to discuss this with other subscribers or get access to bonus episodes, visit kwadcast.substack.com/subscribe
October 22, 2024
Insurance barriers can delay access to necessary medications. In this conversation, David shares his personal journey with osteoporosis, a condition often perceived as a women's disease, and the challenges he is encountering to get the medication he needs.
Key Takeaways
Men are risk for osteoporosis. It is not just a women's disease.
Be proactive: Routine screening for osteoporosis is not recommended for men. So, men with a family history of osteoporosis and/or fractures after minor trauma should proactively request a bone density text, call a DEXA scan
Always (always) request a copy of a healthcare denial letter. Don't just accept a verbal communication. Insurance companies are required to put every denial in writing and include the contractual reason for the denial.
Share your story with Archelle
Newsletter: https://www.archellemd.com/newsletter
Email:
[email protected]
Instagram: https://instagram.com/speakupforyourhealth
Facebook: https://www.facebook.com/speakupforyourhealth
October 22, 2024
Got protein on your mind? Join us for an in-depth, lively discussion on all things protein! Learn exactly how much you need based on your age and activity level, and steer clear of possible risks like kidney stones. We debunk myths, unveil marketing tricks like 'protein washing,' and provide practical tips for maintaining muscle and optimizing overall health. Utilize tools to track your intake and get the most from your diet. This episode is packed with information to get you excited about taking control of your protein intake! As always, consult your medical professional for personalized advice. Tune in now for an engaging and informative session!
Please sign up for our SUBSTACK
For more episodes, limited edition merch, to send us direct messages, and more, follow this link!
Connect with us:
Website: https://yourdoctorfriendspodcast.com/
Email us at
[email protected]
@your_doctor_friends on Instagram - Send/DM us a voice memo or question and we might play it/answer it on the show or on socials!
@yourdoctorfriendspodcast1013 on YouTube
@JeremyAllandMD on Instagram, Facebook, and Twitter/X
@JuliaBrueneMD on Instagram
00:00 Introduction and Listener's Question
00:56 Protein Hype and Marketing
02:13 Unpacking Protein Recommendations
03:42 Daily Protein Intake and RDA
08:46 Protein Needs for Older Adults
14:42 Protein Intake for Middle-Aged Adults
15:21 Protein Intake and Aging
15:39 Optimal Protein Intake for Middle-Aged Adults
16:37 Protein Needs for Younger Adults
18:59 Stratifying Protein Intake by Activity Level
19:55 Combining Age and Activity Recommendations
23:36 Practical Tips for Increasing Protein Intake
31:02 Final Thoughts and Listener Engagement
October 22, 2024
📝Full show notes: https://curesyngap1.org/podcasts/syngap10/
Census is at 1,497! Syngap.Fund/Census
Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox
- UFD Tech, $52,094
- Scramble, $28,000
Current Efforts:
- Coast2Coast Challenge $42,691 Syngap.Fund/C2C
- Missense Account of the Fund $23,684
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
- Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,173
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research
ONLINE SHOPPINGS
EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038
Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/
FRAZIER STUDY - Half enrolled!
https://Syngap.Fund/Eye2
[email protected]
CHOP is 1!
- 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA
- https://x.com/cureSYNGAP1/status/1843684785740255303
School and Behaviour
Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors
Do you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox
On the site
Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect
Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox
Syngap.Fund/InsWin Insurance with Sara Driscoll
Vicky & Merlina are unstoppable
SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W
Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP
Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe
Conference - Conference is 47 days away
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf
Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A
Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin
https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb
MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study
RESEARCH UPDATE
There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG…
https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
FUNDRAISE
https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024
#
October 18, 2024
Leveraging an AI-powered immune profiling platform, IMU Biosciences creates unprecedented insights into health and disease by measuring and analyzing the immune system at an unparalleled scale and resolution.
October 15, 2024
2024-10-10 Hosts Craig Lipset, Dr. Amir Kalali, and Jane Myles were joined by Matt Veatch and Aaron Kamauu, hosts of the Real World Wednesday's Club on Clubhouse. We joined forces for a TGIF-DTRA + RWW Crossover Episode! With the release of the FDA Draft Guidance on Integrating Randomized Controlled Trials for Drug and Biological Products Into Routine Clinical Practice, it was the perfect topic to bring together the DCT and RWE community for a conversation around this guidance. We discussed why this guidance was aligned to RWE, the distinctions between decentralized, pragmatic, point-of-care trials, and real-world evidence, and how RCTs and DCTs can drive access for all patients.Read the guidance here --> https://www.fda.gov/media/181871/downloadYou can join TGIF-DTRA Sessions live on LinkedIn Live Audio on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.
October 15, 2024
Have you heard these myths about faith's role in caregiving?
Myth 1: Faith won't make a difference in the practical challenges.Myth 2: Caregivers must be perfect in their faith to make a difference.Myth 3: Faith won't alleviate the emotional toll of caregiving.
Let's unravel them with our guest Dorothy Horne in this replay of Books & Chit Chat with Aging & Amazing. We touch on everything from clinical trials to the role of faith, and the power of community and positive narratives on the dementia journey.
Dorothy, a retired first-grade teacher and former columnist for a local newspaper, brings a unique perspective to the conversation as she shares her caregiving journey with her husband, Byron, who was diagnosed with early-onset Alzheimer's. Through her faith and resilience, Dorothy has found moments of grace and strength in the midst of the challenges of dementia caregiving. Her heartfelt reflections and personal experiences offer valuable insights into the role of faith in navigating the complexities of Alzheimer's and dementia, providing inspiration and support for others on similar paths. She has shared these insights in two books: Glimpses of Grace: Walking in Hope Through Alzheimer's and Ordinary Days and Glimpses of Grace: And Grace Will Lead Us Home.
In this episode, you will:
Explore the profound impact of faith in providing strength and comfort while navigating the challenges of dementia caregiving.Learn how to break free from the negative stereotypes and misconceptions surrounding an Alzheimer's or dementia diagnosis.Encounter the concept of “lightbearers” and how to become one.Discover the transformative power of community support in finding emotional resilience and practical assistance.Prepare for a positive and fulfilling life beyond caregiving by understanding the transition process and available resources
After the podcast
Read Dorothy’s AlzAuthors post
Purchase Glimpses of Grace: Walking in Hope Through Alzheimer's and Ordinary Days and Glimpses of Grace: And Grace Will Lead Us Home now.
Note: We are an Amazon Associate and may receive a small commission from book sales.
Connect with Dorothy
Website
Facebook
Twitter
LinkedIn
Mentions
Michael Verde's work - For those interested in Michael Verde's work and his insights on dementia care, you can explore his organization, Memory Bridge, and access his resources and speaking engagements.
About the Podcast
AlzAuthors is the global community of authors writing about Alzheimer’s and dementia from personal experience to light the way for others.
Our podcast introduces you to our authors who share their stories and insights to provide knowledge, comfort, and support. Please subscribe so you don’t miss a word. If our authors’ stories move you, please leave a review. And don’t forget to share our podcast with family and friends on their own dementia journeys.
We are a 501(c)(3) charitable organization totally reliant on donations to do what we do. Your generosity will help cover our many operating costs, which include website hosting and maintenance fees, service charges to keep things running smoothly, and marketing expenses to promote our authors, expand our content, improve our reach, and more. Our ongoing work supports our mission to lift the silence and stigma of Alzheimer’s and other dementias. To sustain our efforts please donate here.
Ideas and opinions expressed in this podcast belong to the speakers and not AlzAuthors. Always consult your healthcare provider and legal and financial consultants for advice on any of the topics covered here.
Thanks for listening.
We are a Whole Care Network Featured Podcast
Proud to be on The Health Podcast Network
Find us on The World Podcast Network and babyboomer.org
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October 15, 2024
In this amazing episode of Solving Healthcare, we're joined by Tim Rice, CEO of The Rounds. Tim introduces their collaborative network for physicians, emphasizing its role in overcoming geographical barriers and supporting physician well-being. The episode explores how this approach is reshaping healthcare delivery and professional collaboration.Listen now on Apple & SpotifySPONSORBetterHelp is the largest online counseling platform worldwide. They change the way people get help with facing life's challenges by providing convenient, discreet and affordable access to a licensed therapist. BetterHelp makes professional counselling available anytime, anywhere, through a computer, tablet or smartphone.Sign up HERE for 10% off | Use discount code “solvinghealthcare”OFFERSGYATA NUTRITIONGyata Nutrition is now live! Founded by Dr. Kwadwo Kyeremanteng, Gyata Nutrition offers top-quality supplements, including New Zealand Whey Protein Isolate, Collagen, Magnesium, and Fish Oil—all Health Canada-approved.Get your Gyata Strong Bundle and save 50%Visit gyatanutrition.com and use promo code kwadcast15 to save on your order now!LMNTWe're excited to announce our partnership with LMNT, a pioneer in superior hydration solutions. The key to proper hydration isn't just water—it's water plus electrolytes. This balance is vital to avoid issues like muscle cramps and energy dips, often caused by the dilution of electrolyte levels from excessive water intake, a condition known as hyponatremia.Enter LMNT, an electrolyte drink mix that's tasty, convenient, and free from sugar or artificial additives. Co-created by Robb Wolf and Luis Villasenor, LMNT provides optimal ratios of sodium, potassium, and magnesium, ensuring not only health and performance benefits but also a delightful taste experience with flavours like Orange Salt, Citrus Salt, and the new Watermelon Salt.To celebrate our partnership, we're offering you a free sample pack.Simply visit DrinkLMNT.com/kwadcast and start your journey to better hydration. LMNT stands behind their product with a no-questions-asked refund policy.Together with LMNT, we're redefining hydration. Remember, it's not just about water—it's about water PLUS electrolytes. Stay hydrated, and stay healthy!LMNTEXAMINE.COMBest source for evidence based nutrition and supplement information.Exclusive Offer for Kwadcast FollowersWe are thrilled to roll out a special offer exclusively for the subscribers of Kwadcast.substack.com, made possible by our new partnership:* 7-Day Free Trial: Start your journey with Examine.com with no strings attached. Explore their exhaustive resources and see how they can aid in meeting your health and wellness objectives.* Discounted Subscription Plans: Enjoy a special discount on Examine.com’s membership, tailored just for you:* Monthly Subscription: Originally $29, now just $25 — a saving of 14%.* Yearly Subscription: Typically $198, now only $171 — saving you 14% as well.Get Your Discounted AccessReady to dive in? Simply use this special link to access these exclusive discounts. The link will direct you to a sign-up page where your discounts will be automatically applied at checkout.Discount LINK for Examine.comSolving Healthcare Media with Dr. Kwadwo Kyeremanteng is a reader-supported publication. To receive new posts and support my work, consider becoming a free or paid subscriber.Thanks for reading Solving Healthcare Media with Dr. Kwadwo Kyeremanteng! This post is public so feel free to share it. This is a public episode. If you’d like to discuss this with other subscribers or get access to bonus episodes, visit kwadcast.substack.com/subscribe
October 15, 2024
Our Berlin Marathon Experience: A Life-Saving Moment
In this podcast episode, we share the incredible story of our friend, Dr. Eliza Pierko, a sports medicine physician. During her fifth marathon in Berlin, we were amazed to learn how she stopped at mile 21 to administer CPR to a fellow runner who suffered cardiac arrest. Despite this unexpected challenge, she resumed the race and achieved a personal best. We dive into this remarkable life-saving event, emphasizing the importance of CPR knowledge and highlighting Dr. Pierko's journey, including her recovery from a severe ankle injury. As hosts, we reflect on the heroic nature of Dr. Pierko's actions and encourage our listeners to learn CPR, showing that with the right training, any of us can save a life
Thanks for tuning in, friends!
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Website: https://yourdoctorfriendspodcast.com/
Email us at
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@your_doctor_friends on Instagram - Send/DM us a voice memo or question and we might play it/answer it on the show or on socials!
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@JuliaBrueneMD on Instagram
00:00 Introduction and Teaser
00:21 Meet Dr. Elisa Pierko
00:54 The Berlin Marathon Incident
02:08 Interview with Dr. Elisa Pierko
04:35 Dr. Pierko's Running Journey
07:32 The Day of the Marathon
09:37 The Emergency Response
12:31 Reflecting on the Experience
18:37 The Importance of Immediate CPR
19:32 Calling for Help and Team Coordination
20:47 Administering the Shock
22:10 Continuing the Marathon
22:44 Emotional Aftermath
25:28 Support from the Running Community
31:33 Reflecting on the Experience
33:30 Encouraging CPR Training
October 15, 2024
2024-10-11 Hosts Craig Lipset, Jane Myles, and Dr. Amir Kalali were joined by Donna O'Brien and Rachel Sher (Manatt) and how their work is expanding access and enrollment and driving innovation for clinical trials in academic centers.You can join TGIF-DTRA Sessions live on LinkedIn Live Audio on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.
October 14, 2024
Patients with rare conditions can often wait months or years for a diagnosis. In the meantime, they suffer – wondering if their symptoms are real or in their head. Marielle Lejcher had severe abdominal pain for 11 years before she found one very good doctor who took the time to put all the puzzle pieces together and ordered the right test.
Key Takeaways:
See a specialist. While you should generally start with your primary care physician, see a specialist if they aren't sure about your diagnosis or if your symptoms are getting worse despite treatment.
Self-refer to a specialist (if your PCP doesn't want to refer you). Today, most health insurance plans don't require a referral. So if your PCP doesn't recommend seeing someone else, self-refer. And if that specialist doesn't arrive at a definitive diagnosis, make an appointment with a specialist with different expertise.
Keep a journal. Write down the details about your symptoms. The details matter because a complex diagnosis is like a big puzzle, and the smallest detail can be the missing piece of information that helps the physician suspect an obscure condition.
Share your story with Archelle
Newsletter: https://www.archellemd.com/newsletter
Email:
[email protected]
Instagram: https://instagram.com/speakupforyourhealth
Facebook: https://www.facebook.com/speakupforyourhealth
October 11, 2024
Caring for a spouse with dementia is a deeply challenging and emotional journey. In this episode, hosts Marianne Sciucco and Christy Byrne Yates bring together three extraordinary guests: Richard Creighton (aka Frank Brown), Scott Rose, and Tio Stib (aka Stephen Miller), who share their personal experiences and hard-earned insights.
Richard Creighton shares his journey caring for his wife Kate, who is in the advanced stages of Alzheimer's. He discusses the daily routines that bring them joy and emphasizes the profound impact of kindness and community support. Richard blogs about their Alzheimer’s journey at Living with Alzheimer’s.com. Learn more about Richard at AlzAuthors.com.
Scott Rose opens up about the heartbreaking realization of his wife Maureen’s cognitive decline due to frontotemporal dementia. He chronicles their experience in his book We Danced: Our Story of Love and Dementia, and highlights the importance of maintaining dignity and understanding communication challenges. Learn more about Scott on AlzAuthors.com.
Tio Stib, who lost his sight around the same time his wife, Maria, was diagnosed with Alzheimer's, offers a unique perspective. He captures their poignant and humorous moments in his book My Dementia Diary: A blind caregiver’s journey with his wife and her dementia, and discusses the cultural differences in dementia care between Mexico and the U.S. Learn more about Tio at AlzAuthors.com.
After the podcast
Purchase We Danced: Our Story oove and Dementia
Purchase My Dementia Diary: A blind caregiver’s journey with his wife and her dementia
Note: We are an Amazon Associate and may receive a small commission from book sales.
Resources mentioned:
Judy Cornish, The Dawn Method
Lingraphica - A device that can help with communication for individuals with speech and language difficulties due to dementia.
Security Camera with Two-Way Speaker - A security camera with a two-way speaker can be used to communicate with a loved one who may have difficulty using traditional communication devices. It allows for verbal interaction and reassurance.
Children's Songs - Using familiar children's songs can help soothe and engage individuals with dementia, providing a sense of comfort and familiarity.
Love and Patience - The most important takeaway is the need for love, patience, and understanding when caring for a loved one with dementia. This includes being patient with family members and caregivers who may have different perspectives on the care process.
About the Podcast
AlzAuthors is the global community of authors writing about Alzheimer’s and dementia from personal experience to light the way for others.
Our podcast introduces you to our authors who share their stories and insights to provide knowledge, comfort, and support. Please subscribe so you don’t miss a word. If our authors’ stories move you, please leave a review. And don’t forget to share our podcast with family and friends on their own dementia journeys.
We are a 501(c)(3) charitable organization totally reliant on donations to do what we do. Your generosity will help cover our many operating costs, which include website hosting and maintenance fees, service charges to keep things running smoothly, and marketing expenses to promote our authors, expand our content, improve our reach, and more. Our ongoing work supports our mission to lift the silence and stigma of Alzheimer’s and other dementias. To sustain our efforts please donate here.
Ideas and opinions expressed in this podcast belong to the speakers and not AlzAuthors. Always consult your healthcare provider and legal and financial consultants for advice on any of the topics covered here.
Thanks for listening.
We are a Whole Care Network Featured Podcast
Proud to be on The Health Podcast Network
Find us on The World Podcast Network and babyboomer.org
Want to be on the podcast? Here’s what you need to know
We’ve got merch! Shop our Store
October 11, 2024