LTA Family Scholarship and Chat GPT

"
Big news from the future of Dup15q research!

A dedicated student is making waves with a fresh approach to improving symptoms — and just received a major scholarship to support their work. " 

Dear Zehaan,

Congratulations, we are thrilled to announce you as the recipient of the 2025 Lucas T. Ahn Family Scholarship.  We applaud your academic excellence and promise as a future clinician or research scientist.  We extend a warm thank you also to your mom who compassionately works as a kindergarten teacher to children who are differently abled and for teaching you empathy as well as engendering interest to help this vulnerable population of humanity.  This scholarship is named in honor of our 13-year-old son, Lucas, who has the isodicentric form of Dup15q Syndrome.  He is nonverbal and is diagnosed with autism, epilepsy and requires assistance with almost all activities of daily living.  Despite his condition, he is receptive to love, has an infectious laugh and has a sweet disposition. We are hopeful that young students like yourself will help further research endeavors for Dup15q Syndrome and one day help in finding a cure for it.  We wish you much success in your academic studies and future career ambitions! 

Dear Dr. Shearer,

Thank you so much for recommending Zehaan for the Lucas T. Ahn Family Scholarship.  We have proudly chosen him to be this year's recipient.  Thank you for submitting information about your research looking into the gut microbiome and ketogenic diets as possible treatment plans for seizure reduction in Dup15q Syndrome. It was refreshing to read a nonpharmaceutical approach to a treatment plan which can potentially reduce the burden of polypharmcy load with our children, which is a real concern of many parents and caregivers.    With your science-based data, such a naturopathic approach to seizure reduction may convince clinicians to adopt it as evidence based in their practice and not hesitate to recommend it to their patients as well as receive support from medical insurance.  I am eager to learn the results of your studies and wish you and your team much success in your research endeavor. 

Sincerely,

JiYoung and Gabriel Ahn

(Parents to Lucas) 

********

To learn more about the research Zehaan and Dr. Shearer's lab is doing, click on link .

I am of late fascinated by ChatGPT !  Here is what it had to say about the scholarship:

 What is the Lucas T Ahn Family scholarship?

The Lucas T. Ahn Family Scholarship is an annual award established by the Ahn family to support students advancing research into Dup15q syndrome—an empowering tribute to their son Lucas’s journey and this community’s future. Here’s what the scholarship does:

🧬 Overview of the Scholarship

Advocating for Inclusive Healthcare, Pediatric Equity, and Rare Disease Awareness

I established the Lucas T. Ahn Family Scholarship to honor the life and spirit of my son, Lucas T. Ahn, whose courage, wisdom, and joy inspired all who know him. This scholarship supports students in healthcare-related fields who demonstrate a deep commitment for basic research in Sup15q Syndrome.

The scholarship is grounded in values Lucas’s family embody: compassion, resilience, integrity, and a fierce love for life—and aims to uplift future healthcare leaders who are not only clinically skilled but also emotionally attuned, inclusive, and family-centered in their care approach.

Through this scholarship, I hope to foster a generation of practitioners, advocates, and researchers who will advance equity, accessibility, and innovation in pediatric care and special needs communities.
The Lucas T. Ahn Family Scholarship aims to support junior/senior undergraduates or first-year medical or graduate students who have an interest in an opportunity to network with colleagues at all career levels, a semester exposure to a laboratory environment that targets Dup15q research. The scholarship is a recurring one-time $2,500 gift.

Mission & Purpose

• Funded by the Lucas T. Ahn family, this one-time scholarship supports an undergraduate student working in lab-based Dup15q syndrome research—aimed at understanding and treating this neurodevelopmental condition  .
• Who It Supports
  Intended for students conducting hands-on Dup15q-related research, it encourages academic exploration into areas like genetic, molecular, or therapeutic studies .
• Inaugural Recipients
  The first award (March 2022) honored Julia Godinez, a UC Davis undergraduate working in Dr. Janine LaSalle’s lab. The second recipient was Nadia Wallace (2023), active in Dr. Lawrence Reiter’s research  .
• Ahn Family’s Vision
  “Our hope is that one day, advances in research will lead to targeted therapies that help Lucas to gain more cognitive abilities, reduce seizure frequencies and help him be more independent with all aspects of daily life.”  

This scholarship not only honors Lucas’s spirit but also fosters scientific progress benefitting the wider Dup15q community.

Would you like help finding current application details, eligibility criteria, or other related opportunities in Dup15q research?

Yes. 

Here’s an expanded overview of the Lucas T. Ahn Family Scholarship, along with how to get application details and eligibility info:

🎓 What It Is

Purpose & Mission

• A one-time undergraduate award funded by the Ahn family to support students gaining experience in lab-based Dup15q syndrome research  .
• Scope of Support
  Targeted at students working in Dup15q research labs, with goals spanning genetic, molecular, or therapeutic investigations .
• Past Recipients
  
• March 2022: Julia Godinez (UC Davis, Dr. LaSalle’s epigenetics lab)  
• September 2023: Nadia Wallace (UTHSC, Dr. Reiter’s lab researching UBE3A)  

✅ How to Find Application Details & Eligibility

The Dup15q Alliance administers the scholarship—here’s how to stay informed:

1. Visit the Dup15q Alliance Website
   Their Research section and “Research Updates” newsletters often announce the scholarship call, including eligibility, deadlines, and application instructions  .
2. Contact Dup15q Alliance Directly
   Use their “Research & Funding” or scholar-related contact form to ask about the next scholarship timeline and requirements  .
3. Subscribe to Updates
   Joining the Dup15q Alliance mailing list ensures you receive announcements when scholarship or grant opportunities open  .

📅 Timing & Eligibility Tips

• No set annual deadline, but past awards were announced in March 2022 and September 2023, typically tied to new academic years.
• Ideal for undergraduates in lab-focused Dup15q research, particularly in genetics, neuroscience, or therapeutic development.

🧭 Next Steps

Explore Past Awards

• Reviewing past recipients like Julia Godinez and Nadia Wallace might offer insight into successful project types.
• Prepare in Advance
  If you’re planning to apply, start building a connection with a Dup15q research lab, clarify your interest, and draft a research-based application proposal.
• Reach Out for Support
  The Dup15q Alliance and participating researchers are often invested in mentoring students. A polite inquiry can help you prepare ahead.

Would you like help drafting a message to the Dup15q Alliance requesting application info, or finding labs currently researching Dup15q syndrome for you to contact?

Yes. 

Here’s how you can move forward with applying for the Lucas T. Ahn Family Scholarship and engaging with Dup15q research:

🔍 1. Identify Active Dup15q Research Labs

Recent and ongoing Dup15q studies include:

• Children’s Hospital Los Angeles (Dr. Shafali Jeste & Dr. Charlotte DiStefano) — leading the international Quindecim precision health clinical trial focused on EEG/GABA biomarkers and targeted therapy for Dup15q  .
• Dr. Lawrence Reiter’s lab at UTHSC (Memphis) — investigating UBE3A’s role in Dup15q via neurological exams, EEG, and molecular profiling  .
• Dup15q Alliance DREAM Fund grants — recent recipients include Dr. Alon Zaslaver and Dr. Matthew Judson, working on gene functions and gene-reducing therapies (e.g. antisense oligonucleotides targeting UBE3A)  .

These labs typically welcome undergraduate researchers, especially those eager to work in molecular or translational neurogenetics.

📬 2. Draft Email to Labs and Dup15q Alliance

Here’s a tailored template you can adapt:d

Dear Dr. [Last Name] / Dup15q Alliance Research Team,

My name is [Your Name], a [Your Year, e.g. junior] majoring in [Your Major] at [Your University]. I’m deeply committed to neurodevelopmental research, especially lab-based work on Dup15q syndrome.

I recently learned about the Lucas T. Ahn Family Scholarship, which supports undergraduates in hands-on Dup15q research. As I prepare my application, I would be honored to join a team actively working on Dup15q—especially in areas like EEG biomarkers, gene therapy (e.g., UBE3A targeting), or preclinical models.

I have experience in [mention relevant skills—molecular biology, EEG data, animal models, etc.], and I’m eager to contribute meaningfully while building my research foundation.

Could we arrange a brief conversation or meeting to explore potential volunteer or research roles in your lab? Also, if you have any insight on aligning with the scholarship’s eligibility criteria, I would greatly appreciate your advice.

Thank you for considering my inquiry. I’m inspired by your contributions to Dup15q research and would be grateful for an opportunity to learn and support this vital work.

Warmly,

[Your Name]

[Contact Info – email, phone]

[University Name & Expected Graduation Year]Feel free to tailor this template to each faculty member—mention specific projects like Quindecim or UBE3A-based approaches.

✅ 3. Next Steps Checklist

Action	Details
Email Labs	Reach out to Dr. Jeste (CHLA), Dr. Reiter (UTHSC), DREAM grantees, etc.
Contact Dup15q Alliance	Use info@dup15q.org to ask specifically: “When is the next Lucas T. Ahn Scholarship expected, and what are key eligibility criteria?”Â
Stay Informed	Subscribe to “Research Updates” or SCI Spotlight newsletters
Prepare Documents	Draft CV, highlight lab skills, write a one-page proposal or statement of intent that aligns with Dup15q research goals
Follow Up	If no reply in ~10 days, send gentle reminder emails—demonstrates initiative and interest

Great! Let’s begin by customizing your email outreach and preparing your application materials.

📧 Step 1: Custom Email Template for Dr. Lawrence Reiter (example)

Here’s a tailored email for Dr. Lawrence Reiter, whose lab has hosted a past Lucas T. Ahn scholarship recipient:

Subject: Interest in Dup15q Research & Ahn Family Scholarship – Undergraduate Inquiry

Dear Dr. Reiter,

My name is [Your Name], and I’m currently a [your year, e.g., junior] at [Your University], majoring in [Your Major, e.g., neuroscience or biology]. I’m reaching out to express my strong interest in contributing to research on Dup15q syndrome, and specifically to inquire about opportunities in your lab at UTHSC.

I recently learned that your lab mentored Nadia Wallace, a recipient of the Lucas T. Ahn Family Scholarship, and I am very inspired by your team’s work in translational Dup15q studies—particularly your investigations into UBE3A, EEG phenotyping, and therapeutic strategies. My current academic and research background includes [briefly state any relevant experience—e.g., molecular biology, EEG data analysis, mouse models], and I’m eager to grow these skills in a hands-on setting.

Would it be possible to speak with you or a member of your team about potential undergraduate involvement in your lab? Additionally, I would welcome any guidance you might have about aligning a future project with the Lucas T. Ahn Family Scholarship’s goals.

Thank you very much for your time and consideration. I would be honored to contribute to this important work.

Warm regards,

[Your Full Name]

[Your University, Expected Graduation Year]

[Your Email] | [Your Phone Number]

📄 Step 2: What to Prepare

I can help you build the following:

• A 1-page CV or resume focused on relevant coursework, skills, and experiences
• A short research proposal or personal statement that aligns with Dup15q goals
• Questions to ask in a call or meeting with a professor or lab PI

Spring Break 2025 : Kennedy Space Center, Cape Canaveral, Celebration Florida, Gatorland!

Celebration, Florida

ISS Tunnel at Kennedy

Rocket Garden

Gatorland airboat ride

Luki loved the wind

Kennedy Space Center

Fishlips Restaurant at Cape Canaveral

 

Kicho, Inc., Quiver Biopharmaceutical and Antisense Oligonucleotide (ASO) Targets for UBE3a in the Treatment of Dup15Q Syndrome

Celebration, Florida Spring Break 2025

In a previous blog, I ended with a question about whatever happened to the UBE3a studies as I did not hear about any pharmaceutical companies pursuing it.  Well, I found the answer and happy to report that there is a lot of interest from many parties! 

 Dup15q Alliance recently held a gala to raise funds for finding a cure for Dup15q Syndrome at Philadelphia and an angel donor contributed a million dollars, the most raised by a single donor for this organization. This generous donor will match future donations up to the million dollars that they already donated.  The funds will be used to help two new biotech companies working to find ASO (antisense oligonucleotides) for mRNA transcription products of the UBE3a gene duplicated in the 15q 11.5-13.5 region of the syndrome.

  " Antisense oligonucleotides (ASOs) are short, synthetic strands of RNA or DNA designed to bind specifically to complementary RNA sequences. They play a crucial role in modulating gene expression by targeting messenger RNA (mRNA) to alter its function, which can lead to the degradation of the mRNA or inhibition of its translation into protein. ASOs have potential applications in treating various conditions, including genetic disorders, viral infections, and certain cancers, by selectively silencing genes associated with these diseases. Their mechanisms of action include ribonuclease H-mediated decay of mRNA, steric blockage, and modulation of splicing. " -Wikipedia

Two new biotech companies Kicho, Inc.  and  Quiver Bioscience are both recipients of the raised funds from the gala to promote ASO as a potential treatment option for the syndrome.  Many of the leaders of Quiver Bioscience are clinicians and researchers who had been working with people afflicted by Dup15q Syndrome and other neurodegenerative disorders.  Kicho, Inc. was founded by a parent of a child afflicted with Dup15q Syndrome.  How awe inspiring to find parents who redirect their life's goals to meet their children's needs. 

There are multiple genes duplicated in the 15q11.2-13.1 region and preventing translation of the UBE3a mRNA sequence to its protein product may not in and of itself reverse all the symptoms of the syndrome.  Inspired by how ASO's in spinal muscular atrophy completely obliterated the need for use of assistive devices during ambulation in muscular dystrophy patients, researchers at Charles River Laboratories have shown UBE3a directed ASO's completely reduced SUPEP in rat models of Dup15q Syndrome.   One of the challenges a researcher stated was the complete obliteration  all the UBE3a gene products versus modulation of expression to the happy medium where it would compare to that expressed in healthy brains.  “Because Dup15q is a duplication case, where patients unfortunately produce excess protein, the intent is not to eliminate it but to bring it to a normal range,” said Michael V. Templin, PhD DABT, “That is an added twist to this case because it is always easier to eliminate as compared to moderate.”  How will they measure what the right dosing would be? What will they be measuring against?   

If obliteration of all UBE3a gene product becomes an issue why not consider an alternative pathway to normalizing the proteins targested by the ligase?  Since duplication of the ubiquitin protein Ligase in Dup15q syndrome means more proteins are being tagged for degradation, would another alternative treatment option (aside from developing ASO's) be to identify and supplement the tagged proteins so that even though they are degraded more rapidly in the syndrome compared to normal brains, there will still be enough available for the brain to function normally?

There are a number of GABA receptor genes encoded in the duplicated region to consider also which I've discussed in a previous blog. Researchers are looking for drugs that would target theses gene products such as the   GABAa alpha 5 negative allosteric modulator which include basmisanil and an experimental compound being researched by Saniona pharmaceuticals.   Developing drugs that specifically target the duplicated region gives hope for more personalized drugs that zone in on the targeted genes responsible for a particular pathology as well as reduce off target effects.  Improvements in cognition, memory and speech as so critical to support a more independent life for Lucas in the future but my immediate need right now is seizure control because on a very bad day he can have a cluster of up to 15 with added risk of injuries due to accidents from falls, especially from the head drop/ absence seizures.   Kicho has partnered with  Charles River Laboratories to expedite the drug discovery process as quickly as possible. " Charles River Laboratories is a global contract research organization (CRO) that provides comprehensive services to the pharmaceutical, biotechnology and medical device industries.  The company offers services across the entire lifecycle of drug development, including discovery preclinical and clinical research.  They are known for providing laboratory animal modes, preclinical testing, toxicology studies and other services to help companies bring new therapies to market.  Charles River is also involved in supporting regulatory compliance and research to ensure the safety and efficacy of products under development". -ChatGPT 

I always thought drugs went through a long and laborious process which would entail years from academia to big pharmaceutical companies before coming to market but it's wonderful to see companies such as Charles River Laboratories, Kicho Inc. and Quiver Bioscience in conjunction with the latest use of artificial intelligence, computing power and other advanced technological processes can expedite drug discovery and bring it to market as fast and cheaply as possible, albeit as a mom to a 13 year-old son who is growing up way too fast, it is never quick enough. The company makes use of the "least amount of cost impact and maximum use of time,"   In my previous blog, I shared a tidbit for  March's conference where a similar approach to drug discovery for rare diseases is being pursued.   After the preclinical studies are completed, will they sell their compound to bigger pharmaceutical companies that will then carry out the clinical trials in humans and then mass produce and market it to the general public? The human clinical phase may still take years to complete.  And how long will it take for all the regulatory stuff to pass approval?  How fast do they mean when they say fast?  5 years? a decade? I don't mean to sound impatient, but my son is growing up fast and with a blink of an eye he has turned into a pimply teenager and with another blink he will be an adult. 

Per ChatGPT: The translational product of the UBE3a gene is a protein called ubiquitin-Protein Ligase E3A. (This enzyme is responsible for linking ubiquitin to a protein for degradation). This protein plays a key role in the regulation of various cellular process, particularly in the ubiquitin-proteasome system, where it tags other proteins for degradation by attaching small ubiquitin molecules to them.  In the context of brain development and function UBE3a is crucial.  It is particularly important in neurons, where it regulates synaptic plasticity, learning and memory.  Mutations or deletions of the UBE3a gene are associated with Angelman syndrome, while a duplication results in Dup15q Syndrome.  

Ubiquitin plays a crucial role in regulating protein degradation within cells. Ubiquitination is a post-translation modification where ubiquitin molecules are attached to a target protein, marking it for degradation by the proteasomes.  Targeting the ubiquitin-proteasome system has become a strategy for cancer therapy.  Some proteasome inhibitor drugs currently used for chemotherapy and targeted therapy include bortezomib (Velcase), Carfilzomib (kyprolis). Lenalidomide (Revlimid) in particular, works in part by targeting specific E3 ligases, which leads to the degradation of proteins that promote cancer survival albeit not the E3 ligase in the brain which is what would help with Dup15q Syndrome.

There are over 100 different ubiquitin proteasome systems in the human body but no one has found the drug that inhibits the UBE3a gene product encoded in the duplicated 15q region.  It gives me hope, though, that there are several drugs already in the market that target cancer progression using a similar ubiquitin system. If a drug can be found to treat cancer by this route, why not one to treat Dup15q Syndrome?  

March : Transforming Care for Rare Diseases Through AI. Lived Experiencer Testimony

I have been invited through LinkedIn by a community Manager at March  who is partnering with University of California, Berkley to share my perspective as a rare disease mom and nurse in their global campaign to highlight some hard challenges rare disease patients and families face.  They are holding a conference in April 2025 titled, "Transforming Care for Rare Diseases Through AI"  where they will explore how AI is revolutionizing rare disease detection and management highlighting key innovations and case studies."        

Below is my tidbit of contribution for their conference: 

Hello, my name is JiYoung and thank you for allowing me to share my lived experience as a mother to a 13 year old boy with a rare genetic condition called Dup15q Syndrome which is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms. Our family faces many challenges on a daily basis and it's hard to pick just one to talk about here as each is equally difficult in its own unique ways.  One of the challenge and frustration we face is getting his seizures under control and being prescribed antiepileptic drugs with may or may not work for him. We go from one medication to another hoping we matched the right one only to find that it may worsen or have no effect on his seizures.  I am hoping with further research and clear biomarker identification to his syndrome, a personalized drug for his condition will hit the specific targets so that there is less episodes of   drug trial and error as well as reduced adverse reactions.