Our Story
Founded in 2020 by a group of parents seeking better answers for their children and families living with a KS diagnosis, IDefine is a nonprofit organization that exists to provide a central community for families affected by Kleefstra Syndrome (KS). We are here to share information, collaborate for advocacy, and pool resources to support life-changing treatment and intervention. We are committed to unlocking the potential of individuals living with Kleefstra syndrome.
IDefine’s global team has worked to build connections between our KS community and health professionals, inviting collaboration and fueling research for innovative treatments for those affected by this rare genetic condition.
We are intent on accelerating in research through investment and organization while simultaneously building medical expertise to further develop treatment options and care. We are working steadfastly towards a cure for Kleefstra Syndrome as well as other Intellectual Disabilities.
IDefine was created to bring about the future we know is possible for our children and others living with Intellectual Disabilities – a future in which the ones we love have the tools they need to define their own path. Our core values guide each action we take in our journey to living in this reality.
Our Mission
IDefine is a nonprofit organization dedicated to discovering life-changing treatments and cures for those with intellectual disabilities stemming from genetic disorders.
Kleefstra Syndrome is an excellent model system for drug development in the ID space:
- A single gene causes KS (EHMT1), and it has been extensively studied
- There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
- There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
- EHMT1 is involved in epigenetic regulation, an area of research that has seen substantial investment and drug development in the last decade
- Epigenetic regulation appears to be a key factor in multiple ID syndromes, so development of a treatment for KS may inform options for other syndromes
- There is a very active community of KS families, opening the door to clinical study recruitment when a potential therapy has been identified
Kleefstra Syndrome is an excellent model system for drug development in the ID space:
- A single gene causes KS (EHMT1), and it has been extensively studied
- There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
- There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
- EHMT1 is involved in epigenetic regulation, an area of research that has seen substantial investment and drug development in the last decade
- Epigenetic regulation appears to be a key factor in multiple ID syndromes, so development of a treatment for KS may inform options for other syndromes
- There is a very active community of KS families, opening the door to clinical study recruitment when a potential therapy has been identified
In consultation with our Scientific Advisory Board, we will pursue the most promising avenues for drug development, and “go where the science takes us”. A range of approaches are being reviewed, including small-molecule drug repurposing, small molecule drug development, oligonucleotide-based therapies, or gene therapies.
Our Team
Get to know our team members.
Board of Directors
Eric Scheeff, Chief Scientific Officer (CSO)
Eric, Isaac’s father, is a scientist and software professional with more than 20 years of experience
Eric Scheeff, Chief Scientific Officer (CSO)
Eric, Isaac’s father, is a scientist and software professional with more than 20 years of experience spanning molecular biology, bioinformatics, and genomics. He received his Ph.D. from the University of California San Diego (UCSD) and performed original research at UCSD and the Salk Institute. He has authored numerous research articles, many of which are highly cited in their fields, as well as several book chapters.
Eric pairs this rich scientific research background with substantial experience in the business world, including roles in product development, sales, and marketing. He has focused his career on delivering software solutions to researchers that help enable them to make the next round of scientific discoveries. He is currently the global Product Manager for Biological Interpretation at Illumina, the world’s leading genomics company. There he helps guide the development of Illumina’s software solutions for downstream interpretation of genomic data.
Eric happened to sit next to Darrick at the Kleefstra Syndrome family conference hosted by Kid’s IQ Project, and they hit it off immediately and exchanged phone numbers. Some months later Eric received a message from Darrick about the concept of IDefine. His simple reply was, “Sounds great. I’d like to get involved.” He is delighted that he can leverage his background to help this remarkable team develop a vigorous research program focused on finding new life-changing treatments.
Matt Lockwood
Matt, Wynne's father, is a public relations professional living in suburban Detroit. Matt recently joined the Board of IDefine in 2023 after serving, and continuing to serve, as the Communications Co-Chair.
Mason Harrell
Mason Harrell, Eleanor’s father, is a double board-certified physician in Occupational Medicine, and Public Health and General Preventive Medicine. Passionate about occupational health, Mason’s expertise has informed projects at Massachusetts Institute of Technology (MIT), the World Health Organization (WHO), American College of Occupational and Environmental Medicine (ACOEM), and MDGuidelines®. His original research on factors affecting workforce health have appeared in leading medical journals, and, as an active-duty Navy Lieutenant Commander, he currently teaches the U.S. Navy’s Occupational and Environmental Medicine Fundamentals Course that he created. His current COVID-19 Work includes lecturing over 1,500 medical, health, and safety professionals, creating policies and procedures, providing primary care, and directing contract tracing. In his spare time, Mason applies his medical training tirelessly in service of those needing advocates, volunteering with Physicians for Human Rights in addition to his role at IDefine.
IDefine’s mission of identifying treatments, funding research, and creating connections between families facing a KS diagnosis and healthcare professionals is a natural extension of Mason’s life’s work in medicine and advocacy.
In Mason’s Words:
Tell us about the person you love who was diagnosed with KS.
Eleanor, my daughter, has challenged me to revisit my purpose. Eleanor enjoys swinging, music, and learning to walk. I think she enjoys cuddles, or she just likes to see her father really happy. 🙂
When did your child receive a KS diagnosis?
1 year old.
What resources, outlets, communities were most helpful to you at that time?
Visiting Dr. Kleefstra and KS conference in Italy.
How has KS changed your life as a family?
I’ve focused on three opposing emotions that have turned me upside-down. (1) In order to maximize Eleanor’s benefits from Health Insurance and Government Programs, I’ve focused on the negative which has been very depressing, (2) Being a visionary, planner and a controller of my future I focus on the dream – finding a cure, and (3) Being a realist, not believing in magic, not knowing her future, and realistically accepting the likely scenario of a very difficult and painful road ahead, I try to focus on accepting Eleanor on who she is – not trying to change her, enjoying her presence of who she is now without distractions of who she could be.
Eleanor inspires us to be kinder than we have ever imagined.
What is your biggest hope for the future?
To never give up on finding a cure.
Andy Klump
Andy, Natalya’s father, is a co-founder and Board Member of IDefine and also co-founded KidsIQProject.org in 2015. In his professional life, he is a renewable energy executive with 25+ years of solar pv, energy storage and technology experience with 20 years operating in China. Andy is the Founder and CEO of Clean Energy Associates (CEA) www.cleanenergyassociates.com, a solar energy and storage engineering services firm established in 2008. Building on his previous professional experience working as an executive with international expansion, CEA has become a top clean energy services firm with over 250 professionals in 15 countries.
Andy holds a BA in Economics from Northwestern University and a Master of Business Administration from Harvard Business School. He speaks Mandarin with advanced business proficiency and resides in Bangkok, Thailand with his wife and four daughters. He is passionate about environment conservation and finding a drug development program for those with intellectual disabilities.
Leadership Team
Geoff Rhyne, CEO
Geoff, Ella’s father, is a co-founder and the CEO leading the effort at IDefine who was recently recognized as a 2021 RARE Champion of Hope.
Geoff Rhyne, CEO
Geoff Rhyne, Ella’s father, is the CEO and a co-founder of IDefine. Prior to taking on his current role in the nonprofit rare disease space, Geoff has been both a hospitality professional and entrepreneur. While working in the food and beverage industry, he co-founded a Slow Foods Chapter in Greenville, SC in 2006, and has been a featured speaker on sustainability at Furman University as well as at a TEDx conference in 2010. In 2014, Geoff hit on what would become his signature sauce and launched Red Clay Provisions. Since then, Red Clay has flourished through partnerships with major retailers and recognition from regional and national media outlets.
Geoff and his wife, a special education teacher and advocate, have two sons along with their youngest child, Ella. On February 26th, 2019, Geoff, and his wife experienced “diagnosis day” for their daughter. Ella was diagnosed with Kleefstra Syndrome, a rare genetic disorder. Instead of looking at it as a setback, Geoff viewed the diagnosis as an opportunity and purpose, feeling it was a call to duty.
Consulting with the other parents he met on his path to becoming his daughter’s greatest advocate, he and his team built a vision for IDefine to become an organization focused on improving treatment and, ultimately, finding cures for children and adults with Kleefstra Syndrome and other intellectual disabilities – a vision to change the world that has become his life’s work.
In Geoff’s Words:
Tell us about the person you love who was diagnosed with KS.
My daughter, Ella, is 2 years old and the motivation behind this work. She is determined, sweet, feisty, and silly. She absolutely adores her mother and tolerates her two older brothers and dad! Kidding aside, she is an absolute blessing for our family.
When did your child receive a KS diagnosis?
15 months
What resources, outlets, communities were most helpful to you at that time?
We worked with the Greenwood Genetic Center to get the diagnosis, and the team there, led by Dr. Roger Stevenson, is and was incredible. Visiting the team at Boston Children’s Hospital, and meeting Dr. Sid Srivastava, Kira Dies, and the rest of the team was incredibly motivating and hope inducing. Additionally, the KleefstraSyndrome.org Facebook page was a great find for my wife and I to establish connections with others in the KS family, and Hira with KIDS IQ has also been an unbelievable resource. For me, the unknown was challenging, but once we received the diagnosis, I had something specific to chase!
How has KS changed your life as a family?
I wouldn’t say we have changed as much as I would say we pivoted. My wife has been a special education teacher for 15 years, and my sister-in-law has Down’s Syndrome. We were built for this. This opportunity has provided me with an immense amount of purpose to change the world. Our family has focused on celebrating milestones, big or small, because our perspective has shifted to not take things for granted. We are kinder, more empathetic, and stronger. I love that my boys (4 and 6) will have inclusivity ingrained in the fabric of their being. We are embracing this journey and determined to realize positive outcomes!
What is your biggest hope for the future?
To solve the riddle and cure KS as well as intellectual disabilities as a whole that are derived from genetic disorders. I want to change the world.
Meredith Repik, Director of Development
Meredith leads our effort to strengthen and grow financial impact, volunteer engagement, and communications
Meredith Repik, Director of Development
Meredith has over 24 years experience in the nonprofit sector from the March of Dimes where she served as Community Director, Executive Director, State Director of Development and Director of Strategic Volunteer Partnerships.
Meredith hopes to meet many of you either virtually, in person, or by phone to help you see the impact your donations are making, help you achieve your personal fundraising goals and provide to you many ways to engage with IDefine.
Please feel free to reach out to her at any time! She is here for you, and to help IDefine achieve its mission of providing a community for families affected by Kleefstra Syndrome, to collaborate for advocacy and to pool resources to support life-changing treatment and intervention.
Margo Metzger, Co-Director of Communications
Margo, Adelind’s mother, is a communications consultant passionate about effective storytelling.
Margo Metzger, Co-Director of Communications
Margo joined the IDefine team in the summer of 2020 to lend her communications expertise and experience as an advocate for her daughter to further the mission of finding effective treatments and support for individuals and families living with KS.
In Margo’s Words:
Tell us about the person you love who was diagnosed with KS.
My daughter Adelind is the light of my life. She has never met a stranger, and she spreads joy all over the place. She is curious, loving, and pure of heart. Addie surprises us every day with her ability to master new skills, and we expect great things from her.
When did your child receive a KS diagnosis?
Addie is 7 and after many years of searching for an answer, she was diagnosed at age 5 using whole exome sequencing.
What resources, outlets, communities were most helpful to you at that time?
UNC Hospitals provided us with the diagnosis, and then we did a lot of digging to uncover scarce resources about KS. Groups like Unique, KS.org, and KidsIQ helped us find a community of families that share our challenges. Early intervention services like occupational and speech therapies from our school system helped Addie build a foundation for success.
How has KS changed your life as a family?
Every small step of progress is cause for celebration — we don’t take anything for granted in our house. Whether it’s learning to read, singing a song, or having a good conversation, we are grateful for every gain. We also look for family activities that challenge Addie and gently nudge her out of her comfort zone so she can build confidence.
What is your biggest hope for the future?
It’s pretty simple and probably what every parent wants for their child — we hope that Addie will live a healthy, happy, productive, and independent life as an adult.
Julie Drake, Director of Partnerships
Julie, Amber’s mom, has a degree Biological Sciences from Northern Illinois University
Julie Drake, Director of Partnerships
Julie Drake, Amber’s mom, is currently a stay-at-home mom fighting for the best possible life for her daughter whose needs became more complex as she got older. She has 9 years’ experience working as a registered nurse. She spent those years working in a specialty pediatric outpatient clinic, inpatient pediatric rehabilitation, pediatric home health and a nursing home. As a nurse, Julie was passionate about helping children with complex medical conditions and their families through difficult medical procedures, traumatic hospital stays, medication management, and fighting insurance companies for necessary medical care. Being a nurse, while having her own medically complex child helped Julie relate to and understand the needs of patients and their families on a personal level. Julie has a Bachelor of Science in Nursing from Purdue University and a bachelor’s degree in Biological Sciences from Northern Illinois University.
Julie is excited about joining IDefine as Director of Partnerships so she can continue to use her medical knowledge and life experience to advocate for the best possible future for those living with Kleefstra Syndrome and other genetic disorders.
In Julie’s own words:
Tell us about the person you love who was diagnosed with KS
My daughter Amber is a loving happy young lady who sees the good in everyone she meets. She loves music and dancing, riding her adult tricycle, doing puzzles and splashing in the pool. She is on the adapted cheerleading team at her high school and enjoys being around her peer buddies. Amber excels at using an electronic communication device for most of her speaking needs.
When did your child receive the KS diagnosis?
Amber was 10 years old when she was diagnosed and is 15 now. I was 3 weeks out from giving birth to our third child when I got the call from the geneticist that, finally, the test came back with an answer.
What resources, outlets, communities were most helpful for you at that time?
Rush University Medical Center in Chicago was instrumental in getting us the diagnosis and the very first information we received about Kleefstra Syndrome. After that I found kleefstrasyndrome.org and the KS Facebooks groups.The Kleefstra conference in Boston in 2018 was also an enormous help in understanding the research that was going on and bringing us hope for the future.
How has KS changed your life as a family?
There have been many challenges especially as Amber has gotten older. We have always found a way to adapt and cherish all the wonderful moments we have with her. The fear we felt upon the initial diagnosis and learning about the possibility of her going through psychosis and regression became a reality for her last year. It was a very dark difficult time, but we always come out stronger. Amber’s brothers are growing up to be the kindest, most compassionate and understanding humans. They have missed out on a lot of things due to her therapy schedules, hospitalizations, etc., but they have also gained so much from seeing her persevere and shine despite all the struggles.
What is your biggest hope for the future?
Ideally a treatment would be developed that but can reverse the numerous challenges associated with KS or prevent a worsening of symptoms with age. There are children and young adults that die from complications related to having this disorder. No one likes to think about that or talk about that, but it’s a miserable reality. My biggest hope is for everyone with KS and all genetic disorders is to be able to live their best lives possible for as long as possible without suffering from the physical medical complications, psychosis, or regression.
International Leaders
Vanessa Khoury (Australia)
Vanessa, Gabriella's Mum, she is a HR consultant and an expert fundraiser.
Vanessa Khoury (Australia)
Vanessa Khoury is Gabriella's Mum, she is a HR consultant and an expert fundraiser. Vanessa joined the IDefine team early 2021 after a lot of digging around for information upon receiving Gabriella's diagnosis at 11 months. Determined to help the IDefine team reach its goals, Vanessa’s family and community within Australia have been working tirelessly to raise much needed funds for research. To date they have raised over $60k, and they hope that there is much more! Vanessa is very hopeful about Gabby's future, and she is committed to working hard every single day to ensure that Gabby not only meets her developmental goals but also the ultimate goal of a treatment and cure for Kleefstra!
Tanja Zdolsek Draksler (Slovenia)
Dr. Tanja Zdolšek Draksler (female) is working as a research project manager
Tanja Zdolsek Draksler (Slovenia)
Dr. Tanja Zdolšek Draksler (female) is working as a research project manager at the Centre for knowledge transfer in information technologies at the Jožef Stefan Institute in Ljubljana, Slovenia, Central Europe. Working on several international research projects granted her an insight into the intersection of artificial intelligence, machine learning, data mining, text mining and semantic technologies related to different areas of application (multimedia, e-learning and personalised learning, logistics, financial technologies etc.). She is interested in knowledge transfer and entrepreneurship. Tanja holds a university degree from the Faculty of Electrical Engineering and Computer Science. She gained her PhD from the Faculty of Economics and Business. Before working in research, Tanja was working in journalism, media production and public relations. She has a daughter with Kleefstra syndrome.
Michelle Connor (Ireland)
Michelle, Lydia's mom, is the founder of Kinva, on a mission to digitally connect therapists.
Michelle Connor (Ireland)
After graduating in Law from Queen’s University Belfast, Michelle spent six years as a Government Law and Policy Advisor in the Department for the Economy where she helped manage Northern Ireland’s £20 billion Health budget, including assessment of funding applications from the voluntary sector. More recently, for eight years, she worked as an Advisor to the Minister for Health, formulating strategy and policy for many areas of healthcare, including the regional Genetics service and the UK Strategy for Rare Diseases.
Michelle is mum to two children - Lucas and Lydia. When Lydia was 16 months old, she was diagnosed with Kleefstra Syndrome. This life-changing event altered the focus of Michelle’s life. She is now CEO and Co-founder of a software platform which connects expert therapists and their clients around the world, and whose team mission is for all therapy provision to be effective, tailored, and readily accessible.
In her spare time, Michelle is a keen runner. She lives in Northern Ireland with her husband, Will, and their two children.
Sebastian Ziegler (Germany)
Sebastian Ziegler, Julia´s Dad, is Head of Communications of an European automotive
Sebastian Ziegler (Germany)
Sebastian Ziegler, Julia´s Dad, is Head of Communications of an European automotive finance company. During his studies he lived in Finland, Spain and South America, and discovered his passion in connecting different cultures with each other.
When his daughter was diagnosed with the Kleefstra Syndrome in 2019, Sebastian and his wife Inés, a doctor in biology, started to connect with parents from across the globe who share the same dream: finding a cure for the Kleefstra syndrome. Both know that there is still a long way to go, but they are convinced that if families, doctors and researchers work together medical care can significantly be improved and specific treatments can be developed.
Sebastian and his wife are very committed to ensure Julia reaches her full potential, and consider their daughter – a little girl – as the biggest inspiration in their life.
In his spare time, Sebastian enjoys reading and writing. One of his books, “Kathrinchen Zimtstern”, was produced as a musical for children.
Our Partners
IDefine was born of collaboration, and we are committed to sharing our talents, strengths, and access to resources to further the cause of finding and funding cutting-edge treatments for individuals living with Kleefstra Syndrome and other Intellectual Disabilities.
We are also committed to identifying and finding ways to collaborate with the partners whose talents and resources will help us in our mission. If you have ideas for how we could work together, please reach out to us at Unlock@IDefine.org
We are also committed to identifying and finding ways to collaborate with the partners whose talents and resources will help us in our mission. If you have ideas for how we could work together, please reach out to us at Unlock@IDefine.org
We would love to hear from you.
If you have any questions feel free to contact us. We will be sure to get back to you as soon as possible.