Family Groups

The mission of the Angelman Syndrome Foundation (ASF) is to advance the awareness and treatment of Angelman syndrome (AS) through education and information, research, and support for individuals with Angelman syndrome and their families. ASF consists of 5 staff and a board of directors consisting of 14 individuals. Most of our board members are AS parents, so they can provide the vital caregiver perspective.

The prevalence of Angelman syndrome is approximately 1 in 12,000-20,000. Feeding difficulties, reflux, and hypotonia are predominant symptoms from early in infancy. Children start to demonstrate developmental delay by 6 months. The diagnostic journey is often prolonged by excessive wait times to see specialists and AS is often misdiagnosed as cerebral palsy and autism spectrum disorder (ASD). Many medical care providers have never heard of Angelman syndrome and do not know to suspect it, even with telltale signs. Angelman syndrome is diagnosed by a genetic test looking for a dysfunctional or missing UBE3A gene.

90% of children with Angelman syndrome develop seizures and have profoundly disordered sleep necessitating nearly round the clock caretaking. Individuals with AS are largely nonverbal, requiring intensive speech therapy to use augmentative and alternative communication (AAC) devices to express basic needs. Communication difficulties often lead to behavioral challenges that can be difficult to manage. While most children do learn to walk, they require intensive and ongoing therapy to work on balance and coordination.

Research is key to improving the lives of individuals with Angelman syndrome and to finding a cure. Our understanding of AS is vast, but there is so much more to discover and learn. Research is key to getting us closer to the therapeutic treatments to increase the overall wellbeing of our individuals with AS, and understanding how the brain works in those with AS is essential.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

CSNK2A1 Foundation is a patient advocacy group dedicated to raising awareness, supporting individuals, and funding research for Okur-Chung Neurodevelopmental Syndrome (OCNDS). Individuals with OCNDS have developmental, speech, and motor delays, intellectual disabilities, autism, behavioral challenges, sleep issues, and in some cases, epilepsy.

Currently, there is no definitive cure or treatment for OCNDS. OCNDS is typically a de novo mutation with multiple variants that affect individuals differently regarding symptom number and severity. OCNDS was first discovered in 2016, and we now know of over 200 individuals diagnosed worldwide. OCNDS is caused by mutations in a gene called CSNK2A1, which makes the alpha subunit protein of Casein Kinase 2. This kinase has hundreds of targets and has been implicated in many cancers, neurodegenerative diseases, psychiatric disorders, and immune disorders, highlighting the importance of CK2 function in the body.

Research is needed to better understand the biology of OCNDS and how we can better diagnose and treat OCNDS in the future. To improve our research efforts, we are proud to partner with Autism BrainNet to increase our knowledge of OCNDS, facilitate brain donations, and advance brain tissue research. Autism BrainNet is a program of the Simons Foundation Autism Research Initiative (SFARI) that promotes innovative, high-quality research on postmortem brain tissue to improve the understanding of the biological causes of autism spectrum disorder and related neurodevelopmental conditions.

Donating brain tissue after death is difficult to think about and discuss with loved ones. We appreciate that the human brain is an invaluable resource to advance our understanding of OCNDS and accelerate discoveries to improve treatment options and quality of life for individuals with OCNDS and their families. A brain donation to Autism BrainNet creates a legacy that helps advance research on OCNDS, autism, and related neurodevelopmental conditions. Their work is imperative as brain donation is not part of most organ donation registries. Autism BrainNet makes the process of brain donation as simple as possible for every family. Donor families are treated with respect and compassion and provided with ongoing support. Pre-registration is not required to become a donor with Autism BrainNet, but long-term planning can make the donation process easier.

At the time of donation, call Autism BrainNet at 877-333-0999 for immediate assistance. They’re available 24/7. Learn more at autismbrainnet.org/families/how-why/.

With the improvement of genetic technologies, there are many genes now being identified that result in increased risk for autism. In people with a mutation in an area of chromosome 15, known as “dup15q”, almost 80% are diagnosed with autism spectrum disorder (ASD).

Between 1-3% of all autism cases may involve this or similar alterations of chromosome 15. Therefore, understanding the brains of people with this genetic form of autism may provide important insights into the causes of autism spectrum disorder more generally.

Because of the strong commitment by the Dup15 Alliance, many scientific discoveries have been made using brain tissue of those with dup15q. This knowledge is critical to moving forward with specific and targeted interventions for those with this mutation.

As shown by the lab of Dr. Jerzy Wegiel at Institute for Basic Research in New York (pictured right), neurons in brains from individuals with dup15q show pronounced and persistent changes in cell size in brain regions known to be associated with autism. As the brain regions involved include the hippocampus and other areas of the limbic system, this may contribute to the high rate of seizures and epilepsy in those with this mutation. This group also has been investigating expression of amyloid-beta protein in individuals with autism and dup15q.

By focusing on individuals with specific genetic mutations, a better understanding of how genes and the environment interact is possible. For example, Janine LaSalle at the University of California, Davis (left) found that PCB levels (an environmental toxin) were very high in brain tissue of individuals with dup15q and autism. The amounts were much higher than what would be expected and indicate that the mutation may alter clearance of these environmental contaminants.

LaSalle is actively pursuing these gene/environment interactions in mouse models, thanks to this discovery in human brain tissue.

We thank all the members of the Dup15 Alliance community for their participation in this research.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

Changes in the SCN2A gene can lead to devastating health conditions, including epilepsy and autism. Fewer than 1,000 people worldwide have been identified as having a change in the SCN2A gene. But the number of people diagnosed is growing exponentially every year. Recently, changes in the SCN2A gene have been linked to neurodevelopmental disorders.

People who have SCN2A-related conditions can present with severe, early onset epilepsy, and many have a poor quality of life. Sadly, children who have changes in the SCN2A gene do not always survive childhood.

The FamilieSCN2A Foundation is an organization created by parents of children diagnosed with epilepsy or neurodevelopmental conditions as a result of a change in the SCN2A gene. The Foundation’s vision is to find effective treatments and a cure for SCN2A disorders. Their mission is to improve the lives of those affected by changes in SCN2A through clinical research, effective treatments, public awareness, early detection, patient advocacy, and family support. FamilieSCN2A is a registered 501(c)(3) organization.

One of the leading researchers on SCN2A explains why tissue donation is so important to advancing research:

“The human brain is the most complex and unique object in the known universe. Our attempts to understand how it works, and how it goes wrong in human disease, are hindered by our inability to test human brain tissue directly. Instead, we rely on less complex animal brains or small numbers of human brain cells grown in a dish. Some of the data we generate from these is a good reflection of how the human brain works, but other data are not. Even a small number of human brain samples provides critical information to allow us to distinguish the good and informative data from the poor and irrelevant data. Having access to these human samples is like a navigator glimpsing the north star, providing a point of truth in the dark to guide them home. The brave and generous donations these families make will have far reaching and important impacts in our quest to develop future therapeutics.”

The FamilieSCN2A Foundation is proud to partner with Autism BrainNet, as their high standards of quality tissue collection, storage, and distribution to leading researchers is unparalleled. The team is available 24/7 to ensure a process that is smooth, compassionate, and respectful of the donors and their families.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

The FOXG1 Research Foundation (FRF) is the Rare Disease Patient Organization dedicated to finding treatments and ultimately a cure for FOXG1 syndrome, while advancing awareness and advocating for FOXG1 families worldwide.

What is FOXG1 syndrome?
Previously called Brain factor 1, FOXG1 is a transcription factor gene and one of the first and most critical genes in brain development. In 2021, there are just under 1000 known individuals diagnosed with FOXG1 syndrome worldwide, with the diagnosis rate climbing steadily year-over-year.

FOXG1 syndrome is typically a de novo mutation with multiple variants that affect individuals differently along the spectrum of severity. Most patients are nonverbal, have severe cognitive and physical disabilities, experience intractable seizures, feeding difficulties, reflux, and hyperkinetic movement disorders. Less-severely-affected FOXG1 children often present with Autism Spectrum Disorder (ASD) as FOXG1 syndrome is an autism related gene.

As research to find therapeutics for FOXG1 syndrome is advancing, we must continue to understand the basic biology of the gene and how it affects the brain. In order to develop targeted interventions, it is critical for scientists to study individual brain cells and as molecular pathways and patterns of gene activity.

Why is donating brain tissue important to research FOXG1 syndrome?
Donating postmortem brain tissue is the most difficult topic and the last thing a FOXG1 parent wants to think about. It is comforting to know that the human brain is an invaluable resource for advancing knowledge of the gene and identifying treatments that can significantly help improve the quality of life for individuals with FOXG1 syndrome in the future. Our FOXG1 angels will help bring us closer to changing the face of this disorder.

The FRF has partnered with Autism BrainNet to help collect postmortem brain tissue from FOXG1 syndrome patients. Autism BrainNet collects, processes, stores, and then distributes collected donations as requested to qualified researchers worldwide.

This partnership is a valuable resource for researchers interested in FOXG1 syndrome while ensuring the smoothest process for families in difficult times.

Who can donate and how
Autism BrainNet accepts postmortem brain donation from people of any age that have a diagnosis of FOXG1 syndrome. The process of brain tissue donation is simple for donor families, and Autism BrainNet provides compassionate support throughout.

• When the death of a loved one is near or has occurred, families call Autism BrainNet’s 24-hour, 7-day-a-week hotline to begin the donation process: 877-333-0999.
• Autism BrainNet then works with families and medical providers to obtain authorization and to coordinate the donation.
• A follow-up meeting is scheduled for Autism BrainNet to learn more about the donor and to obtain medical, behavioral, and family information.

There is no cost to families and brain tissue donation will not interfere with funeral or memorial service plans. Pre-registration is not required for donation, however, families are encouraged to download Intent to Donate Form form and the Autism BrainNet Brain Donor Card.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

Foundation for Prader-Willi Research and Autism BrainNet

Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity.

The Foundation for Prader-Willi Research was established in 2003 by a small group of parents who saw the need to foster research that would help their children with Prader-Willi syndrome lead more healthy and fulfilling lives.

The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research and therapeutic development. High-quality research will lead to more effective treatments and an eventual cure for this disorder.

Why is donating brain tissue important to research and therapeutic development in PWS?

Our understanding of Prader-Willi syndrome (PWS) is advancing, but not as quickly as we, scientists and families, would want. One challenge is that the direct study of disorders that affect the brain, like PWS, is more difficult than disorders affecting other organs. While the development of models that mimic some aspects of PWS including cell and animal models have greatly advanced our understanding of the syndrome and have been critical for screening potential therapeutics before they are being tested in patients, there is no substitute for studying human brain tissue to unravel the complexities of the brain neurocircuitry changes in PWS.

Brain donation is critically important. Relative to donations of other organs for transplantation and/or research, brain donation is severely lagging, especially from children. “If we want better interventions, we need to look for neuropathology and find patterns of cell pathology.” says Dr. Patrick Hof, Icahn School of Medicine at Mount Sinai. “We need to build a significant research resource of donated brain tissue.”

FPWR’s partnership with Autism BrainNet will enable the highest quality brain tissue collection, storage and distribution to the PWS research community, be a valuable resource for researchers interested in PWS and in other-related disorders while ensuring the smoothest process for families in difficult times.

Brain tissue donation: Honoring loved ones through hope
Better insight into the cellular and molecular changes in the human brain that are associated with Prader-Willi syndrome (PWS) will help researchers to identify new and effective treatments. As research into the biology of PWS has become more advanced, studies on the postmortem human brain have become an important tool for understanding the neuropathology of the condition. However, brain donation is rare and tissue for research is not readily available.

Prader-Willi Syndrome Association | USA and Autism BrainNet
PWSA | USA has partnered with Autism BrainNet to help collect postmortem brain tissue from people who have PWS. Autism BrainNet collects, processes, stores, and then distributes collected donations as requested to qualified researchers worldwide.

“Postmortem brain tissue is an invaluable resource for advancing our knowledge of and identifying treatment options that can significantly improve the quality of life of individuals with PWS and their families,” said Paige Rivard, CEO of PWSA | USA. “PWSA | USA’s partnership with Autism BrainNet is a way to honor the memories of our loved ones while providing hope for a brighter future for our community.”

Who can donate and how
Autism BrainNet accepts postmortem brain donation from people of any age that have a diagnosis of autism or a genetic diagnosis, such as PWS. The process of brain tissue donation is simple for donor families, and Autism BrainNet provides compassionate support throughout.

• When the death of a loved one is near or has occurred, families call Autism BrainNet’s 24-hour, 7-day-a-week hotline to begin the donation process: 877-333-0999.
• Autism BrainNet then works with families and medical providers to obtain consent and to coordinate the donation.
• A follow-up meeting is scheduled for Autism BrainNet to learn more about the donor and to obtain medical, behavioral, and family information.

There is no cost to families and brain tissue donation will not interfere with funeral or memorial service plans. Preregistration is not required for donation, however, families are encouraged to download “Intent to Donate Postmortem Brain Tissue for Research” information sheet and the Autism BrainNet Brain Donor Card, both available on the Autism BrainNet website.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

Advancing research, honoring loved ones with the gift of brain donation

Autism BrainNet has partnered with GRIN2B Foundation to help collect postmortem brain tissue from people who have GRIN2B-related neurodevelopmental disorder. GRIN2B Foundation is a registered 501(c)(3) organization led by a group of parent volunteers. The mission of the GRIN2B Foundation is to support the worldwide community of people with changes in the GRIN2B gene, promote awareness for this ultra-rare disorder, and fund research that will lead to treatments and better care.

“Our community has experienced several unexpected and devastating losses in recent years,” shares Liz Marfia-Ash, president and founder of GRIN2B Foundation. “Previously, we did not think of GRIN2B as a condition that could lead to fatalities. These recent losses have served as a tragic reminder that there is still so much we do not understand about the effects of GRIN2B on our loved ones. I truly wish I did not have to educate our families about brain donation, but I want our community to be prepared should the worst happen. Brain donation is not going to be for everyone, but I want families to know there is a way to honor their loved ones and help provide answers for future GRIN2B families.”

Who can donate and how
Autism BrainNet accepts postmortem brain donation from people of any age with a diagnosis of autism or a genetic diagnosis such as GRIN2B. The process of brain tissue donation is simple for donor families, and Autism BrainNet provides compassionate support throughout.

• When the death of a loved one is near or has occurred, families call Autism BrainNet’s 24-hour, 7-day-a-week hotline to begin the donation process: 877-333-0999.
• Autism BrainNet then works with families and medical providers to obtain authorization and to coordinate the donation.
• A follow-up meeting is scheduled for Autism BrainNet to learn more about the donor and obtain medical, behavioral, and family information.

There is no cost to families, and brain tissue donation will not interfere with funeral or memorial service plans.

Pre-registration is not required for donation; however, families are encouraged to download the Intent to Donate Form, and the Autism BrainNet Brain Donor Card.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

KIF1A is the gene responsible for the production of the KIF1A protein. The KIF1A protein is part of the kinesin superfamily proteins (KIFs), a type of molecular motor proteins located within the nervous system responsible for transporting important cargo, such as nutrients and other molecules, within nerve cells along cellular roadways called microtubules. Motor proteins use a cellular fuel source, adenosine triphosphate (ATP), to transport cargo inside of cells. The KIF1A protein has been called the “molecular marathon runner” because it must move cargo a very long distance at a very fast speed.

KIF1A Associated Neurological Disorder (KAND) is a rare neurodegenerative disorder with a progressive course caused by pathogenic (disease-causing) variants in the KIF1A gene. KAND can only be diagnosed through genetic testing as many symptoms are often mistaken for cerebral palsy or other more common diseases. Signs and symptoms for KAND vary dramatically from person to person; however, there are commonly associated symptoms for those living with KAND. As a spectrum-type disorder, some common symptoms are listed below, but this does not mean an affected individual will experience all of these symptoms:

• Neurological
  • Ataxia
  • Hereditary Spastic Paraplegia (HSP)
  • Hypotonia
  • Hypertonia
  • Peripheral neuropathy
• Neuroimaging
  • Abnormal MRI finding
  • Cerebellar and/or cerebral atrophy
• Ophthalmic (Eyes/Vision)
  • Optic nerve atrophy/hypoplasia
  • Cortical visual impairment
  • Strabismus
  • Nystagmus
• Seizures/Epilepsy 
• Cognitive/Behavioral
  • Developmental delay/intellectual disability
  • Autism
  • ADHD
  • Anxiety
• Autonomic
  • Difficulty with temperature regulation (e.g., sporadic fevers unrelated to illness)

Understanding the complexity of changes and degeneration associated with KAND and other diseases affecting the brain is essential in helping our research community target appropriate treatment options. By studying human brain tissue, researchers can make discoveries for KAND as well as other diseases. Brain tissue research is an advanced, significantly impactful research option available to scientists through the gift of brain donation.

Why donate?

There is still so much to learn about how the brain works and changes for those diagnosed with autism or a related neurodevelopmental condition. Allowing scientists to examine brain tissue facilitates a better understanding of the changes that occur in the brain and provides the opportunity for researchers to identify treatments to improve the quality of life for so many others living with these conditions. A brain donation is a meaningful way for donor families to contribute to science after the loss of a loved one. Donor families offer hope to others urgently seeking treatment development.

“The gift that our families have given to the community has been just incredibly hard but so incredibly generous and so incredibly important for all of the kids and folks out there with KAND…With generous donations of the families, we’ve been able to start understanding what parts of the body are affected, what parts of the nervous system are affected, and we have some sense now of which parts are most sensitive. In terms of being able to think about where we need to give a drug or where we need to give a therapy…It’s a very practical question that we would not have been able to know without being able to see the brain. With each child’s brain, we’ve learned more and more. For those of you who are parents or family members of those angels, I can’t tell you how much your contribution has meant to the entire community and for generations until we cure this.” –Dr. Wendy Chung, Columbia University Irving Medical Center, speaking at the 2021 KAND Family and Scientific Engagement Conference.

Through this partnership with Autism BrainNet, a compassionate process has been established for KAND families who would like to advance research through the gift of a brain donation should their loved one pass away. This partnership allows for a donation process that is as simple as possible for families.

If you are part of the KIF1A family community, please visit www.kif1a.org/selfless-gift for more details. For additional support, please reach out to the KIF1A.ORG team at [email protected].

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

Phelan-McDermid Syndrome (PMS) is caused by deletions of the distal long arm of 22 (22q13) or pathogenic mutations of the SHANK3 gene, which plays an important role in the way synapses facilitate efficient neuron-neuron communications in the brain, impacting learning and memory.

First diagnosed in 1985 and further described in 1988 by Katy Phelan (shown left) and colleagues as a de novo deletion in 22q13.3, the true prevalence of PMS has not been determined. More than 1400 people have been identified worldwide according to the Phelan-McDermid Syndrome Foundation (PMSF).

However, it is believed to be underdiagnosed due to past limitations of genetic testing and lack of specific clinical features. It is known to occur with equal frequency in males and females.

Studies using chromosomal microarray for diagnosis indicate that at least 0.5% of cases of autism spectrum disorder (ASD) can be explained by mutations or deletions in the SHANK3 gene. In addition, when ASD is associated with intellectual disability (ID), SHANK3 mutations or deletions have been found in up to 2% of individuals. The rate of SHANK3 insufficiency in ID and ASD is still being determined; however, these findings imply that it is one of the most common single gene causes.

PMSF and the research community are working to try to find treatments and, eventually, cures for PMSF. At the present, there are no medications approved specifically for the treatment of PMS. There are medications to manage the symptoms and comorbid conditions often associated with PMS.

Therefore, understanding the brains of people with this genetic form of autism may provide important insights into the causes of Phelan-McDermid Syndrome and autism spectrum disorder more generally.

By focusing on individuals with specific genetic mutations, a better understanding of how genes and the environment interact is possible.

We would like to thank everyone in the PMS community for considering participation in this groundbreaking research.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].

Advancing research, honoring loved ones with the gift of brain donation

SynGAP Research Fund (SRF) has partnered with Autism BrainNet to help collect postmortem brain tissue from people who have SYNGAP1. The mission of the SynGAP Research Fund is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide.

“Postmortem brain tissue is precious. It can help researchers understand how to help all the patients still living with the disease of SYNGAP1,” says Mike Graglia, managing director of SRF. “I hate to think of my son’s passing and hope he will outlive me, but I have registered him for this donation; we all should do what we can to help science tackle this disease. We are fortunate that the Simons Foundation supports Autism BrainNet and that their professional, caring and capable team are here to support our families and then steward the tissue samples. Their generous support is a gift to the community.”

Who can donate and how
Autism BrainNet accepts postmortem brain donation from people of any age with a diagnosis of autism or a genetic diagnosis such as SYNGAP1. The process of brain tissue donation is simple for donor families, and Autism BrainNet provides compassionate support throughout.

• When the death of a loved one is near or has occurred, families call Autism BrainNet’s 24-hour, 7-day-a-week hotline to begin the donation process: 877-333-0999.
• Autism BrainNet then works with families and medical providers to obtain authorization and to coordinate the donation.
• A follow-up meeting is scheduled for Autism BrainNet to learn more about the donor and obtain medical, behavioral, and family information.
  There is no cost to families, and brain tissue donation will not interfere with funeral or memorial service plans.

Pre-registration is not required for donation; however, families are encouraged to download the Intent to Donate Form, and the Autism BrainNet Brain Donor Card.

For more information about the donation process, call Autism BrainNet at 877-333-0999 or email [email protected].