Family Groups

Autism BrainNet partners with family advocacy organizations that advance research into the genetic changes related to autism and other neurodevelopmental conditions.

These organizations support their families during the donation process and depend on Autism BrainNet to receive the precious gift of brain donation in a compassionate and expert manner.

Our family group partners include:

Angelman Syndrome Foundation

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 info@autismbrainnet.org.

Dup15q Alliance

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 info@autismbrainnet.org.

FamiliesSCN2A Foundation

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 info@autismbrainnet.org.

Prader-Willi Syndrome

Foundation for Prader-Willi Syndrome 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 info@autismbrainnet.org.

Phelan-McDermid Syndrome Foundation

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 info@autismbrainnet.org.