Category Archives: Angelman Syndrome Clinics

Announcing the 15q Clinical Research Network
18 Nov

Announcing the 15q Clinical Research Network

Angelman Syndrome Foundation and Dup15q Alliance Announce Development of the International Clinical Research Network in efforts to help those living with 15q syndromes. 

Thousands of families affected by Angelman syndrome (AS) and dup15q syndrome will soon have greater access to comprehensive clinical care through the development of The 15q Clinical Research Network. The Angelman Syndrome Foundation (ASF) and the Dup15q Alliance are proud to announce that through this collaborative effort the 15q Clinical Research Network would expand to 20 operating clinics to serve patients with Angelman syndrome or dup15q syndrome.

For more than a decade the ASF and Dup15q Alliance have been supporting multidisciplinary clinics to ensure up-to-date evidence-based clinical care for individuals with Angelman and Dup15q syndromes. What began as a few clinics has grown to almost 20 sites in the U.S. with four international sites between the two organizations. These clinics are working to standardize care for those with these disorders, a critical step forward as we approach clinical trials. Additionally, they serve as a platform for robust clinical research including collection of integral natural history data.

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Angelman and dup15q syndromes are two rare conditions that occur due to a problem with the same region of the 15th chromosome. Because of that, they share symptoms (developmental delays, GI problems, seizures) that often require specialized care. Due to the rareness of the syndromes, local general practitioners and even specialized doctors often do not have a thorough knowledge of the complications and treatments. To get the care they need some families have traveled far to receive care for their loved ones at the clinics that have dotted the U.S. map. 

Both foundations realized that there were far too many families who were not able to travel to receive specific care, so they embarked on a mission to dramatically expand the clinical reach of the networks and provide truly comprehensive care across the country by combining forces. 

ASF CEO, Amanda Moore, says, “We believe that partnering with the Dup15q Alliance will allow us to increase our reach to the AS community and provide the best care for our families. Comprehensive and specific care is critical for AS families throughout the stages of their journey — by partnering with Dup15q Alliance we are able to reach thousands of more families with care and support by bringing AS Clinics to their geographical location.”

The joint expansion of the clinical network will also expand the amount of clinical trial sites in the future, increase research and publications, and add important clinical data that can impact the therapeutic treatments around both disorders. 

Vanessa Vogel-Farley, Executive Director of Dup15q Alliance states, “One of the biggest challenges those who have 15q related disorders face is finding clinical support that is educated about their needs and that are effective activated partners in the complex medical care of their loved one. The collaboration between the Angelman and dup15q syndrome communities in the establishment of the 15q Clinical Research Network helps to alleviate that burden, by expanding the number of locations where expert providers are available, and  establish a system for transferring care of the patients back to their local providers through education and seamless communication with providers.”

This is the not the first time that ASF and Dup15q Alliance have worked together.  Because of the common issues with the 15th chromosome, the past several years ASF and Dup15q Alliance have co-hosted a research symposium every two years.  Many researchers that study Angelman syndrome also study dup15q syndrome and the research symposium brings them together to share ideas and collaborate, advancing research and clinical trials. 

Angelman syndrome is a rare genetic disorder caused by the loss of function of a specific gene (15q chromosome) during fetal development, resulting in severe neurological impairment present at birth and lasting for a lifetime. Symptoms vary and include severe developmental delays, speech impairments, seizures, walking and balance disorders, and frequent laughter and excitability. While there is no definitive count, it is estimated that Angelman syndrome occurs in one in every 15,000 live births.

Dup15q syndrome is a clinically identifiable syndrome that results from the duplication (or multiplication) of the same portion of the 15q chromosome that is deleted in Angelman Syndrome.  Also known as chromosome 15q11.2-q13.1 duplication syndrome, this is a neurodevelopmental disorder that confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability, etc. It is estimated to occur in one out of every 8,000-10,000 live births.

Dr. Elizabeth Jalazo Named as Director of Clinical Integration
12 Jun

Dr. Elizabeth Jalazo Named as Director of Clinical Integration

Angelman Syndrome Foundation (ASF) Creates New Director of Clinical Integration Position for their Expanding Clinical Network that Offers Comprehensive Care and Treatment for those with Angelman Syndrome (AS)

 

The Angelman Syndrome Foundation (ASF) has announced that Dr. Elizabeth Jalazo, a pediatrician at the University of North Carolina in Chapel Hill, will take on the new position of Director of Clinical Integration for the ASF.

In her role as the Director of Clinical Integration, Dr. Jalazo will oversee ASF’s Clinic Network which currently includes eight domestic and four international clinics. In this role, she will work with our current ASF Clinic Networks to ensure excellence as well recruiting new clinics to serve individuals with Angelman Syndrome.  Dr. Jalazo will also work to increase resources to accelerate the discovery and development of effective therapeutics that can prevent or reduce the core symptoms of Angelman Syndrome (AS). Primary efforts will target medical research, with a strong focus on neurological, psychopharamacological and clinical trials research. In her role as Director of Clinical Integration, Dr. Jalazo will also serve as the ASF spokesperson in responding to the needs of the organization and community regarding medical concerns, inquiries, and policies. In this capacity, Dr. Jalazo will act as a primary liaison between ASF and medical professional organizations working with children and adults with AS, and their families.

Amanda Moore, CEO of ASF, states, “We are thrilled that Dr. Jalazo is filling this new and vital position at the ASF.  Because of her unique background, and due to her own experience of having a child with AS, Dr. Jalazo is also able to support the ASF in advocacy efforts as they relate to the AS community.  She has provided expert testimony to the US Congressional Rare Disease Caucus about the importance of ending the diagnostic odyssey and ensuring access to appropriate genetic testing for children and families. Additionally, Dr. Jalazo has spoken at the FDA about the importance of newborn screening and the impact of timely diagnosis in rare disease. She is working closely with legislative advocates on Capitol Hill to ensure the needs of our community are being heard.”

Dr. Jalazo is a pediatrician at the University of North Carolina in Chapel Hill. She received her Bachelor of Science from UNC Chapel Hill and her Doctor of Medicine (MD) from Wake Forest University. She completed her pediatric residency at Johns Hopkins Hospital in Baltimore, MD. Following a research fellowship in academic pediatrics, Dr. Jalazo also served as the pediatric Chief Resident at Johns Hopkins. She practiced in the DC area caring for children with complex healthcare needs prior to moving back home to North Carolina with her family. She lives in Chapel Hill, NC with her husband and three children. Her middle daughter, Evelyn has Angelman Syndrome. She is currently a fellow at UNC in the Division of Medical Genetics and Genomic Medicine.

In welcoming Dr. Jalazo to the new ASF position, Moore says, “Besides her vast experience and clinical understanding of AS, Dr. Jalazo has a deep passion for caring for children with special healthcare needs. She has served on the Board of the Angelman Syndrome Foundation since 2017 and is excited, as we are, to serve the community in this new role moving forward.”

ASF AS Clinic at UNC Chapel Hill Studies Anxiety
30 May

ASF AS Clinic at UNC Chapel Hill Studies Anxiety

Anxiety in Angelman Syndrome

Important work coming out of the ASF Clinic Network at the University of North Carolina at Chapel Hill. Did you know that anxiety concerns are reported in 40% of people with AS? Characterizing that anxiety is critically important to design tools that can tell us if therapeutics are working!

Read the published paper. 

Thank you to all of our families who visit the clinics and make this research possible! And thank you to all of those generous donations that make our clinics possible. 

Angelman Syndrome Clinic Opens in Chicago, IL
22 Aug

Angelman Syndrome Clinic Opens in Chicago, IL

Rush University Medical Center Launches Angelman Syndrome Clinic

The First Comprehensive Clinic in Illinois Providing Support for Individuals with Angelman Syndrome

(CHICAGO) – Rush University Medical Center and the Angelman Syndrome Foundation (ASF), a national nonprofit organization headquartered in Aurora, Ill., announced the official opening of the Angelman Syndrome Clinic at Rush Children’s Hospital. The Angelman Syndrome Clinic at Rush is the first and only in Illinois and one of only eight in the U.S.

“Rush is focused on serving the comprehensive medical needs of individuals with Angelman syndrome,” said Dr. Cesar Ochoa-Lubinoff, co-director of the Angelman Clinic at Rush. “With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation.”

“Individuals with Angelman syndrome have extreme challenges obtaining the care they need as they grow into adults,” said Dr. Elizabeth Berry-Kravis, co-director of the Angelman Clinic at Rush. “Our hospital is uniquely positioned to provide services to this portion of the population and their families.”

“Our partnership with the ASF has allowed us to further meet these needs and provide the comprehensive medical services that improve patient and families’ quality of life,” said Ochoa-Lubinoff.

Occurring in one in 15,000 live births, Angelman syndrome is a neurogenetic disorder often misdiagnosed as autism or cerebral palsy – that causes severe neurological impairment, appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning improperly and causing deficits in development.

Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability. Caregivers need to provide constant supervision and often experience pain, stress, anxiety and exhaustion.

The Angelman Syndrome Clinic at Rush is unique as it can leverage the variety of expertise and specialized care available at the Medical Center to help individuals with Angelman syndrome from infancy through adulthood.

The purpose of the clinic is to reduce the frequency and severity of Angelman syndrome symptoms that interfere with function, such as seizures, behavior and sleep problems. In addition, the clinic will work with families to develop educational recommendations to optimize educational programming for individuals with Angelman syndrome, thus helping these individuals achieve their full developmental potential.

With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the clinic provides comprehensive access to neurologists, epileptologists, developmental-behavioral pediatricians, psychologists, and a sleep medicine physician, rehabilitation medicine specialist, gastroenterologist, pulmonologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker and nutritionist all specializing in Angelman syndrome.

As part of the commitment to improving the lives of patients and families living with Angelman syndrome, the medical team participates in the latest clinical research protocols and trials.

“Opening this clinic at Rush University Medical Center – in our own headquarter’s backyard – is an exciting milestone for ASF. Our mission is to provide help and support to individuals with Angelman syndrome and their families across the country, and this new clinic will bring the best, comprehensive medical care to so many in need,” said Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome. “We are thrilled to help bring this significant resource to the greater Chicago area, and we could not be more proud to partner with Rush University Medical Center and their remarkable team of professionals to bring this clinic to life.”

The Angelman Syndrome Clinic at Rush University Medical Center is located at 1725 W. Harrison St., Suite 710. Chicago. Appointments can be made by calling (312) 942-9645.

For more information about Angelman syndrome and the ASF, please visit www.angelman.org. For more information about Rush Children’s Hospital at Rush University Medical Center, please visit www.rush.edu.

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ABOUT THE ANGELMAN SYNDROME FOUNDATION
The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing treatments and a cure for Angelman syndrome. Since 1996, the ASF has funded 101 research grants totaling more than $9.5 million. The ASF has awarded a majority of these funds ($9.2 million) beginning in 2005. For more information about the ASF, visit www.angelman.org.

About Rush
Rush is an academic health system whose mission is to improve the health of the patients and the diverse communities it serves with nationally recognized health care, education, research and a commitment to community partnerships. The Rush system comprises Rush University Medical Center, Rush University, Rush-Copley Medical Center and Rush Oak Park Hospital, as well as numerous outpatient care facilities. Rush University, with more than 2,500 students, is a health sciences university that comprises Rush Medical College, the College of Nursing, the College of Health Sciences and the Graduate College.

22 Oct

Angelman Syndrome Clinics across the U.S.

ASF invests $1.5 million to support 17 Angelman Syndrome Clinics across the U.S.

Furthering its direct support of individuals with Angelman syndrome and their families, the Angelman Syndrome Foundation has committed $1.5 million to establish 17 comprehensive Angelman Syndrome Clinics across the country during the next few years. The ASF has strategically identified locations that are within a 4-hour driving distance for more than 85% of the AS population in the U.S.—meaning a majority of families (>85%) in the U.S. will not have to travel more than four hours to access their nearest clinic, which is a primary goal of the ASF’s in making the clinics as accessible as possible. Each clinic will receive a three-year funding commitment of $50,000 the first year, $30,000 the second year, and $10,000 the third year, to establish the clinics and support them until they are self-sustaining.

Currently, there are two Angelman Syndrome Clinics established in Chapel Hill, NC and Boston, MA. The ASF is in the final stages to open the next clinic in Rochester, MN and has requested proposals to establish the next clinics in San Diego and Houston, with Chicago to follow. In alphabetical order, future target cities include Atlanta, Cleveland, Dallas, Denver, Jacksonville, New York, Philadelphia, Salt Lake City, San Francisco, Seattle and St. Louis.

The purpose of the ASF’s Angelman Syndrome Clinics is to:

  • Provide a “one-stop-shop” medical and psychosocial resource from birth through adulthood for individuals with AS
  • Provide a foundation to support future clinical trials by having established sites with AS experts and patients in place to conduct those trials when they become available
  • Provide access to a variety of individuals all specializing in AS:  clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist

Learn more about the Angelman Syndrome Clinics and current locations.