2017 ASAP Conference

Conference Speakers

The following speakers have agreed to participate in the ASAP annual conference:

Richard Anderson (Columbia)
Allison Ashley-Koch (Duke)
Marat Avshalumov (IOM at NSPC)
Ulrich Batzdorf (UCLA)
Ghassan Bejjani (UPMC)
Paolo Bolognese (Chiari NSC)
Andrew Brodbelt (Liverpool, UK)
Marco Castori (Rome, Italy)
Palma Ciaramitaro (Turin, Italy)
Brian Dlouhy (Univ. Iowa)
Robert Duarte (NYS Pain Society)
Neil Feldstein (Columbia)
Clair Francomano (Harvey Inst.)
David Frim (Univ. Chicago)
Lorenzo Genitori (Florence, Italy)
Timothy George (Dells’ Children)
Atul Goel (Mumbai, India)
David Goldstein (NIH)
Rodney Grahame (London, UK)
Gerald Grant (Stanford)
Dan Heffez (Chiari Institute, WI)
Ian Heger (MCG)
John Heiss (NIH)
Fraser Henderson (Metro NSG Group)
Bermans Iskandar (Univ. Wisconsin)
Robert Keating (Washington Children)J Klekamp (Quakenbruck, Germany)
Petra Klinge (Brown)
Ilzumi Koyanagi (Hokkaido, Japan)
Roger Kula (Chiari NSC)
Lance LaCerte (Aurora, CO)
Jorge Lazareff (UCLA)
David Limbrick (Wash Univ. St Louis)
Yung Liu (Beijing, China)
Kenneth Liu (UVA)
Yongli Lou (Zhengzhou, China)
Tina Loven (Mercy Clinic, MO)
Cormac Maher (Univ. Michigan)
Anne Maitland (Mt. Sinai)
D Marino (Canine Chiari Institute)
Bryn Martin (Univ. Akron)
Arnold Menezes (Univ. Iowa)
John Mitakides (Beavercreek, OH) Alon Mogilner (NYU)
Kevin Muldowney (Rhode Island) Misao Nishikawa (Osaka, Japan)
Ed Oldfield (UVA)
Fabrice Parker (Paris, France)
Harold Rekate (Chiari Institute, NY)
Brandon Rocque (UAB)
Peter Rowe (Johns Hopkins)
Juan Sahuquillo (Barcelona, Spain)
Francesco Sala (Verona, Italy)
Wouter Schievink (Cedars Sinai)
Victor Shakhnovic (Moscow)
Abe Shulman (SUNY Brooklyn) Konstantin Slavin (Univ. Illinois)
Mark Souweidane (Cornell)
Marcus Stoodley (Sidney, Australia) Charles Tator (Toronto, Canada)
Laura Valentini (Milan, Italy)
Monica Wehby (Portland, OR)
Nicholas Wetjen (Mayo Clinic)
Jeffrey Wisoff (NYU)
Shokei Yamada (Loma Linda, CA)

Chiari Genetic Study

CM1/S Study Participation

The Duke Molecular Physiology Institute (DMPI), formerly the Duke Center for Human Genetics, is actively recruiting families who have TWO OR MORE family members with Chiari type 1 malformation, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate.

Study participation involves these steps:

Contact the study coordinator.
Provide blood samples from family members both with and without CM1.
Answer questions about family and medical history.
Complete a medical questionnaire.
Review of medical records and MRIs to confirm the diagnosis of CM1
Potentially ask other degree family members (parents, siblings, children) to participate in the study.

If your family meets these criteria and is willing to participate in the study, please contact the study coordinator.

CM1/S Study Coordinator
Heidi Cope, MS, CGC
E-mail: chg_chiari@dm.duke.edu
Phone: (919) 684-0655

New Board Members 2017

The ASAP Board of Directors has added new Board members in recent months.

Bridget Borys was elected in December 2016 while John Caemmerer was reelected in February 2017.

Bridget graduated from SUNY Fredonia in 2007 with her Bachelors in Social Work. She is currently employed by Ontario ARC as a Medicaid Service Coordinator, helping those with developmental disabilities. Bridget lives in Seneca Falls, NY with your husband Michael ‘Yogi’.

Yogi was diagnosed with Chiari and syringomyelia in 2001 when running wind sprints training at the police academy. Thankfully a doctor at the local emergency room knew about Chiari malformation and syringomyelia and ordered the MRI.

In 2007 Bridget and Yogi held their first fundraiser with a friend’s band to raise money for ASAP programs. Since that time she has been fundraising and spreading awareness for both Chiari malformation and syringomyelia. Bridget has helped organize several walks in the past few years. Most recently, with the assistance of her family, she created a Community Fun Day to spread awareness of Chiari malformation, syringomyelia, ASAP, our mission and vision.

Bridget enjoys helping others and tries to see the positive in everything she does. She looks forward to helping others on this amazing journey with ASAP.

John Caemmerer was born and raised in Long Island, N.Y. After getting married, he moved to New Jersey where he raised his family. John now resides in New York again and is self-employed in the construction industry.

John first became involved with the organization when a longtime friend invited him to a fundraising walk. Moved by the personal stories he heard that day, he made the offer to assist with future events. With a background in sales, he was an asset in promoting and developing events. After volunteering for a couple years, he joined the Board of Directors.

John is currently serving on several committees with a special interest in fundraising and raising awareness.
He has served as Chair for the Conference Committee for a number of years. It is John’s belief that while we search for a cure, the work that ASAP performs serves to improve the quality of life for persons affected by SM, CM, and related disorders. He believes that by his service he can help people empower themselves to live a life that is defined by their abilities and accomplishments in spite of their diagnoses.

2016-2017 Research Grants

The Board of Directors approved three new research grants at the October 2016 meeting. The projects have a combined expense of $97,000.

The Effect of Demographic and Socioeconomic Factors in the Diagnosis and Treatment of Chiari I Malformation will take place at Washington University with David Limbrick, MD, PhD as Principal Investigator.

Chiari malformation with or without syringomyelia (CM+/-SM) is a common and debilitating neurological condition. While surgical treatment remains the mainstay of management, little information exists regarding barriers to diagnosis, workup, and treatment for this disease. Insurance status and race are known to have an impact on access to care in a variety of different conditions. However, these factors have not been assessed in CM+/-SM. To determine these effects, we are proposing a study that seeks to determine the relationship between geographic and demographic factors on access to surgical treatment, clinical outcomes, and quality of life (QOL) for CM+/-SM. This will be achieved using a large multi-institutional database of over 500 subjects with CM+/-SM. By analyzing these effects, we hope to understand and ultimately reduce disparities in the diagnosis and treatment of CM+/-SM.

Quality Indicators for the Surgical Management of Chiari I Malformation is a collaborative effort between the Center for Health Policy at Stanford and Stanford Health Care. Principal Investigator is Jennifer Quon, Md.

The goal of this study is to establish “quality indicators” for the surgical management of Chiari I malformation. We will use an evidence-based approach to establish Chiari quality indicators to inform clinical and surgical decision-making. A systematic literature review of Chiari I related clinical outcomes was performed to identify articles in multiple domains defined a priori as integral to reporting outcomes in patients undergoing a Chiari I decompression. We propose to identify disease-specific instruments that we could implement in the ambulatory care setting and prospectively validate these metrics to ensure they accurately reflect the range of outcomes seen in this disease. We would then integrate these metrics into epic and track our outcomes and resource utilization on a regular basis. The success of this innovative project will be measured by the 1) seamless integration of quality metrics into our daily workflow; 2) improve patient care and outcomes; and 3) lead to a national collaborative multi-institutional effort focusing on quality outcome metrics for Chiari I malformation.

The third study which will take place at Duke and further the Genetic Study.

In “Classical” CMI the cerebellar tonsillar herniation is generally thought to be caused by a volume discrepancy between the posterior cranial fossa and the residing neural tissue (cerebellum, brainstem) arising from underdevelopment of the paraxial mesoderm /occipital somites. On the basis of this assumption, Urbizu et al (2013) recently carried out a case-control genetic association study using 404 Spanish CMI patients and 524 sex-matched controls to explore the role of common genetic variation with haplotype tagging SNPs (TagSNPs) in 58 functional candidate genes involved in paraxial mesoderm, occipital somite, sclerotome and placental angiogenesis development. Although no associations met adjustment for multiple comparisons within the whole patient sample, four SNPs in three genes (CDX1, FLT1 and ALDH1A2) remained significant (at a 10% False Discovery Rate correction) when analyses were restricted to 186 patients with an underdeveloped posterior cranial fossa as defined by measures obtained from magnetic resonance imaging (MRI). We set out to replicate these genetic susceptibility alleles in an independent family-based US Caucasian dataset of CMI, as well as to test additional variants located within those genes. The relationship between the genotypes of SNPs and cranial base morphological traits was also investigated using MRI measurements as defined previously in Markunas et al (2014). When evaluating association with several posterior fossa traits, nominal association with CMI was observed for seven SNPs. The most significant of these findings was for rs11689375 ( in the MSGN1 gene), which demonstrated the highest evidence for association within a subset of families characterized by a large posterior fossa (p=0.001). Nominal genotypic associations with affection status were also identified in two ALDH1A2 SNPs, three CDX1 SNPs, and one FLT1 SNP, when subsetting families based on PF measurements. Given the consistency in evidence for association across the two independent studies (Spanish and US) in the ALDH1A2, CDX1 and FLT1 genes, we propose a targeted deep sequencing study of these three genes to identify potentially causal variants. This approach is similar to how we previously identified mutations in the GDF6 and GDF3 genes in CMI families (Markunas et al, 2013).

Oklahoma City Walk and Roll for a Cure

Special thanks to Ann Humphreys who coordinated the walk that took place on September 23, 2016.

Molly’s 2nd Annual Walk and Roll for a Cure

Chiari Awareness fact #23!
Without my family and friends I would have never made it this far!
Your support means the world to me! <3 Thank you all!