Isidro Cortes-Ciriano1, Christopher D. Steele2, Katherine Piculell3, Alyaa Al-Ibraheemi4, Vanessa Eulo5, Marilyn M. Bui6, Aikaterini Chatzipli7, Brendan C. Dickson8,9, Dana C. Borcherding10, Andrew Feber11, Alon Galor12, Jesse Hart13, Kevin B. Jones14, Justin T. Jordan15, Raymond H. Kim16,17, Daniel Lindsay18, Colin Miller1, Yoshihiro Nishida19, Paula Z. Proszek11, Jonathan Serrano20, R. Taylor Sundby21, Jeffrey J. Szymanski22, Nicole J. Ullrich23, David Viskochil24, Xia Wang25, Matija Snuderl20, Peter J. Park7, Adrienne M. Flanagan2,18, Angela C. Hirbe10, Nischalan Pillay2,18, David T. Miller3; for the Genomics of MPNST (GeM) Consortium

Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. PMID: 36598417; PMCID: PMC9983734.

Miller, D.T.; Cortés-Ciriano, I.; Pillay, N.; Hirbe, A.C.; Snuderl, M.; Bui, M.M.; Piculell, K.; Al-Ibraheemi, A.; Dickson, B.C.; Hart, J.; Jones, K.; Jordan, J.T.; Kim, R.H.; Lindsay, D.; Nishida, Y.; Ullrich, N.J.; Wang, X.; Park, P.J.; Flanagan, A.M., on behalf of the Genomics of MPNST (GeM) Consortium;

Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. Genes 2020, 11, 387.

https://doi.org/10.3390/genes11040387

MPNST Patient-Derived Model Testing

The purpose of these RFAs is to produce actionable pre-clnical data about response to single agent and combination agents using patient-derived NF1-related MPNST models such as PDX and organoids, with the goal of informing human clinical trials for NF1-related MPNST. These awards will support a project similar to the National Cancer Institute’s NCI PDX-net.

Please see our Grants Program page for more information and important submission deadlines.

Panel urges new genetic test for neurodevelopmental disorders

Excerpt from online article:

Evolution of genetic testing

Until a decade ago, the state of the art in genetic testing was a technique called karyotyping, which involved examining chromosomes — the thread-like collections of DNA found in the nucleus of each human cell — under a microscope. Unfortunately, karyotyping was able to find the genetic causes of unexplained neurodevelopmental disorders only about three percent of the time.

In 2010, Miller helped convince the medical community to embrace a new technology called chromosomal microarray (CMA), which uses molecular probes to search a cell’s 23 pairs of chromosomes for extra or missing copies of genes. CMA was a major advance, able to find the genetic roots of neurodevelopmental disorders 15 to 20 percent of the time. It became a first-line test, covered by most insurance providers.

But over the last decade, exome sequencing has emerged as a promising alternative. “There still are going to be uses for chromosomal microarray,” says Miller, a senior co-author of the Genetics in Medicine paper. “We’re just pointing out that technology has advanced, and now there’s a better option that gives you more answers.”

The Boston Children's Hospital Multidisciplinary Neurofibromatosis Program, in collaboration with Massachusetts General Hospital, invites you to the 2019 Patient & Caregiver NF Symposium on March 30. Learn about the latest research and clinical trials, connect with other families and ask questions. The agenda will include:

 Updates on medications to help shrink tumors in NF

 How animal models help with drug discovery

 Preimplantation genetic testing & family planning

 Highlights from Neurofibromatosis Northeast & Children's Tumor Foundation

 Gene therapy initiatives in NF2

 Growth and puberty in NF1

 "Ask the Experts" session

Register at: https://2019nfsymposium.eventbrite.com

Parking and lunch are included with the registration fee. Please park in the Boston Children's Hospital Patient Family Parking Garage at 2 Blackfan Circle.

If the cost of registration is prohibitive please contact Caroline McGowan at caroline.mcgowan@childrens.harvard.edu. Financial assistance is available.

Dr. Ullrich is a member on our GeM Consortium Steering Committee and leads the Oncology and Pathology Working Group. Joining her is Kristine Poirier, Senior Director of Development for the Children's Tumor Foundation.

Register at NF-SYMPOSIUM.EVENTBRITE.COM

The SAC met on November 2, 2017 to select awardees for our MPNST pre-clinical grant program.
Awardees will be announced soon!

From left to right: Professor Eric Legius (MD, PhD), Drs. Trevor Pugh (PhD) , David Miller (MD, PhD), Bruce Korf (MD, PhD), Darren Hargrave (MB, Chb (Hons), MD, MRCP, FRCPCH), Nicole Ullrich (MD, PhD), AeRang Kim (MD, PhD)

The NF Research Initiative is a proud sponsor of the Children's Tumor Foundation's (CTF) Young Investigator Awards (YIA). Please click here for biographical information on this year's recipients!

Description of YIA from CTF website:

"CTF’s longest running program, the YIA provides two-year funding, commensurate with the National Institutes of Health (NIH), to young scientists early in their careers, bringing them into the NF field and helping to establish them as independent investigators. Initiated in 1985 by the Foundation, the YIA program was, until 2006, CTF’s sole ongoing grant mechanism. A number of YIAs have made significant research findings and notable publications through this program. In addition, the YIA program has been a 'seeding mechanism' for researchers and their mentors, who could showcase their Foundation-funded research to secure larger grants from the NIH and the Congressionally Directed Medical Research Program - Neurofibromatosis Research Program (CDMRP-NFRP). CTF’s seeding of the NF field with new talent has been hailed as a key reason for the rapid growth of NF research in recent years."

"The 2017 YIA program has a special emphasis on MPNST, with funding for at least one meritorious application reserved for applicants who focus on the goal of translating genomic information into medical treatments for MPNST. More details are provided in the application form."