RASopathies

A class of developmental syndromes caused by mutations in the genes that encode protein components of the Ras/MAPK signaling pathway. These pathways include some of the following disorders: neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome and Noonan syndrome.

UCSF STAR Clinic

The UCSF STAR Center for people with autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) is directed by Dr. Young Shin Kim. Our goal at STAR is to lead the way to better understanding, treatment, and promotion of well-being for people with ASD and NDDs. Our services for individuals across the lifespan are conducted by teams of psychiatrists, psychologists, and speech and language therapists.

The UCSF STAR Center for people with autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) is directed by Dr. Young Shin Kim. Our goal at STAR is to lead the way to better understanding, treatment, and promotion of well-being for people with ASD and NDDs. Our services for individuals across the lifespan are conducted by teams of psychiatrists, psychologists, and speech and language therapists.

SNAP Neuro-Gastrointestinal Clinic

The SNAP Neuro Gastrointestinal Clinic is a coordinated effort between the divisions of Child Neurology and Pediatric Gastroenterology. This clinic specializes in the assessment of children on and off the autism spectrum with additional challenges with GI conditions such as diarrhea, constipation and cyclical vomiting. Evaluation at our clinic provides investigation into the underlying cause of your child’s neurodevelopmental and gastrointestinal difference as well as behavioral/educational guidance and basic pharmacologic management.

The SNAP Neuro Gastrointestinal Clinic is a coordinated effort between the divisions of Child Neurology and Pediatric Gastroenterology. The SNAP Neuro-GI Clinic is directed by Drs. Elysa Marco and Sue Rhee. Dr Marco is a child neurologist with training in genetics, cognition and functional imaging, and is active in clinical research in this field. She is joined by Dr. Jessica Litwin, also a cognitive and behavioral child neurologist with an expertise in sleep.

Pediatric Language Clinic

The UCSF Pediatric Language Clinic specializes in the evaluation of children with language difficulties at different stages of development, including young children with speech and language delays and apraxia of speech, and older children who struggle with reading, writing, speaking, and comprehension. We are closely affiliated with the UCSF Dyslexia Center, and we are the primary referral clinic for children suspected to have dyslexia and other language-based learning disabilities.

The UCSF Pediatric Language Clinic specializes in the evaluation of children with language difficulties at different stages of development, including young children with speech and language delays and apraxia of speech, and older children who struggle with reading, writing, speaking and comprehension. We are closely affiliated with the UCSF Dyslexia Center, and we are the primary referral clinic for children suspected to have dyslexia and other language-based learning disabilities.

Developmental Medicine Clinic

The Developmental Medicine Clinic provides a comprehensive approach to care with a multidisciplinary team. Specific services include developmental evaluation, behavior management, medication management, and parent education to address a variety of developmental and behavioral needs facing children, adolescents, and their families. Drs. Tom Boyce, Neal Rojas, and Susanne Martin Herz bring their expertise in Developmental-Behavioral Pediatrics to this clinic. A growing group of psychologists, lead by Neuropsychologist Shannon Lundy, PhD, also guide assessments and therapeutic interventions.

The Developmental Medicine Clinic provides a comprehensive approach to care with a multidisciplinary team. Specific services include developmental evaluation, behavior management, medication management, and parent education to address a variety of developmental and behavioral needs facing children, adolescents, and their families. Drs. Tom Boyce, Neal Rojas, and Susanne Martin Herz bring their expertise in Developmental-Behavioral Pediatrics to this clinic. A growing group of psychologists, lead by Neuropsychologist Shannon Lundy, PhD, also guide assessments and therapeutic interventions.

Published Results

Read the published results from the observational studies and treatment trials completed at the UCSF Pediatric Brain Center’s Sensory Neurodevelopment and Autism Program.

The publications listed on this page are a selection of the articles published by the UCSF Pediatric Brain Center’s Sensory Neurodevelopment and Autism Program. If you wish to look for more, you can search PubMED, which is maintained by the National Library of Medicine.

Agenesis of the Corpus Callosum

ASD Biomarker Study

This research study is aimed at better understanding the biological mechanisms underlying autism spectrum disorders. A first step towards this process would be development of an easily and reliably measurable biomarker, which requires an understanding of the common elements underlying ASD biology. In the proposed research, we aim to make rapid progress toward identifying a blood biomarker for autism spectrum disorders.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: NIH and private foundations and grants
  • Recruiting?: Yes
  • Official study title: Biomarker Discovery in Autism Spectrum Disorder (ASD)
  • Conditions studied: Autism spectrum disorders that have been clinically diagnosed

Multi-disciplinary Assessment Center (MDAC) at San Francisco General Hospital (SFGH)

The UCSF Multi-Disciplinary Assessment Center (MDAC) at San Francisco General Hospital provides family-centered assessment services, diagnosis, service linkage, short-term intervention and case management to children and families needing neurological, psychological and medical assessment for suspected or actual developmental delay. MDAC is supported by First5 San Francisco.

The UCSF Multi-Disciplinary Assessment Center (MDAC) at San Francisco General Hospital provides family-centered assessment services, diagnosis, service linkage, short-term intervention and case management to children and families needing neurological, psychological and medical assessment for suspected or actual developmental delay. MDAC is supported by First5 San Francisco.

SNAP Contact Form

The UCSF Pediatric Brain Center’s Sensory Neurodevelopment and Autism Program is committed to conducting new and relevant research. We frequently begin new studies that you or your child might be eligible for. This SNAP Contact Form allows us to keep you informed of new studies through email, phone and periodic newsletters.

The UCSF Pediatric Brain Center’s Sensory Neurodevelopment and Autism Program is committed to conducting new and relevant research. We frequently begin new studies that you or your child might be eligible for. This SNAP Contact Form allows us to keep you informed of new studies through email, phone and periodic newsletters. You may also contact Annie Brandes-Aitken at Anne.Brandes-Aitken@ucsf.edu for more information.

Skin Cell to Stem Cell RasCal Study

The study will be looking at the effects of subject genetic changes on different types of cells that we can study in the laboratory, all from a small skin sample. We believe that this study will expand our knowledge about RASopathies and hope this knowledge could be used to develop new and better treatments in the future.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Skin cell to stem cell RasCal study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)
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