RASopathies
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Learn About RASopathies

What is the definition of RASopathies?
RASopathies are a group of rare syndromes causes by mutations in the genes that make proteins for the Ras/MAPK cell signaling pathway. This pathway controls cell functions such as cell growth, cell maturation, and cell death. There are several types of RASopathy syndromes, including cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.
What are the symptoms of RASopathies?
Symptoms of RASopathies depend on the type. Symptoms of RASopathies include facial, eye, skin, muscle, bone, nervous system, heart, and gastrointestinal abnormalities; learning disabilities; and developmental delays. Individuals with RASopathies may also have an increased risk of cancer.
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What are the different types of RASopathies?
What are the current treatments for RASopathies?
Treatment for RASopathies includes selumetinib and RAS targeted therapies.
Who are the top RASopathies Local Doctors?
Elite in RASopathies
Pediatric Cardiology
Elite in RASopathies
Pediatric Cardiology

Mount Sinai

1 Gustave L Levy Pl, 
New York, NY 
Languages Spoken:
English

Bruce Gelb is a Pediatric Cardiologist practicing medicine in New York, New York. Dr. Gelb is rated as an Elite provider by MediFind in the treatment of RASopathies. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses RASopathies, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, Noonan Syndrome, and Heart Transplant.

Elite in RASopathies
Medical Genetics
Elite in RASopathies
Medical Genetics

Nemours DuPont Hospital For Children

1600 Rockland Road, Department Of General Pediatrics, 
Wilmington, DE 
Languages Spoken:
English

Karen Gripp is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Gripp is rated as an Elite provider by MediFind in the treatment of RASopathies. She is also highly rated in 122 other conditions, according to our data. Her clinical expertise encompasses Costello Syndrome, RASopathies, Noonan Syndrome, and Gingival Fibromatosis with Hypertrichosis.

 
 
 
 
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Elite in RASopathies
Elite in RASopathies

Boston Childrens Health Physicians LLP

755 N Broadway Ste 400, 
Sleepy Hollow, NY 
Languages Spoken:
English

Alicia Romano is a Pediatrics provider practicing medicine in Sleepy Hollow, New York. Dr. Romano is rated as an Elite provider by MediFind in the treatment of RASopathies. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Noonan Syndrome, RASopathies, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS).

What are the latest RASopathies Clinical Trials?
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression

Summary: The present study will establish a collection of biological samples from Noonan patients to be used for research purposes only, with due respect for confidentiality.

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National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype

Summary: RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.