Dr. Herbert Lachman, a member of the JdVS Medical Advisory Board is a co-first author of a genetic study in which candidate genes are identified using genome sequencing for a neuroinflammatory condition called Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). This condition is characterized by the abrupt onset of severe neuropsychiatric symptoms including obsessive-compulsive disorder, tics, anxiety,…
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Like many Rare Diseases, there is insufficient medical information about JdVS. Some of the JdVS Foundation’s Medical Advisory Board members are a part of the Genida Collaborative Project and families participating are improving our knowledge of various conditions based on their day-to-day experiences. This collaborative research program offers new perspectives and the higher number of…
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Dr. Herbert Lachman, a scientist at the Albert Einstein College of Medicine, and a JdVS Medical Advisory Board Member is one of the first researchers to use iPS cells to study neurodevelopmental disorders. He is also one of the first to use a gene editing tool called CRISPR to introduce IDD and autism mutations into…
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Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime experience. A good team of specialists and educators will be essential when moving forward with academic goals for the student. In the classroom is important to remember that you will see a full range of emotions from a student with…
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The BearGenes video series explains what to expect at your genetics visit and covers newborn screening, genetic testing and a variety of other topics related to genetics.
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Pediatricians may recommend a genetics consult or genetic testing for a child. This article from the Journal of the American Medical Association reviews what families need to know about genetic tests.
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You might despair at the lack of information about your own or your child’s disorder or that the disorder hasn’t even got a ‘proper’ name. Whatever your feelings and emotions, we know how much it can help to talk to people who understand what you are going through and who even know what you are talking…
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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
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Other names: PPM1D, IDDGIP Small hands and feet Hypoplastic nails Short stature Broad forehead Low-set posteriorly rotated ears Upturned nose Broad mouth with thin upper lip Expressive eyes and high arching eyebrows
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Other names: PPM1D, IDDGIP Excess amniotic fluid in utero Hernias Hypotonia Laryngomalacia Feeding and gastrointestinal issues Gastroesophageal reflux Constipation Periods of unexplained vomiting (sometimes with fever) Visual issues Myopia (nearsightedness) Hypermetropia (farsightedness) Strabismus (crossed eyes) High pain-threshold Sound sensitivity Original Publication on JdVS/PPM1D Variant
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