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…
Read MoreRecommendations 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…
Read MoreThe 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.
Read MorePediatricians 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.
Read MoreYou 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…
Read MoreJansen-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
Read MoreFeatured in the American Journal of Human Genetics.
Read MoreWhat makes JdVS kids unique? Navigating the unique presentation and combination of underlying complexities is a challenge, as are the moments of unadulterated joy and happiness. Finding and then balancing the line between silliness and engaged learning was the most rewarding part. What strategies have been helpful in working with someone with JdVS? Use of…
Read MoreOther 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
Read MoreOther 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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