Dr. Lachman’s iPS Cell Research at Einstein Medical

By Kara Kilroy | February 24, 2021

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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Guidance from a Teacher

By Kara Kilroy | February 24, 2021

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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BearGenes Video

By Kara Kilroy | February 19, 2021

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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What Families Need to Know About Genetic Testing

By Kara Kilroy | February 11, 2021

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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Understanding Rare Chromosome and Gene Disorders

By Kara Kilroy | February 10, 2021

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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JdVS/PPM1D Publications

By Kara Kilroy | February 10, 2021

  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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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

By Kara Kilroy | February 10, 2021

Featured in the American Journal of Human Genetics.

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Guidance from a Physical Therapist

By Kara Kilroy | February 10, 2021

What 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…

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Common Physical Attributes Associated with JdVS

By Kara Kilroy | February 10, 2021

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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Common Medical Issues Associated with JdVS

By Kara Kilroy | February 10, 2021

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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