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Epigenetics and Chromatin Clinic

Epigenetics may seem like a big word. But when you break it down, it means “outside” the genome or our DNA, the chemical code of life found in every cell in our body. While we usually think about changes that occur within the spelling of our DNA, epigenetic changes occur “to” our DNA. These changes drive the way our DNA is read. If there are mistakes in our epigenetics, this can lead to medical conditions.

Experts at the Epigenetics and Chromatin Clinic help diagnose and develop treatment plans for people with epigenetic disorders or conditions. Our experts have developed expertise in the field of epigenetics after training in some of world’s best-known laboratories for epigenetics research. Our providers have seen more patients with Kabuki syndrome than any other clinic in the world. Our clinic also recently described a new condition, caused by the gene CHD1, which is called Pilarowski-Bjornsson syndrome after our own experts.

chromosomes

Services our team provides include:

  • Developmental assessments
  • Recommendations on medical and behavioral interventions
  • Recommendations for schooling, including individualized education program (IEP) recommendations
  • Options for clinical trials that test the latest experimental therapies for epigenetics syndromes

Conditions treated in our clinic include:

  • Alpha thal and MR (ATRX)
  • Angelman syndrome (UBE3A)
  • Autosomal Dominant MR (MBD5)
  • Beckwith-Wiedemann syndrome (IGF2)
  • Borjeson-Forssman-Lehmann syndrome (PHF6)
  • Brachydactyly MR syndrome (HDAC4)
  • CHARGE syndrome (CHD7)
  • Coffin-Lowry syndrome (RSK2)
  • Coffin-Siris syndrome (ARID1B)
  • ICF syndrome 1 (DNMT3B)
  • Kabuki syndrome (MLL2, KDM6A)
  • Kleefstra syndrome (EHMT1)
  • Opitz-Kaveggia syndrome (MED12)
  • Pilarowski-Bjornsson syndrome (CHD1)
  • Prader-Willi syndrome (SNRPN, NDN)
  • Rett syndrome (MECP2)
  • Rubinstein-Taybi syndrome (CBP, EP300)
  • Russell-silver syndrome (IGF2)
  • Schinzel-Giedion (SETBP1)
  • Sotos/Weaver syndrome (NSD1)
  • Syndromic micro-ophthalmia (BCOR)
  • Transient Neonatal Diabetes (ZFP57/PLAGL1)
  • Turner type, XLMR (HUWE1)
  • Weaver syndrome 2 (EZH2)
  • Williams syndrome (WINAC) 
  • XLMR Claes-Jensen type (KDM5C)
  • XLMR93 (BRWD3)
  • X lined mental retardation (PHF8)