Epigenetics and Chromatin Clinic

The Epigenetics and Chromatin Clinic was the first of its kind in the U.S. Our experts have been caring for patients with epigenetic conditions since 2012. Together, our team of providers have over 50 years of experience in epigenetics, having trained in some of the world’s best-known epigenetics research laboratories, and now they direct their own research laboratories and the Epigenetics and Chromatin Clinic.

Learn more about:

Our Clinical Mission

  • To diagnose, provide optimal care for, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders.

  • To learn from our patients some fundamental truths about epigenetics with the hope that this additional knowledge will lead to future therapeutic development for our patients.

  • To educate health care providers and patients about epigenetics and disorders of the epigenetic machinery.

Our Clinical Expertise

Who should be evaluated in the Epigenetics and Chromatin Clinic?

  • Individuals known to have a Mendelian disorder of the epigenetic machinery (MDEM) or an imprinting disorder 

  • Individuals suspected of having an MDEM or imprinting disorder

  • Individuals with intellectual disability or global developmental delay and growth differences

Services We Provide

  • Full clinical genetics evaluations
  • Genetic counseling
  • Comprehensive or targeted genetic testing
  • Brief developmental assessments 
  • Referrals for more extensive developmental and cognitive 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
  • Research opportunities

Conditions We Treat

Gene Condition
KMT2D Kabuki syndrome 1
KDM6A Kabuki syndrome 2
KMT2A Wiedemann-Steiner syndrome
TET3 Beck-Fahrner syndrome
NSD1 Sotos syndrome
EZH2 Weaver syndrome
EED Cohen-Gibson syndrome
DNMT3A Tatton-Brown-Rahman syndrome; Heyn-Sproul-Jackson syndrome
SETD2 Luscan-Lumish syndrome
EHMT1 Kleefstra syndrome 1
KMT2C Kleefstra syndrome 2
CREBBP Rubinstein-Taybi syndrome 1
EP300 Rubinstein-Taybi syndrome 2
KAT6A Arboleda-Tham syndrome
KAT6B Say Barber Biessecker Young Simpson syndrome (SBBYSS); Genitopatellar syndrome
CHD1 Pilarowski-Bjornsson syndrome
CHD2 Developmental and epileptic encephalopathy 94
CHD3 Snijders Blok-Campeau syndrome
CHD4 Sifrim-Hitz-Weiss syndrome
CHD5 Parenti-Mignot neurodevelopmental syndrome
CHD7 CHARGE/hypogonadotropic hypogonadism
CHD8 Intellectual developmental disorder with autism and macrocephaly
MBD5 Intellectual developmental disorder, autosomal dominant 1
MECP2 Rett syndrome and related disorders
PHF6 Borjeson-Forssman-Lehmann syndrome
SMARCA4 Coffin-Siris syndrome 4
SMARCA2 Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome
DPF2 Coffin Siris syndrome 7
ATRX Alpha-thalassemia/mental retardation syndrome; Intellectual disability-hypotonic facies syndrome, X-linked
SRCAP Floating Harbor syndrome; developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
SETD5 Intellectual developmental disorder, autosomal dominant 23
SETD1A Epilepsy, early onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies
SETD1B Intellectual developmental disorder with seizures and language delay
RAI1 Smith Magenis syndrome
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features (CPFR)
KDM6B Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
KDM5C Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
KDM5B Intellectual developmental disorder, autosomal recessive 65
PHF8 Intellectual developmental disorder, X-linked syndromic, Siderius type
DNMT1 Autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCADN); hereditary sensory neuropathy 1E (HSN1E)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome 1
NSD2 Rauch-Steindl syndrome (formerly Wolf-Hirschhorn syndrome)
HDAC4 Neurodevelopmental disorder with central hypotonia and dysmorphic facies (formerly brachydactyly mental retardation syndrome)
HDAC6 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
HDAC8 Cornelia De Lange syndrome, type 5
ASH1L Intellectual developmental disorder, autosomal dominant 52
ASXL1 Bohring-Opitz syndrome
ASXL2 Shashi-Pena syndrome
ASXL3 Bainbridge-Ropers syndrome
BRWD3 Intellectual developmental disorder, X-linked 93
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)
KMT2B Childhood-onset dystonia 28; Intellectual developmental disorder, autosomal dominant 68
KMT2E O’Donnell-Luria-Rodan syndrome
KMT5B Intellectual developmental disorder, autosomal dominant 51
KDM3B Diets-Jongmans syndrome
KDM4B Intellectual developmental disorder, autosomal dominant 65
KAT5 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
KAT8 Li-Ghorgani-Weisz-Hubshman syndrome
PHIP Chung-Jansen syndrome
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye or heart
PHF21A Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
TCF20 Developmental delay with variable intellectual impairment and behavioral abnormalities
UBR7 Li-Campeau syndrome
TAF1 Intellectual developmental disorder, X-linked syndromic 33
ZMYND11 Intellectual developmental disorder, autosomal dominant 30
ALG13 Developmental and epileptic encephalopathy 36
ORC1 Meier-Gorlin syndrome 1
MSL3 Basilicata-Akhtar syndrome
LBR Pelger Huet anomaly (PHA) PHA with muskuloskeletal findings Greenberg skeletal dysplasia

Additional Mendelian Disorders of the Epigenetic Machinery (MDEMs)

Gene SMN1 Condition Spinal muscular atrophy 1-4 Recommendation *Neuromuscular evaluation preferred
MORC2 Charcot-Marie-Tooth disease 2Z *Primary neurology evaluation preferred
PRDM12 Hereditary sensory and autonomic neuropathy (HSAN) 8 *Primary neurology evaluation preferred
PRDM16 Dilated cardiomyopathy 1LL; left ventricular non-compaction 8 *Cardiology evaluation preferred
PRDM6 Patent ductus arteriosus 3 *Cardiology evaluation preferred
PRDM5 Brittle cornea syndrome 2 *Ophthalmology evaluation preferred
TDRD7 Cataract 36 *Ophthalmology evaluation preferred
MSH6 Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome *Oncology evaluation preferred
CBX2 Sex reversal *Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred
HR Alopecia universalis; Atrichia with papular lesions; hypotrichosis type 4 *Dermatology evaluation preferred
TET2 Immunodeficiency 75; myelodysplastic syndrome, somatic *Immunology or hematology/oncology     evaluation preferred
AIRE Autoimmune polyendocrinopathy syndrome 1 *Immunology evaluation preferred
RAG2 Omenn syndrome and severe combined immunodeficiency (SCID) *Immunology evaluation preferred
SP110 Hepatic venoocclusive disease and immune deficiency *Immunology evaluation preferred

Note: The above is a complete list of the MDEMs. We care for individuals with many of the disorders shown in black. However, for the disorders that are grayed out, our clinic may not be the most appropriate place to obtain medical care; for those, more appropriate specialty clinics are listed.

Schedule An Appointment

To schedule an appointment, please call 410-955-3071 (new patients) or 443-287-9494 (returning patients) and request an appointment in the Epigenetics and Chromatin Clinic with Dr. Fahrner. An appointment with Dr. Fahrner will allow you to be evaluated by Dr. Fahrner, Dr. Harris and Ms. Britton.